Pediatric Endocrine

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Questions and Answers

Why is it crucial to replace thyroid hormone in children with hypothyroidism?

  • To prevent the development of Hashimoto's thyroiditis.
  • To ensure they achieve normal growth in height and cognitive function. (correct)
  • To decrease TSH level.
  • To avoid prolonged bilirubin elevation in older children.

A newborn screening reveals an elevated TSH level. What is the most appropriate next step in evaluating the newborn for hypothyroidism?

  • Immediately start the baby on thyroxine replacement therapy.
  • Consult with a pediatric endocrinologist for a thyroidectomy.
  • Perform a T3 uptake test to determine the severity of hypothyroidism.
  • Repeat the TSH test and add a free T4 test. (correct)

Which of the following is the most common cause of juvenile acquired hypothyroidism?

  • Iodine deficiency.
  • Pituitary deficiency of growth hormone.
  • Congenital absence of the thyroid gland.
  • Hashimoto’s thyroiditis. (correct)

An 8-year-old child presents with weakness, cold intolerance, constipation, and poor growth. Initial labs reveal an elevated TSH and decreased free T4. Which of the following conditions is most likely?

<p>Hypothyroidism (D)</p> Signup and view all the answers

Which of the following is a potential cause of congenital hypothyroidism that directly affects the fetus during the first trimester?

<p>Absence or underdevelopment of the thyroid gland. (C)</p> Signup and view all the answers

A child presents with decreased T3, increased serum cholesterol, and hyponatremia. These findings are MOST indicative of which condition?

<p>Hypothyroidism (C)</p> Signup and view all the answers

What is the recommended starting dosage of L-thyroxine for a 5-year-old child diagnosed with hypothyroidism?

<p>3-5 mcg/kg/day (D)</p> Signup and view all the answers

Which of the following is classified as a primary growth disorder?

<p>Skeletal dysplasia (A)</p> Signup and view all the answers

Which diagnostic test is MOST appropriate to rule out Turner syndrome in a female child presenting with short stature?

<p>Karyotype (C)</p> Signup and view all the answers

A child's height is below the 3rd percentile. Which of the following additional findings would be MOST concerning for a growth disorder?

<p>Failure to grow more than 4 cm per year (C)</p> Signup and view all the answers

A child presents with a dark, velvety line around their neck (acanthosis nigricans). This finding is MOST indicative of which underlying condition?

<p>Hyperglycemia or polycystic ovary syndrome (PCOS). (B)</p> Signup and view all the answers

Which characteristic is associated with proportionate short stature?

<p>Extremities, head and trunk grow proportionally (A)</p> Signup and view all the answers

During a physical exam for growth assessment, which measurement technique is MOST appropriate for a child younger than 2 years old?

<p>Supine length measured from head to heel. (C)</p> Signup and view all the answers

When evaluating a child for potential endocrine dysfunction, which historical factor is MOST important to consider regarding maternal health during pregnancy?

<p>Maternal exposure to radioiodine, goitrogens, or iodine medication. (B)</p> Signup and view all the answers

A child with short stature is suspected of having a secondary growth disorder. Which lab test would be MOST useful in evaluating a potential underlying cause?

<p>CBC and ESR (C)</p> Signup and view all the answers

A child is diagnosed with Rickets, a form of disproportionate short stature. What is the underlying cause of Rickets?

<p>Vitamin D deficiency (B)</p> Signup and view all the answers

A child's bone age is typically assessed using an X-ray of which body part?

<p>The left wrist. (B)</p> Signup and view all the answers

Which of the following is the MOST direct role of thyroid cells in the production of thyroid hormones?

<p>Absorbing iodine from the diet. (D)</p> Signup and view all the answers

A child exhibiting recurrent vomiting and unexplained lethargy may warrant investigation for which of the following?

<p>Signs of endocrine or metabolic dysfunction. (C)</p> Signup and view all the answers

After performing a physical exam on a pediatric patient, you note the presence of striae. This clinical finding MOST likely indicates:

<p>Extended periods of rapid growth or weight gain. (B)</p> Signup and view all the answers

A newborn is diagnosed with congenital hypothyroidism. The MOST significant risk associated with untreated congenital hypothyroidism is:

<p>Impaired growth and neurodevelopmental deficits. (C)</p> Signup and view all the answers

A child presents with height below the 3rd percentile, normal birth length and weight, and delayed puberty. What is the MOST likely condition, assuming no chronic illness is present?

<p>Constitutional Growth Delay (CGD) (B)</p> Signup and view all the answers

What key historical finding differentiates Constitutional Growth Delay (CGD) from other growth disorders?

<p>Family history of short stature and delayed puberty (B)</p> Signup and view all the answers

Why is an endocrinologist referral important for a child suspected of having Constitutional Growth Delay (CGD)?

<p>To rule out Growth Hormone Deficiency (GHD) and consider hormone replacement if needed. (A)</p> Signup and view all the answers

What is the definition of true precocious puberty?

<p>Onset of multiple pubertal features earlier than the normal age range. (D)</p> Signup and view all the answers

When should delayed puberty be considered in boys and girls, respectively?

<p>Boys &gt; 14 years, Girls &gt; 13 years with no pubertal features. (D)</p> Signup and view all the answers

A 13-year-old girl presents with breast budding. According to the guidelines presented, within what timeframe should she typically progress to menarche?

<p>Within 5 years (A)</p> Signup and view all the answers

Which of the following is a characteristic feature of Type 1 Diabetes Mellitus?

<p>Destruction of pancreatic islet cells (B)</p> Signup and view all the answers

What are the classic signs and symptoms of Type 1 Diabetes Mellitus?

