Pediatric Endocrine Disorders: Diagnosis, Causes, and Management PDF

The History What is the child’s growth pattern? Has there been a recent change? Dropped weight? Significant height change, growth chart deviation change. Is the child taking any medication that could affect the endocrine or metabolic function? Review med list. Have there been sig...

The History What is the child’s growth pattern? Has there been a recent change? Dropped weight? Significant height change, growth chart deviation change. Is the child taking any medication that could affect the endocrine or metabolic function? Review med list. Have there been signs or symptoms of endocrine or metabolic dysfunction? Was there maternal exposure to radioiodine, goitrogens or iodine medication during pregnancy that would affect child’s growth? When did the child first show signs of sexual development? What is the child’s diet and exercise history? Attributing to weight gain or loss? Is the a family history of endocrine or autoimmune disorders? Does the child have unusual odors, recurrent vomiting or explained lethargy?  The Physical Exam Measure stature (supine 2yr). Measure from top of head to bottom of heel < 2 yr, stand tall > 2 yr Check for proportionate appearance (sitting/standing heights) Assess height age, see variance in height, but review growth chart average Inspect genitalia Identify stage of sexual development (Tanner staging) Note facial, axillary, pubic hair Examine skin and neck (acanthosis nigricans: dark line around neck that reveals hyperglycemia or PCOS, striae: sign of extended growth, obesity) Palpate neck for thyroid gland symmetry and size to identify thyroid development, hypothyroid or hyperthyroidism Examine for presence of dysmorphic features (chromosomal problems) Exam abdomen for organomegaly (enlarged liver/spleen) Complete general neurologic exam  Labs/ Diagnostics Endocrine and Metabolic Disorders Genetic testing that contribute to metabolic and endocrine dysfunction Measurement of hormone levels is a key tool in the diagnosis of endocrine disorders. Serum and urine studies- glucose for diabetes, galactose for metabolic problems, amino acids are indicators for diagnosis Radiographic and imaging studies Bone age: developing according to where they should for age? Determined by Xray on left wrist Ultrasound CT Scan MRI  Understanding Low thyroid function Is to take iodine found in many foods, and convert it into thyroid hormones: thyroxine (T4) and triiodothyronine (T3). Thyroid cells are the only cells in the body which can absorb iodine. The cells combine iodine and the amino acid tyrosine to make T3 and T4. Low thyroxine causes growth and development problems for the infant and younger child. 1/200-1/3000 born with congenital hypothyroidism, significant in growth and development potential. Important to replace thyroid hormone so they can grow to normal height + intelligence 10%-20% are inherited 4.6% of children 12 and older in US have hypothyroidism (very common in children) Hypothyroidism Definition: A condition resulting in lack of circulating thyroid hormone Causes Congenital May affect fetus in first trimester Absence or under development of thyroid gland Inherent dysfunction in transport/assimilation of iodine Hypothalamic or pituitary disorder Juvenile acquired Hashimoto’s thyroiditis Pituitary deficiency of TSH Iodine deficiency Damage to the thyroid gland Signs and Symptoms Neonates/Infants Older children No obvious symptoms in Weakness, muscle fatigue the first month of life Arthralgia, cramps Lethargy, poor feeding Cold intolerance Prolonged bilirubin Constipation elevation Weight gain Growth deceleration Mental/physical Large fontanels sluggishness Bradycardia Delayed bone age Hypotonia Poor growth Puffy eyes and thick tongue Labs/ Diagnostic Tests Newborn screening mandatory Elevated TSH When a high TSH is noted, repeat the test and add a free T4 to reevaluate thyroid function Decreased T3 and T4 The T4 (thyroxine) will be decreased with hypothyroidism Free T4 (not bound) will be decreased with hypothyroidism. If this is also decreased, significant for hypothyroidism indication T3 sometimes low Increased serum cholesterol and liver enzymes Hyponatremia, hypoglycemia Anemia Management Refer to pediatric endocrinologist L-thyroxine (Synthroid) hormone replacement For ages 1 to 3 yr: 4-6 mcg/kg/day For ages 3 to 10 yr: 3-5 mcg/kg/day For ages 10 to 16 yr: 2-4 mcg/kg/day For ages > 17 yr: 1.6 mcg/kg/day TFT levels (Thyroid function tests): TSH, T4, T3  Growth Disorders Growth disorders are classified as primary or secondary (common pediatric problem) Primary Skeletal dysplasia Chromosomal abnormalities Genetic short stature Secondary (due to another cause) Undernutrition Chronic disease Endocrine disorder Idiopathic (constitutional) growth delay Labs/ Diagnostics CBC and ESR Urinalysis Screening for GI illness (Celiac disease, IBD) Chemistry panel (BMP) Growth factors (insulin-like growth factor IGF-1 and insulin-like growth factor-binding protein 3 IGFBP-3) Thyroid function tests: Free4 and TSH Bone Xray of left wrist and hand Karyotype to rule out turner syndrome (short neck and stature) Measurement of Growth hormone (GH)- stimulation testing using arginine, levodopa, clonidine, glucagon  Short stature Proportional short stature Disproportionate Stature Extremities, head, and trunk Smaller extremities than head or grow proportionally changes in lower extremity size