Human Growth and Development Quiz
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Questions and Answers

What characterizes the infantile phase of human growth?

  • Linear growth is initially slow and then accelerates.
  • Growth plate development determines the height at this stage.
  • Growth is slow and steady throughout the phase.
  • There is a rapid initial growth of about 25 to 30 cm. (correct)
  • Which hormone is crucial during the intrauterine phase for determining newborn size?

  • Estrogen
  • Insulin (correct)
  • Growth Hormone
  • Testosterone
  • In which growth phase is the average growth velocity per year approximately 5 to 7 cm?

  • Intrauterine phase
  • Childhood phase (correct)
  • Infantile phase
  • Pubertal phase
  • What is the significance of the growth plate in human growth?

    <p>It is essential for longitudinal growth.</p> Signup and view all the answers

    What is the average height growth during puberty?

    <p>8 to 14 cm per year</p> Signup and view all the answers

    Which growth charts are currently recommended for measuring children under 2 years of age?

    <p>WHO international charts (2006)</p> Signup and view all the answers

    What is a key indicator of health in children concerning growth?

    <p>Serial measurements of growth patterns.</p> Signup and view all the answers

    What factors influence the determination of normal height in children?

    <p>Age, sex, and ethnic group.</p> Signup and view all the answers

    What is a significant side effect associated with Chloramphenicol in infants?

    <p>Gray baby syndrome</p> Signup and view all the answers

    Which class of antibiotics is known for potentially damaging growing cartilage in children?

    <p>Fluoroquinolones</p> Signup and view all the answers

    Which antibiotic is absolutely contraindicated in children due to its effects on bone growth and teeth?

    <p>Tetracycline</p> Signup and view all the answers

    What side effect is associated with Aminoglycosides?

    <p>Nephrotoxicity</p> Signup and view all the answers

    Which type of antibiotic primarily covers gram-positive bacteria?

    <p>Glycopeptides</p> Signup and view all the answers

    What is a common side effect of Tetracyclines?

    <p>Bone growth inhibition</p> Signup and view all the answers

    Which antibiotic class binds to the 50S ribosomal subunit?

    <p>Macrolides</p> Signup and view all the answers

    Which of the following is a relative contraindication for use in pediatric patients?

    <p>Fluoroquinolones</p> Signup and view all the answers

    What is the genetic inheritance pattern most commonly associated with the condition described?

    <p>X-linked recessive inheritance</p> Signup and view all the answers

    Which of the following is a significant clinical feature of the condition?

    <p>Gross hematuria</p> Signup and view all the answers

    What is the best initial laboratory test for diagnosing the condition?

    <p>Urinalysis</p> Signup and view all the answers

    Which of the following findings is likely absent in the skin biopsy of a patient with the condition?

    <p>Type IV collagen alpha-5 chains</p> Signup and view all the answers

    Patients diagnosed with the condition should undergo which type of evaluations regularly?

    <p>Audiometric evaluation</p> Signup and view all the answers

    Which class of medication is commonly prescribed for patients exhibiting proteinuria?

    <p>ACE inhibitors</p> Signup and view all the answers

    What is the characteristic appearance of the kidney tissue in a biopsy of a patient with the condition if the skin biopsy is inconclusive?

    <p>Basket-weave appearance</p> Signup and view all the answers

    In which age range does end-stage renal disease typically manifest in patients with this condition?

    <p>16 to 35 years</p> Signup and view all the answers

    What is the primary goal of empiric antibiotic therapy?

    <p>To provide immediate treatment for suspected life-threatening infections</p> Signup and view all the answers

    Which of the following antibiotics is NOT typically used for pediatric empiric therapy?

    <p>Tetracyclines</p> Signup and view all the answers

    When choosing an empirical antibiotic agent, it is important to consider which of the following factors?

    <p>Host factors and previous antibiotic therapy</p> Signup and view all the answers

    Which combination is indicated for treating a neonate with suspected bacterial infection?

    <p>Ampicillin + gentamicin + cefotaxime</p> Signup and view all the answers

    Which antibiotic is often used for prophylaxis against infective endocarditis?

    <p>Amoxicillin</p> Signup and view all the answers

    Which symptom is NOT typically associated with Henoch-Schönlein purpura (HSP)?