<p>Polyuria, Polydipsia, Polyphagia (D)</p> Signup and view all the answers

Which of the following signs and symptoms is LEAST likely to be associated with a new diagnosis of Type 1 Diabetes Mellitus in a youth?

<p>Gradual onset of fatigue and blurred vision (B)</p> Signup and view all the answers

A 12-year-old is newly diagnosed with Type 1 Diabetes. What is the PRIMARY initial goal for their Hemoglobin A1c (HgbA1c) level, according to current guidelines?

<p>Less than 7.5% (D)</p> Signup and view all the answers

Which of the following laboratory findings is MOST indicative of Type 1 Diabetes Mellitus?

<p>Presence of islet autoantibodies (D)</p> Signup and view all the answers

A 15-year-old obese patient is diagnosed with Type 2 Diabetes. Besides lifestyle modifications, what is the recommended first-line pharmacotherapy?

<p>Metformin (D)</p> Signup and view all the answers

Which of the following characteristics is MORE commonly associated with Type 2 Diabetes compared to Type 1 Diabetes in youth?

<p>Strong family history of diabetes (A)</p> Signup and view all the answers

A child with Type 1 Diabetes experiences a hypoglycemic episode. Besides administering a fast-acting carbohydrate, what is an important next step?

<p>Monitoring blood glucose levels to ensure they return to target range (A)</p> Signup and view all the answers

Which of the following complications is MOST closely associated with Type 2 Diabetes in adolescent females?

<p>Polycystic Ovary Syndrome (PCOS) (D)</p> Signup and view all the answers

A 10-year-old child is suspected of having diabetes. Which fasting blood sugar level would require a repeat test on another day to confirm a diagnosis of diabetes?

<p>$120 \text{ mg/dL}$ (D)</p> Signup and view all the answers

What frequency of Hemoglobin A1c measurement is generally recommended for children with stable type 2 diabetes who are meeting their glycemic goals?

<p>Every 6 months (D)</p> Signup and view all the answers

Which of the following lipid panel results would be considered within the target range for a child with type 2 diabetes?

<p>LDL Cholesterol: $90 \text{ mg/dL}$ (A)</p> Signup and view all the answers

A 6-year-old child with hypothyroidism is prescribed L-thyroxine. Based on the provided guidelines, what would be the MOST appropriate dosage range?

<p>3-5 mcg/kg/day (C)</p> Signup and view all the answers

Which of the following lab results would be LEAST likely in a child with untreated hypothyroidism?

<p>Hyperglycemia (B)</p> Signup and view all the answers

A child's growth chart shows a pattern of slow growth for the first few years, followed by a low-normal growth velocity. Bone age is consistent with height age. Which condition is MOST likely?

<p>Constitutional growth delay (A)</p> Signup and view all the answers

An infant is suspected of having congenital hypothyroidism. Which combination of signs and symptoms would be MOST indicative of this condition?

<p>Lethargy, poor feeding, and prolonged bilirubin elevation. (C)</p> Signup and view all the answers

When evaluating a child with short stature, which of the following clinical findings would be MOST suggestive of Turner syndrome?

<p>Short neck (D)</p> Signup and view all the answers

A 10-year-old patient presents with fatigue, constipation, and declining academic performance. Lab results show an elevated TSH. What is the MOST likely underlying cause, assuming no other significant medical history?

<p>Hashimoto’s thyroiditis causing hypothyroidism (D)</p> Signup and view all the answers

A child presents with disproportionate short stature. Which of the following underlying conditions is MOST likely if the child also exhibits bow legs, weakness, and bone pain?

<p>Rickets (D)</p> Signup and view all the answers

A newborn screening indicates an elevated TSH level. After confirming this result with a repeat test and a low free T4, what is the MOST important immediate intervention?

<p>Initiating thyroid hormone replacement therapy (D)</p> Signup and view all the answers

A child's height is below the 3rd percentile. What annual growth rate would warrant further investigation for a growth disorder?

<p>3 cm per year (A)</p> Signup and view all the answers

A child is diagnosed with hypothyroidism due to inherent dysfunction in the assimilation of iodine. At which point did this dysfunction MOST likely begin to affect the child's thyroid development?

<p>In utero, potentially affecting the fetus in the first trimester (D)</p> Signup and view all the answers

A teenage patient exhibits signs of hypothyroidism and reports consuming a diet deficient in iodine over several years. How does iodine deficiency impact the thyroid's ability to synthesize hormones?

<p>It limits T4 and T3 synthesis, leading to primary hypothyroidism. (C)</p> Signup and view all the answers

Which of the following features is MOST characteristic of proportionate short stature?

<p>Extremities, head, and trunk growing proportionally (D)</p> Signup and view all the answers

Which of the following would be LEAST helpful in differentiating between primary and secondary growth disorders?

<p>Family history (C)</p> Signup and view all the answers

When assessing a child for growth abnormalities, why is it important to compare sitting and standing heights?

<p>To assess for proportionate vs. disproportionate growth patterns. (C)</p> Signup and view all the answers

During the physical exam of a child being evaluated for a potential endocrine disorder, what does the presence of acanthosis nigricans MOST likely indicate?

<p>Hyperglycemia or Polycystic Ovary Syndrome (PCOS). (A)</p> Signup and view all the answers

When evaluating a child for a potential endocrine disorder, which aspect of the child's history is MOST important to gather?

<p>Maternal exposure to goitrogens during pregnancy. (B)</p> Signup and view all the answers

Why is bone age assessment, typically via X-ray of the left wrist, important in the evaluation of endocrine disorders affecting growth?

<p>To determine the child's remaining growth potential. (B)</p> Signup and view all the answers

A child presents with recurrent vomiting and unexplained lethargy. Which of the following endocrine or metabolic conditions should be HIGHLY considered?