Intrauterine growth retardation Dwarfism IUGR Achondroplasia- arms and legs are short in comparison to the head and Maternal/fetal infection trunk Chromosomal abnormalities FTT (nutrition is important for Rickets growth) Vitamin D deficiency- delayed Hypopituitarism growth, bow legs, weakness, pain in spine and legs Growth hormone deficiency Diabetes Down’s Hypothyroidism Genetic chromosome 21 disorder, physical growth and intellectual delays  Short stature Height less than 3rd percentile Height falls 2 standard deviations below the mean, or marked deviation from previously established growth curve Failure to grow more than 4 cm per year 5%of the population Constitutional delay: Bone age consistent with height age Slow growth for the first 2 to 3 years of life then low-normal growth velocity. As they age, not attaining height compared to other kids Family history of short stature (look at both parents) and delayed puberty are often present Constitutional Growth Delay A common growth pattern variation and should not be considered a disease entity Child has NO evidence of chronic illness Delayed bone age with growth velocity normal Generally, reach normal adult height, may be slightly shorter compared with other family members Normal length and weight at birth Slower liner growth between 1 to 3 years of age Height < 3rd percentile on growth charts Delayed pubertal development Refer to Endocrinologist – to differentiate between CGD from GHD and possible hormone replacement (injections at night to stimulate growth hormone) Disorders of Puberty True precocious puberty Refers to the onset of multiple features of puberty earlier than the normal range Accelerated linear growth, breast development Penile enlargement, pubic hair development (stresses child) Delayed puberty Considered when a boy > 14 years old or girl > 13 has no clinical features of puberty upon physical exam Girls should progress to menarche within 5 years of breast budding Boys should attain tanner 5 within 4.5 years of initiation of puberty Refer to endocrinologist for evaluation of hypogonadism  Diabetes is the 3rd most common chronic disease in childhood Type 1 or 2 affects approximately 208,000 individuals 20 years old or younger in the US (2.2/1000) Represents a syndrome with disordered metabolism and inappropriate hyperglycemia due to either an absolute deficiency of insulin secretion or reduction in its biologic effectiveness Type 1 (absolute insulin deficiency) Acute onset that occurs early in life Human leukocyte antigens (HLA-DR3 or HLA-DR4) associated Destruction of pancreatic islet cells (autoimmune process) Ketones in blood and urine  Diabetes Mellitus Type 1 Signs and symptoms 3 Ps (polyuria, polydipsia, polyphagia). Changing diaper frequently, drinking everything, eating but losing weight Nocturnal enuresis Weight loss, with increase hunger Fatigue, weakness paresthesia LOC changes range from irritability to coma Loss of SQ fat and muscle wasting Dysfunction of peripheral sensory nerves May show signs of dehydration Diminished DTRs  Diabetes in Youth Type 1 Age All ages Gender Equal distribution Race/ethnicity Non-Hispanic whites, all ethnic groups Obesity Not related to type 1 diabetes Family history 5%-10% have 1st degree relative Insulin secretion very low Insulin sensitivity normal Onset Acute, severe Ketosis, DKA 1/3 of new cases Hypertension uncommon Islet autoimmunity present  Labs/Diagnostics Serum fasting Blood sugar greater or equal to 126 mg/dl on 2 separate occasions is diagnostic Random BS greater than or equal to 200 mg/dl Postprandial (2 hours after eating) 200mg/dL Low C-peptide levels and presence of one or more autoimmune markers are consistent with Type 1 DM diagnosis Urine for glucose and ketones CMP, metabolic screen for acid-base, DKA Plasma ketones Serum BUN and creatinine elevated Elevated Hgb A1c 6.5% or greater Screen for thyroid autoantibodies  Management Rather that base the glycemic control on age, the new standard is maintain a HgbA1C less than 7.5% for all youth to promote growth and development (more strict in adults) Insulin started at time of diagnosis Blood glucose monitoring Hypoglycemia/Hyperglycemia signs Dietary teaching- Carb counting + determines insulin amount Diabetes education: nutrition, exercise, lifestyle modifications, complications, school and social issues, follow up  Diabetes in Youth - Type 2 Age at onset >10 years old Race/ethnicity more frequent in Blacks, Asians, Native Americans, Hispanics Obesity > 90% Family history 80% have 1st degree relative Insulin secretion Low, normal or high Insulin sensitivity Decreased Onset Subtle to severe Ketosis uncommon Hypertension common PCOS common (adolescents that are obese, can lead to infertility)  Type 2 Diabetes Goals for Children / Adolescents Plan must be individualized HgbA1C less than or equal to 7% (little stricter than kids due to already growing) LDL less than 100 mg/dL HDL greater than 45 mg/dL Triglycerides less than 125 mg/dL Control of hypertension and hyperlipidemia Annual eye exam Annual urine test for microalbumin for kidney dysfunction HbgA1C and plasma glucose level q3-4 months; children with stable goals and meeting goals q6 months Follow up q3-4 months on nutrition, lifestyle, obesity  Type 2 DM Management - Youth Patients with Hgb A1C 7%-10% Initial treatment Metformin first line pharmacotherapy 3-6 months Lifestyle modifications (Nutrition and exercise 60 minutes/3x per week) If Hgb A1C