    <p>Severe hypertension</p> Signup and view all the answers

    What is the primary characteristic of the purpura seen in Henoch-Schönlein purpura?

    <p>Non-blanching lesions</p> Signup and view all the answers

    What is the typical time frame for the onset of symptoms after an infection in patients with post-streptococcal glomerulonephritis (PSGN)?

    <p>10-20 days after the infection</p> Signup and view all the answers

    Which medication is commonly used for patients with severe or rapidly progressing disease of minimal change disease?

    <p>Glucocorticoids PLUS cyclophosphamide</p> Signup and view all the answers

    Which of the following laboratory findings would indicate a diagnosis other than Henoch-Schönlein purpura?

    <p>Thrombocytopenia</p> Signup and view all the answers

    What is the peak occurrence age for Henoch-Schönlein purpura?

    <p>6 years old</p> Signup and view all the answers

    What is the most common type of skeletal dysplasia associated with short stature?

    <p>Achondroplasia</p> Signup and view all the answers

    Which of the following is a hallmark for the biopsy findings in Henoch-Schönlein purpura?

    <p>IgA deposition in small vessels</p> Signup and view all the answers

    Which genetic mutation is primarily associated with achondroplasia?

    <p>Mutation in FGFR3</p> Signup and view all the answers

    In patients with Alport syndrome, which symptom is least likely to be present?

    <p>Joint pain</p> Signup and view all the answers

    Which treatment is recommended for mild cases of Henoch-Schönlein purpura?

    <p>NSAIDs for pain management</p> Signup and view all the answers

    What is one of the primary clinical features of osteogenesis imperfecta?

    <p>Brittle bones</p> Signup and view all the answers

    Which factor is NOT considered a potential trigger for Henoch-Schönlein purpura?

    <p>Cigarette smoking</p> Signup and view all the answers

    Which syndrome is characterized by a complete absence of an X chromosome?

    <p>Turner syndrome</p> Signup and view all the answers

    What type of collagen defect is associated with Alport syndrome?

    <p>Type IV collagen</p> Signup and view all the answers

    Which clinical feature is NOT typically associated with Turner syndrome?

    <p>Hyperphagia</p> Signup and view all the answers

    What is one of the treatment options for achondroplasia?

    <p>Growth hormone administration</p> Signup and view all the answers

    Which condition is often confused with Henoch-Schönlein purpura due to similar symptoms?

    <p>IgA nephropathy</p> Signup and view all the answers

    IgA nephropathy is known for which clinical feature?

    <p>Synpharyngitic hematuria</p> Signup and view all the answers

    What is a common gastrointestinal symptom associated with Henoch-Schönlein purpura?

    <p>Colicky abdominal pain</p> Signup and view all the answers

    Which condition presents with blue sclerae and easy bruising due to defective collagen synthesis?

    <p>Osteogenesis imperfecta</p> Signup and view all the answers

    For patients with Henoch-Schönlein purpura, which finding on a urinalysis would most likely indicate renal involvement?

    <p>Proteinuria</p> Signup and view all the answers

    What common laboratory finding might suggest IgA nephropathy?

    <p>Persistent microhematuria</p> Signup and view all the answers

    Which of the following is a characteristic feature of Prader-Willi syndrome?

    <p>Hypotonia</p> Signup and view all the answers

    What is the primary cause of hearing loss in osteogenesis imperfecta?

    <p>Defective ossicles</p> Signup and view all the answers

    Which age group is IgA nephropathy most commonly diagnosed in?

    <p>Adults in second to third decades of life</p> Signup and view all the answers

    What is a common treatment option for osteogenesis imperfecta?

    <p>Bisphosphonates</p> Signup and view all the answers

    What common symptom might indicate the presence of chronic glomerulonephritis?

    <p>Asymptomatic hematuria</p> Signup and view all the answers

    What is the target height formula for girls?

    <p>(Mother's height + Father's height - 13) / 2</p> Signup and view all the answers

    Which condition is classified as disproportionate short stature?

    <p>Osteochondrodysplasia</p> Signup and view all the answers

    What is a common cause of short stature with unknown origin, covering 80% of cases?

    <p>Constitutional short stature</p> Signup and view all the answers

    What defines short stature in children?