<p>Adrenal Insufficiency. (C)</p> Signup and view all the answers

What is the underlying mechanism by which thyroid cells produce T3 and T4 hormones?

<p>Absorption of iodine and combination with tyrosine. (B)</p> Signup and view all the answers

Following a physical exam, you observe striae on an adolescent patient. What condition does this clinical finding MOST likely suggest?

<p>Extended periods of growth, such as in obesity. (B)</p> Signup and view all the answers

When evaluating a child with growth concerns, which diagnostic procedure would be MOST appropriate for assessing thyroid gland symmetry and size?

<p>Neck palpation. (D)</p> Signup and view all the answers

A 10-year-old boy is significantly shorter than his peers. His parents report a family history of late bloomers. Physical exam is normal. Which of the following findings would MOST strongly suggest Constitutional Growth Delay (CGD)?

<p>Normal growth velocity with delayed bone age (D)</p> Signup and view all the answers

A child with Constitutional Growth Delay (CGD) is likely to exhibit which of the following growth patterns?

<p>Slower linear growth between 1 and 3 years of age, followed by a height consistently below the 3rd percentile. (C)</p> Signup and view all the answers

What is the PRIMARY reason an endocrinologist referral is recommended for a child suspected of Constitutional Growth Delay (CGD)?

<p>To rule out other causes of short stature, such as growth hormone deficiency. (C)</p> Signup and view all the answers

A 9-year-old girl presents with breast budding and pubic hair development. This is considered precocious puberty. Which statement accurately describes precocious puberty?

<p>The onset of <em>multiple</em> pubertal features earlier than the normal age range. (D)</p> Signup and view all the answers

At what age should delayed puberty be considered in boys and girls, respectively, if they show no clinical features of puberty?

<p>Boys &gt; 14 years old, Girls &gt; 13 years old (D)</p> Signup and view all the answers

A 16-year-old boy shows no signs of testicular enlargement or pubic hair development. What is the MOST appropriate next step?

<p>Referral to an endocrinologist for evaluation of hypogonadism. (B)</p> Signup and view all the answers

A 7-year-old presents with polyuria, polydipsia, and weight loss. Which underlying physiological process is the MOST likely cause of these symptoms in Type 1 Diabetes Mellitus?

<p>Autoimmune destruction of pancreatic islet cells leading to absolute insulin deficiency. (A)</p> Signup and view all the answers

Which genetic factor is STRONGLY associated with an increased risk of developing Type 1 Diabetes Mellitus?

<p>Human Leukocyte Antigens HLA-DR3 or HLA-DR4 (B)</p> Signup and view all the answers

A 14-year-old patient with Type 2 Diabetes presents with a Hemoglobin A1c of 8.2% despite consistent lifestyle modifications for the past 4 months. According to the guidelines, what is the MOST appropriate next step in management?

<p>Initiate metformin therapy, while continuing lifestyle modifications. (A)</p> Signup and view all the answers

What distinguishes Type 1 Diabetes Mellitus from Type 2 Diabetes Mellitus in youth regarding insulin sensitivity?

<p>Insulin sensitivity is normal in Type 1 Diabetes but decreased in Type 2 Diabetes. (B)</p> Signup and view all the answers

A 9-year-old presents with polyuria, polydipsia, and significant weight loss despite increased appetite. A random blood sugar is 240 mg/dL. What is the MOST appropriate next step?

<p>Repeat the random blood sugar test on another day and check urine for glucose and ketones. (B)</p> Signup and view all the answers

A 16-year-old female with Type 2 Diabetes has a lipid panel showing LDL 110 mg/dL, HDL 35 mg/dL, and triglycerides 160 mg/dL. Which of the following is the MOST appropriate intervention based on these results?

<p>Recommend increased physical activity and dietary changes to improve HDL and triglycerides. (A)</p> Signup and view all the answers

In a youth with Type 1 Diabetes, which of the following BEST describes the relationship between carbohydrate intake and insulin dosage?

<p>Insulin dosage is adjusted based on carbohydrate counting to match insulin needs with food intake. (B)</p> Signup and view all the answers

Why is annual urine testing for microalbumin recommended for children and adolescents with diabetes?

<p>To detect early signs of kidney dysfunction and nephropathy. (B)</p> Signup and view all the answers

What percentage of youth with Type 2 Diabetes have a first-degree relative with the disease?

<p>Approximately 80% (B)</p> Signup and view all the answers

What is the recommended frequency of Hemoglobin A1c measurement for children with stable Type 2 Diabetes who are meeting their glycemic goals?

<p>Every 6 months (A)</p> Signup and view all the answers

A 13-year-old male with Type 1 Diabetes is consistently missing his evening insulin dose. What is the MOST appropriate initial intervention?

<p>Refer the patient to a diabetes educator to reinforce the importance of adherence and address barriers. (C)</p> Signup and view all the answers

What distinguishes the typical onset of Type 1 Diabetes from Type 2 Diabetes in adolescents?

<p>Type 1 Diabetes typically has an acute and severe onset, while Type 2 Diabetes can be subtle to severe. (B)</p> Signup and view all the answers

A 6-month-old infant presents with lethargy, poor feeding, and prolonged jaundice. Which of the following sets of lab results would be most consistent with congenital hypothyroidism?

<p>Elevated TSH, decreased free T4 (C)</p> Signup and view all the answers

An 11-year-old child presents with fatigue, constipation, and cold intolerance. Initial labs show an elevated TSH. What is the MOST likely cause of this child's hypothyroidism?

<p>Hashimoto's thyroiditis (A)</p> Signup and view all the answers

Which of the following mechanisms is MOST likely to cause congenital hypothyroidism?

<p>Iodine transport defects into thyroid follicular cells (A)</p> Signup and view all the answers

Why is prompt diagnosis and treatment of congenital hypothyroidism crucial in neonates?

<p>To ensure normal physical growth and cognitive development (B)</p> Signup and view all the answers

A newborn screening reveals an elevated TSH. After the test is repeated and remains high, what further diagnostic step is essential in confirming the presence and cause of Congenital Hypothyroidism.

<p>Measure free T4 levels (B)</p> Signup and view all the answers

A child presents with growth deceleration. Which aspect of their history would be MOST relevant in determining potential endocrine involvement?

<p>Maternal thyroid health during pregnancy. (D)</p> Signup and view all the answers

During a physical examination for growth assessment, what is the MOST appropriate method for measuring the stature of a 15-month-old child?

<p>Supine length, measured from the top of the head to the bottom of the heel. (B)</p> Signup and view all the answers

Which clinical finding on a child's skin would warrant further investigation for an endocrine or metabolic disorder?

<p>A dark, velvety line around the neck (acanthosis nigricans). (B)</p> Signup and view all the answers

During the physical exam of a child being evaluated for a potential endocrine disorder, what is the purpose of palpating the neck?

<p>To evaluate for thyroid gland symmetry and size. (D)</p> Signup and view all the answers

Which of the following statements BEST describes the role of tyrosine in thyroid hormone synthesis?

<p>Thyroid cells combine tyrosine and iodine to make T3 and T4. (B)</p> Signup and view all the answers

To assess bone age in a child with suspected endocrine dysfunction affecting growth, which radiographic study is MOST commonly used?

<p>X-ray of the left wrist. (B)</p> Signup and view all the answers

A child’s growth chart reveals a pattern of declining height percentile over the past year. What additional information from the child’s history would be MOST concerning for an endocrine disorder?

<p>New-onset fatigue, constipation, and declining academic performance. (D)</p> Signup and view all the answers

A newborn screening identifies a potential case of congenital hypothyroidism. Why is prompt diagnosis and treatment essential?

<p>To ensure optimal growth and neurodevelopment. (A)</p> Signup and view all the answers

A 4-year-old child is diagnosed with hypothyroidism. Which of the following L-thyroxine dosages aligns with the recommended guidelines?

<p>3-5 mcg/kg/day (B)</p> Signup and view all the answers

An 11-year-old is diagnosed with hypothyroidism. Besides referral to a pediatric endocrinologist, what other lab value might be elevated?

<p>Increased serum cholesterol (B)</p> Signup and view all the answers

A child with short stature is suspected of having Turner syndrome. Which diagnostic test is MOST appropriate to confirm this suspicion?

<p>Karyotype (D)</p> Signup and view all the answers

A child presents with proportionate short stature. Which of the following historical findings increases suspicion for Intrauterine Growth Retardation (IUGR)?

<p>Maternal hypertension during pregnancy (C)</p> Signup and view all the answers

A child's height is below the 3rd percentile. What ANNUAL growth rate is MOST concerning for a growth disorder and warrants further investigation?

<p>2 cm per year (A)</p> Signup and view all the answers

What finding is MOST indicative of proportionate short stature?

<p>Extremities, head, and trunk grow proportionally (A)</p> Signup and view all the answers

A child is diagnosed with Rickets, a form of disproportionate short stature. What physical examination finding would support this diagnosis?

<p>Bowed legs (A)</p> Signup and view all the answers

Which one of the following disorders is considered a primary growth disorder?

<p>Skeletal dysplasia (A)</p> Signup and view all the answers

A child presents with short stature, normal birth weight and length, and delayed puberty. Which additional finding would MOST suggest Constitutional Growth Delay (CGD)?

<p>Family history of short stature and delayed puberty. (C)</p> Signup and view all the answers

A 14-year-old male shows no signs of pubertal development during a routine physical exam. What is the MOST appropriate next step?

<p>Refer the patient to an endocrinologist for evaluation. (D)</p> Signup and view all the answers

A 9-year-old girl presents with breast budding and the development of pubic hair. This is determined to be precocious puberty. Which statement accurately describes precocious puberty?

<p>It refers to the onset of pubertal features earlier than the normal age range. (A)</p> Signup and view all the answers

Which of the following is the MOST likely underlying cause of polyuria, polydipsia, and polyphagia in a child newly diagnosed with Type 1 Diabetes Mellitus?

<p>Osmotic diuresis due to hyperglycemia exceeding the renal threshold. (C)</p> Signup and view all the answers

A child is suspected of having Constitutional Growth Delay (CGD). What finding would be LEAST consistent with this diagnosis?

<p>Advanced pubertal development. (D)</p> Signup and view all the answers

Family history is an important factor in diagnosing Constitutional Growth Delay. Short stature and delayed puberty in which family members are MOST relevant?

<p>Both parents. (C)</p> Signup and view all the answers

Which of the following BEST describes the underlying cause of Type 1 Diabetes Mellitus?

<p>Autoimmune destruction of pancreatic islet cells. (A)</p> Signup and view all the answers

What is the PRIMARY reason to refer a child suspected of having Constitutional Growth Delay (CGD) to an endocrinologist?

<p>To accurately differentiate CGD from growth hormone deficiency and other conditions. (C)</p> Signup and view all the answers

A 13-year-old patient with Type 1 Diabetes Mellitus presents to the clinic. Which physical exam finding is LEAST likely to be associated with this condition?

<p>Acanthosis nigricans (B)</p> Signup and view all the answers

Which of the following lab results is MOST indicative of Type 1 Diabetes Mellitus rather than Type 2 Diabetes Mellitus in a newly diagnosed 10-year-old?