    <p>Height at least 2 SD below the mean for age and sex</p> Signup and view all the answers

    Which of the following is NOT a cause of postnatal short stature?

    <p>Achondroplasia</p> Signup and view all the answers

    What is the typical incidence of short stature referrals to a pediatric endocrinologist?

    <p>3 to 5%</p> Signup and view all the answers

    What is the defining feature of proportional short stature?

    <p>Short limbs in relation to trunk</p> Signup and view all the answers

    Which syndrome is characterized by excessive sweating and feeding problems in infancy?

    <p>Silver-Russell syndrome</p> Signup and view all the answers

    What laboratory test is NOT typically used to confirm GH deficiency?

    <p>Serum GH level</p> Signup and view all the answers

    Which of the following is included in the goals of GH treatment?

    <p>Aim for heights of up to 170 cm for males</p> Signup and view all the answers

    Which gene mutation is responsible for Achondroplasia?

    <p>FGFR3 gene</p> Signup and view all the answers

    What is the expected outcome for 80-90% of children classified as small for gestational age (SGA)?

    <p>They will experience partial or complete catch-up growth</p> Signup and view all the answers

    What is a characteristic of congenital growth hormone deficiency?

    <p>Hypoglycemia in newborns</p> Signup and view all the answers

    Which condition is referred to as the 'male version of Turner syndrome'?

    <p>Noonan syndrome</p> Signup and view all the answers

    Study Notes

    Growth Disorders

    • Human growth is a continuous, though not linear, process, divided into infantile, childhood, and pubertal phases, each with distinct patterns. Timing and speed of growth differ between boys and girls, especially during puberty.
    • Intrauterine growth is primarily influenced by maternal nutrition and placental factors. Insulin plays a role by stimulating IGF1/2 production. A newborn's typical length is around 50 cm.
    • Infantile phase (first two years): Growth is initially rapid, then decelerates. Typical growth during this period is 25 to 30 cm.
    • Childhood phase (3 years to adolescence): Growth is relatively constant at 5 to 7 cm per year, with some slowing in later childhood.
    • Pubertal phase: Characterized by a growth spurt, typically 8 to 14 cm per year. Increased gonadal steroids (testosterone and estrogen) and growth hormone (GH) synergistically drive this growth, along with IGF-1.
    • The growth plate is crucial for longitudinal growth.
    • Serial growth measurements are vital for monitoring child health. Normal growth patterns suggest good health; slower-than-normal growth may indicate underlying illness, including hormonal issues.
    • Auxological parameters (height/length, weight, BMI) are fundamental for assessing potential short stature.

    Measurement of Growth

    • Newborn measurements (length, weight, head circumference) are crucial, compared to gestational age.
    • Infantometer is used to measure newborns and infants.
    • Children over two years are measured by height, weight, and head circumference, corresponding to their gender. Stadiometer is used for standing measurements.
    • WHO international growth charts (2006) are recommended for children under two; local charts are used for older children.
    • Normal height is based on age, sex, ethnicity, and family context. Target height is calculated based on parental heights (differing calculations for boys and girls).

    Short Stature

    • Short stature is defined as a height 2 standard deviations below the mean for the same age, sex, and ethnic group (or below the 3rd percentile). Common causes include familial factors or constitutional delay.
    • Growth failure is a growth rate below normal.
    • Short stature is a frequent reason for referral to pediatric endocrinologists, with an incidence of 3-5%.
    • Growth hormone deficiency prevalence is around 1 in 4000.

    Classification

    • Proportionate short stature: Limbs are proportionate to the trunk, often familial.
    • Disproportionate short stature: Limbs are disproportionately shorter than the trunk, associated with skeletal dysplasia.

    Etiology of Short Stature

    • Unknown origin (Idiopathic short stature): Accounts for ~80% of cases, including familial and constitutional short stature. Constitutional short stature arises from delayed puberty.

    • Prenatal origin:

    • Disproportionate SS: osteochondrodysplasia (e.g., achondroplasia, hypochondroplasia - FGFR3 gene mutations), osteogenesis imperfecta (collagen 1 gene mutations), SHOX gene-related conditions (e.g., Leri-Weill dyschondroosteosis, Langermesomelic dysplasia).