<p>Presence of islet autoantibodies (B)</p> Signup and view all the answers

What is the MOST critical difference in the goal for HbA1c between children with Type 1 Diabetes and adults with Type 1 Diabetes?

<p>Children are allowed a slightly higher HbA1c to promote growth and development. (B)</p> Signup and view all the answers

A 14-year-old obese patient is diagnosed with Type 2 Diabetes and has a Hemoglobin A1c of 8.5%. After 3 months of lifestyle modifications, the HgbA1c remains at 8.3%. What is the MOST appropriate next step in management?

<p>Continue lifestyle modifications and add metformin. (C)</p> Signup and view all the answers

Which of the following lipid panel results would suggest the MOST need for intervention in a 12-year-old with Type 2 Diabetes?

<p>LDL 105 mg/dL, HDL 40 mg/dL, Triglycerides 130 mg/dL (C)</p> Signup and view all the answers

A 15-year-old female with Type 2 Diabetes is found to have polycystic ovary syndrome (PCOS). What is the MOST significant long-term health risk associated with PCOS in adolescent females with diabetes?

<p>Increased likelihood of infertility (D)</p> Signup and view all the answers

A 12-year-old patient with Type 1 Diabetes reports frequent episodes of nocturnal enuresis. Which of the following is the MOST likely contributing factor in this patient?

<p>Poorly controlled blood glucose levels leading to osmotic diuresis (B)</p> Signup and view all the answers

Which of the following statements BEST highlights a key difference in the typical onset of Type 1 versus Type 2 Diabetes in adolescents?

<p>Type 1 Diabetes often presents with ketosis, whereas Type 2 Diabetes rarely does. (B)</p> Signup and view all the answers

A 13-year-old male with Type 1 Diabetes is started on an insulin regimen that involves carb counting. How does carbohydrate intake PRIMARILY influence insulin dosage in this regimen?

<p>Insulin dosage is adjusted based on the quantity of carbohydrate consumed at each meal or snack. (A)</p> Signup and view all the answers

A 10-year-old child is suspected of having diabetes. A fasting blood sugar comes back at 120 mg/dL. What is the MOST appropriate next step?

<p>Repeat the fasting blood sugar test on another day (B)</p> Signup and view all the answers

Flashcards

Hypothyroidism Definition

A condition with a deficiency in circulating thyroid hormone.

Congenital Hypothyroidism

Present at birth, may stem from issues like thyroid gland absence or iodine assimilation problems.

Juvenile Acquired Hypothyroidism

Develops later in life, potentially caused by Hashimoto's thyroiditis or iodine deficiency.

Infant Hypothyroidism Symptoms

Lethargy, poor feeding, prolonged bilirubin elevation, large fontanels, bradycardia, and hypotonia.

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Older Child Hypothyroidism Symptoms

Weakness, muscle fatigue, cold intolerance, constipation, weight gain, and delayed bone age.

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Growth History Key Factors

Deviation from standard growth charts, rapid changes in height or weight, medication use and signs of endocrine/metabolic dysfunction.

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Physical Exam Key Elements

Stature, proportionate appearance, genitalia, sexual development stage (Tanner staging), hair distribution and skin conditions.

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Acanthosis Nigricans

Darkening of the skin around the neck, which can indicate high blood sugar or PCOS.

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Bone Age Assessment

X-ray evaluation of the left wrist to assess skeletal maturity in relation to chronological age.

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Endocrine/Metabolic Labs & Diagnostics

Genetic testing, hormone level measurement, and radiographic/imaging studies.

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T4 (Thyroxine) & T3 (Triiodothyronine)

Thyroid hormones that regulate growth and development; formed by combining iodine and tyrosine.

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Iodine Absorption

Thyroid cells are the only cells in the body with the ability to absorb and use it.

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Low Thyroxine Consequence

Growth and developmental problems.

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Decreased T3

Lowers the levels of T3, sometimes low, indicates hypothyroidism

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Increased Serum Cholesterol and Liver Enzymes

Higher-than-normal cholesterol and liver enzymes.

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Pediatric Endocrinologist

Refer to a specialist for hormonal issues in children.

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L-thyroxine

Replaces missing thyroid hormones.

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Growth Disorders

Disorders affecting growth, categorized by origin.

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Proportional Short Stature

Stature where body parts are proportionally small.

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Disproportionate Short Stature

Smaller limbs relative to the head and trunk.

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Short Stature Definition

Below the 3rd percentile for height or significant deviation from established growth curve.

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Constitutional Growth Delay (CGD)

Slower growth compared to peers, but not due to disease.

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Signs of Constitutional Growth Delay

Normal length and weight at birth, slower growth between 1-3 years, height below 3rd percentile, delayed puberty.

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Precocious Puberty

Puberty onset earlier than normal range, with accelerated growth and development of sexual characteristics.

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Delayed Puberty

No signs of puberty by age >14 (male) or >13 (female).

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Girls and Puberty progression

Progress to menarche within 5 years of breast budding.

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Boys and Puberty progression

Attain Tanner 5 within 4.5 years of puberty initiation.

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Diabetes Mellitus

A metabolic disorder with hyperglycemia due to insulin deficiency or reduced effectiveness.

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Type 1 Diabetes

Absolute insulin deficiency, acute onset, autoimmune destruction of islet cells, ketones present.

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Type 1 Diabetes Symptoms

Frequent diaper changes despite eating and drinking a lot, losing weight, and experiencing bedwetting.

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Diabetic Neuropathy

Nerve damage due to diabetes, causing tingling, numbness, or pain.

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Diabetic Ketoacidosis (DKA)

A dangerous complication where the body produces excess ketones due to lack of insulin.

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Fasting Blood Sugar (Diagnostic)

Blood sugar level ≥ 126 mg/dL on two separate occasions.

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Target HgbA1C (Youth with Type 1)

Maintaining HgbA1c < 7.5% to promote growth and development

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Carb Counting

Dietary teaching that involves counting carbohydrates to determine insulin dosage.

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Type 2 Diabetes (Race/Ethnicity)

More prevalent in Blacks, Asians, Native Americans, and Hispanics.

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PCOS (in Type 2 Diabetes)

Condition often seen with obesity in adolescent females, potentially leading to infertility.

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HgbA1C goal (Type 2)

HgbA1C goal of less than or equal to 7%.

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Initial Type 2 DM Treatment

Metformin & Lifestyle modification (Nutrition and exercise 60 minutes/3x per week).

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Congenital causes of Hypothyroidism

May affect fetus in first trimester, due to absence/underdevelopment of gland.

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Juvenile acquired Hypothyroidism causes

Results from Hashimoto’s thyroiditis, pituitary deficiency of TSH or iodine deficiency.

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High TSH Level

Elevated TSH levels indicate the need for retesting and Free T4 evaluation

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Low T4 Level

T4 (thyroxine) is decreased with hypothyroidism

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Stature Measurement

Measure from top of head to heel when child is < 2 yrs, standing tall if > 2 years

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Height Age

Assess height age, evaluate variance in height, compare to growth chart averages

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Tanner Staging

Inspect genitalia and identify stage of sexual development using Tanner staging

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Skin & Neck Exam

Examine skin and neck for signs like acanthosis nigricans and striae

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Thyroid Gland Palpation

Palpate size and symmetry to assess for normal/abnormal thyroid development.

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Bone Age Test

Evaluates development relative to chronological age using X-ray of left wrist.

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Serum and Urine Studies

Used to diagnose endocrine disorders; measures glucose, galactose, and amino acid levels.

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Thyroid Cells Function

Cells that use iodine and tyrosine to make T3/T4.

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Growth Delay

Delayed growth in kids compared to peers.

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True Precocious Puberty

Onset of puberty features earlier than normal.

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L-Thyroxine (Synthroid)

Hormone replacement therapy to treat hypothyroidism.

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Primary vs. Secondary Growth Disorders

Growth issues classified by their origin.

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Primary Growth Disorders

Skeletal dysplasia, chromosomal abnormalities, genetic short stature.

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Polyuria

Excessive urination.

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Secondary Growth Disorders

Undernutrition, chronic disease, endocrine disorders, idiopathic causes.

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Initial Growth Disorder Labs

CBC, ESR, urinalysis to screen for underlying conditions.

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Polydipsia

Excessive thirst.

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Hormonal Growth Labs

Measurement of IGF-1, IGFBP-3, Free T4 and TSH.

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Type 1 Diabetes Symptoms (Youth)

Frequent diaper changes, excessive thirst, increased hunger despite weight loss, and bedwetting.

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Severe Type 1 Diabetes Signs

Changes in consciousness, ranging from irritability to coma, loss of subcutaneous fat, muscle wasting & peripheral nerve issues.

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Diabetes Diagnostic Criterion (Fasting)

Serum fasting blood sugar ≥ 126 mg/dL on 2 separate occasions.

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Diabetes Diagnostic Criterion (Random)

Random blood sugar ≥ 200 mg/dL.

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Target HgbA1C (Youth)

A standard for youth is maintaining HgbA1C < 7.5% to promote growth and development.

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Type 2 Diabetes (Youth)

Diabetes that typically onsets after age 10, more common in certain ethnicities, and strongly linked to obesity.

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Insulin Dynamics (Type 2)

Low, normal, or high insulin secretion, decreased insulin sensitivity.

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Lipid Goals (Type 2 Youth)

LDL < 100 mg/dL, HDL > 45 mg/dL, Triglycerides < 125 mg/dL.

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Kidney Monitoring (Diabetes)

Annual urine test for microalbumin.

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Newborn Screening

Mandatory testing for newborns to detect hypothyroidism early.

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Hypothyroidism Treatment Goal

Restoring normal thyroid hormone levels to support proper development.

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Elevated TSH Implies...

An elevated TSH level indicates the need for further thyroid function evaluation.

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Congenital Hypothyroidism: Central Cause

May result from hypothalamic or pituitary disorders.

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Free T4 in Hypothyroidism

A decreased level of free T4 indicates hypothyroidism.

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Growth History Questions

Deviation from growth charts and recent changes in height or weight.

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Key History Factors

Medications, endocrine/metabolic symptoms, maternal iodine exposure, and onset of puberty signs.

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Physical Exam Focus

Stature, proportions, genitalia, sexual development stage (Tanner), hair distribution, and skin/neck conditions.

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Endocrine Diagnostic Tools

Genetic tests and hormone level measurements in serum and urine.

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Bone Age Determination

X-ray of the left wrist showing developing the appropriate development for the given age.

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Thyroid Hormone Function

The thyroid converts iodine to T3 and T4, which are essential for growth and development.

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Iodine Absorption Location

Cells in the body, are the only ones that have ability to absorb iodine.

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Low Thyroxine Outcome

Causes growth and development problems in infants and children.

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Hyponatremia

Low sodium level in the blood.

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Hypoglycemia

Low blood sugar level.

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Anemia

A decrease in red blood cells.

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Growth Disorders Classifications

Affects growth and may be primary or secondary.

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Constitutional Delay

Bone age matches the height.

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Disproportionate Stature

Smaller limbs compared to head/trunk changes in lower extremity size.

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Rickets

Vitamin D deficiency causing bone issues.

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Constitutional Growth Delay

A growth pattern variant, not a disease, with normal growth velocity and delayed bone age.

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Polyphagia

Excessive hunger.

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Classic T1DM Symptoms

Frequent diaper changes, excessive thirst, increased hunger despite weight loss.

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Severe T1DM Signs

May include irritability, ranging to coma. Also includes loss of SQ fat, muscle wasting & peripheral nerve damage.

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Type 1 Diabetes Cause

Autoimmune destruction of pancreatic beta cells, leading to absolute insulin deficiency.

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Fasting Blood Sugar (Diabetes)

≥ 126 mg/dL on 2 separate occasions.

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Random Blood Sugar (Diabetes)

≥ 200 mg/dL.

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Target HgbA1C (Youth with T1DM)

Less than 7.5%.

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Carb Counting (Diabetes)

Counting carbohydrates to determine insulin dosage.

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Type 2 Diabetes in Youth

More common in Blacks, Asians, Native Americans, and Hispanics; strongly linked to obesity.

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Study Notes

The History

  • Key questions to ask include the child’s growth pattern, any recent changes (weight, height), and medications affecting endocrine or metabolic function.
  • Inquire about signs or symptoms of endocrine/metabolic dysfunction and maternal exposure to certain substances during pregnancy.
  • It's important to note the child's diet and exercise history and any family history of endocrine or autoimmune disorders.
  • Other key indicators are unusual odors, recurrent vomiting, or unexplained lethargy.

The Physical Exam

  • Stature measurement differs by age, supine for kids <2 yrs, standing for kids >2 yrs.
  • Check for proportionate appearance via sitting/standing heights.
  • Height age, genitalia, and stage of sexual development (Tanner staging) should be assessed.
  • Document facial, axillary, and pubic hair.
  • Skin and neck examination might reveal acanthosis nigricans (hyperglycemia/PCOS) or striae (extended growth/obesity).
  • Palpate the neck to assess thyroid gland symmetry/size for thyroid development issues.
  • Check for dysmorphic features, and complete a general neurological exam.
  • Palpate the abdomen to check for organomegaly.

Labs/ Diagnostics for Endocrine and Metabolic Disorders

  • Genetic testing assists in identifying metabolic and endocrine dysfunctions.
  • Hormone level measurements are a key tool.
  • Blood and urine profiles can show glucose, galactose, and amino acid levels for diagnosis of diabetes and other metabolic problems.
  • Radiographic and imaging studies, including bone age X-rays determine where they should be compared to what is normal for their age.
  • Ultrasound, CT scans, and MRIs can also assist in diagnosis.

Understanding Low Thyroid Function

  • Iodine is taken in many foods, and the body turns it into thyroxine (T4) and triiodothyronine (T3).
  • Thyroid cells are the only ones capable of absorbing iodine, combining it with the amino acid tyrosine to make T3 and T4.
  • Low thyroxine levels result in growth and development concerns, particularly in younger children.
  • Congenital hypothyroidism is present in 1 in 200-1/3000 births, impacting developmental potential.
  • 10-20% of cases are inherited, and 4.6% of US children 12+ have hypothyroidism.

Hypothyroidism

  • Insufficient circulating thyroid hormone characterizes the condition.
  • Congenital hypothyroidism develops while in utero or via absence/underdevelopment of thyroid gland.
  • It can also stem from inherent dysfunction in iodine transport/assimilation or hypothalamic/pituitary disorders.
  • Juvenile acquired hypothyroidism may result from Hashimoto's thyroiditis, pituitary deficiency of TSH, iodine deficiency, or thyroid gland damage.

Hypothyroidism Signs and Symptoms

  • Neonates/infants may show lethargy, poor feeding, prolonged bilirubin elevation, growth deceleration, large fontanels, bradycardia, and hypotonia.
  • Older children's symptoms include weakness, muscle fatigue, arthralgia, cramps, cold intolerance, constipation, weight gain, mental/physical sluggishness, delayed bone age, poor growth, puffy eyes, and a thick tongue.

Labs/Diagnostic Tests for Hypothyroidism

  • Newborn screening is mandatory.
  • If Free T4 (not bound) is decreased, it is a significant indicator for hypothyroidism.
  • High TSH mandates a repeat test with added free T4 to reevaluate thyroid function.
  • T3 may sometimes register as low.
  • Other indicators are increased serum cholesterol and liver enzymes, hyponatremia, hypoglycemia, and anemia.

Hypothyroidism Management

  • Early referral to a pediatric endocrinologist is advised.
  • Treatment involves L-thyroxine (Synthroid) hormone replacement, with dosage varying based on age: 4-6 mcg/kg/day (1-3 yr), 3-5 mcg/kg/day (3-10 yr), 2-4 mcg/kg/day (10-16 yr), and 1.6 mcg/kg/day (>17 yr).
  • Thyroid function tests (TFT) include TSH, T4, and T3 level analysis

Growth Disorders

  • Growth disorders are classified as primary or secondary, a common pediatric problem.
  • Primary growth disorders: skeletal dysplasia, chromosomal abnormalities, and genetic short stature.
  • Secondary (due to another cause): undernutrition, from chronic disease, endocrine disorder, or idiopathic (constitutional) growth delay.

Labs/ Diagnostics for Growth Disorders

  • Tests include CBC, ESR, urinalysis, celiac/IBD screening, a chemistry pane, growth factor, a bone x-ray, and thyroid function test.
  • Karyotype testing can rule out Turner syndrome.
  • Measurement of growth hormone (GH) with stimulation testing.

Short Stature

  • Height is less than the 3rd percentile or falls 2 standard deviations below the mean.
  • Failure to grow more than 4 cm per year impacts 5% of the population.
  • Constitutional delay means bone age is consistent with height age.
  • Slow growth for the first 2 to 3 years of life then low-normal growth velocity is typical.
  • Adults often have a family history of short stature and delayed puberty.
  • In proportional short stature, extremities, head, and trunk grow proportionally as a result of intrauterine growth retardation, maternal/fetal infection, chromosomal abnormalities. Also possible is FTT, hypopituitarism, growth hormone deficiency, diabetes or hypothyroidism
  • In disproportionate stature, smaller extremities relative to the head.
  • Achondroplasia results in short arms and legs relative to the head/trunk, while rickets (Vitamin D deficiency) causes delayed growth, bow legs, weakness, and pain in the spine and legs.
  • Down’s syndrome, which is a genetic chromosome 21 disorder can also impact physical/intellectual growth.

Constitutional Growth Delay

  • It represents a common growth pattern variation/ not considered a disease.
  • Child has no evidence of chronic illness, having a delayed bone age with normal growth velocity.
  • Normal adult height is generally reached, albeit slightly shorter than family members: normal birth length/weight; slower linear growth between ages 1 and 3, height <3rd percentile, and delayed pubertal development.
  • Refer to an endocrinologist to differentiate between CGD and GHD.

Disorders of Puberty

  • True precocious puberty: early onset of multiple puberty features: accelerated linear growth, breast development, and penile enlargement/pubic hair development.
  • Delayed puberty: lack of clinical features of puberty beyond age 14 (boys) or 13 (girls): girls should progress to menarche within 5 years of breast budding, and boys should attain tanner 5 status within 4.5 years of puberty initiation, refer to endocrinologist for evaluation of hypogonadism.

Children and Diabetes

  • Diabetes is the 3rd most common chronic disease in childhood; roughly 208,000 individuals under 20 in the US are affected (2.2/1000).
  • This is a syndrome of disordered metabolism and inappropriate hyperglycemia from either an absolute insulin deficiency or diminished biological effectiveness
  • Type 1 (insulin deficiency): usually appears early with acute onset and relates to Human leukocyte antigens (HLA-DR3 or HLA-DR4) - destruction of pancreatic islet cells (autoimmune process), and often includes ketones in blood /urine.

Diabetes Mellitus Type 1 Signs and Symptoms

  • The 3 Ps are polyuria, polydipsia, polyphagia.
  • Other signs include nocturnal enuresis, weight loss with increased hunger, fatigue, weakness, paresthesia, LOC changes (irritability to coma), loss of SQ fat/muscle wasting, dysfunction of peripheral sensory nerves, dehydration, and diminished Deep Tendon Reflexes.

Diabetes In Youth Type 1

  • Age of onset is all ages with distribution equal among everyone.
  • It impacts more non-Hispanic whites, but everyone is affected.
  • There is no link to obesity to type 1 diabetes.
  • Around 5%-10% have 1st degree relative, with very low insulin secretion, but normal insulin sensitivity.
  • Onset begins acute and manifests with Ketosis or DKA in 1/3 of new cases.
  • Hypertension is uncommon but Islet autoimmunity is present

Labs and Diagnostics for Diabetes

  • Elevated serum fasting glucose levels with values ≥ 126 mg/dL on two separate occasions indicate diabetes.
  • High random blood sugar reads ≥ 200 mg/dL, shows hyperglycemia.
  • Glucose levels are elevated by ≥ 200mg/dL after eating, demonstrating issues with metabolism.
  • Low C-peptide levels and presence of autoimmune markers are consistent with Type 1 DM.
  • Urine samples should be tested for presence of glucose/ketones.
  • A CMP can be used to screen for acid-base, DKA, or plasma ketones.
  • Check to make sure that serum BUN and creatinine are elevated.
  • Elevated Hgb A1c is usually at or greater than 6.5% along and screenings for thyroid autoantibodies.

Diabetes Management

  • Rather that base glycemic control on age, the new standard is maintain a HgbA1C less than 7.5% for all youth.
  • Insulin is started at diagnosis and blood glucose will continue to be monitored.
  • Dietary and diabetes education is important for nutrition and lifestyle.
  • Blood glucose monitoring is an important tool to determine hyper or hypoglycemia.

Diabetes in Youth Type 2

  • Age of onset tends to present in those >10 years of age and is common to everyone.
  • This is more frequent in Blacks, Asians, Native Americans, Hispanics, with > 90% link to obesity
  • Around 80% have 1st degree relative, Low, normal or high secretions, decreased Islet sensitivities
  • It shows subtle to severe symptoms with Ketosis is an uncommon sign, while hypertension is common + PCOS.

Type 2 Diabetes goals

  • The plan must be individualized with Hgb A1C less than or equal to 7%, LDL < 100 mg/dL, HDL >45 mg/dL, and Triglycerides < than 125 mg/dL
  • There has to be continuous Control of hypertension and hyperlipidemia.
  • Follow up has routine annual check-ups as well annual urine test, q3-4 months testing of (HbgA1C) of glucose levels.

Type 2 DM Management

  • Patients with Hgb A1C 7%-10% show initial treatment, support lifestyle changes with nutrition and 60 minutes of exercise thrice weekly.
  • Metformin is a first-line pharmacotherapy for 3-6 months, but if Hgb A1C remains <7% is not achieved in 3-6 months consider metformin, and addition of insulin if those does not achieve goals.

Thyroid Screening

  • The best screening test for detecting hyperthyroidism, as well as hypothyroidism is the TSH level; if abnormal, additional tests must be ordered.

Delayed Puberty

  • Refer 16 year olds to an endocrinologist if there is no appearance of secondary sex characteristics; specifically no testes by 14 years of age.

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