    • Proportionate SS: Silver-Russell syndrome (IUGR, feeding problems, triangular face, clinodactyly), Turner syndrome (45XO), Noonan syndrome (autosomal dominant, "male Turner syndrome"), Prader-Willi syndrome (SNPRN and Necdin gene defects, hypotonia, severe obesity).

    • Congenital growth hormone deficiency

    • Small for gestational age (SGA): Birth weight and/or length are 2 standard deviations below the mean for gestational age. Most SGA children experience catch-up growth in the first and second year.

    • Postnatal origin:

    • Endocrine disorders: Growth hormone deficiency, hypothyroidism, chronic hypercortisolism (including glucocorticoid use), sex steroid excess, pseudohypoparathyroidism.

    • GI disorders: Inflammatory bowel disease, celiac disease.

    • Renal disorders: Chronic kidney disease.

    • Pulmonary disorders: Asthma, cystic fibrosis. Postnatal short stature is not usually due to GH deficiency, but rather related organ pathologies.

    Growth Hormone Deficiency

    • Congenital: Presents in newborns (hypoglycemia in some forms), toddlers/preschoolers with lifelong short stature, doll-like facies, truncal obesity, and brachydactyly.
    • Acquired: Results from trauma, tumors (craniopharyngeoma), or autoimmune conditions.

    Diagnosis of Short Stature

    • History (perinatal, family).
    • Physical exam (auxological parameters, pubertal stage).
    • Growth pattern analysis.
    • X-ray of left hand and wrist (bone age).
    • Laboratory tests (CBC, CRP/ESR, biochemical markers, renal/liver/thyroid tests, urinalysis).

    Tests to Confirm GH Deficiency:

    • IGF-1 measurement.
    • Stimulation tests (insulin tolerance test, clonidine test, glucagon test). MRI of pituitary for follow up.
    • Treatment: addressing underlying causes and, potentially, recombinant GH therapy.

    Achondroplasia

    • Common skeletal dysplasia, caused by FGFR3 gene mutation. It has variable inheritance patterns.
    • Characteristics include short stature, macrocephaly, prominent brow, midface retrusion, flattened nose, and spinal curvature abnormalities.
    • Average height for adults (males ~131cm, females ~124cm).
    • Treatment includes GH treatment.

    Osteogenesis Imperfecta

    • Genetic disorder causing type I collagen deficiency impacting bone formation.
    • Features include brittle bones, fractures from minimal trauma, blue sclerae, joint laxity, hearing loss, and opalescent teeth.
    • Treatment is supportive, focusing on managing fractures; IV bisphosphonates may be used.

    Turner Syndrome

    • Condition with complete absence of one X chromosome (45,X).
    • Features include short stature, ovarian failure, congenital heart defects (CoA), kidney anomalies (horseshoe kidney), webbed neck, broad chest, wide-set nipples, low-set ears, and neonatal lymphedema.

    Prader-Willi Syndrome

    • Microdeletion syndrome (15q11-13) resulting in hypotonia, feeding problems, dolichocephaly, small mouth, hypogonadism, short stature, hyperphagia, severe obesity, intellectual disability, and temperament issues.

    Chronic Glomerulonephritis

    • Chronic GN can have few symptoms initially, presenting as asymptomatic hematuria or proteinuria.
    • It may be preceded by acute nephritic syndrome. Causes could be primary (e.g., IgA nephropathy) or secondary (e.g., lupus nephritis).

    IgA Nephropathy (Berger Disease)

    • Most common primary GN. Frequently affects males. Etiology is unknown, but hypothesized to be related to circulating IgA antibody defects.
    • Highly variable course. Can involve asymptomatic stages, recurring episodes of gross hematuria with flank pain/fever following infections ("synpharyngitic hematuria"). Can lead to rapid progression to RPGN and/or nephrotic syndrome (~10%) and ESRD (~50%).
    • Diagnosis is based on clinical presentation, urinalysis (hematuria, proteinuria), serum IgA levels(sometimes elevated), and biopsy (mesangial proliferation, IgA deposits).
    • Differentiate from post-streptococcal GN (low complement levels, 10-20 days after infection), lupus nephritis, or MPGN.
    • Treatment includes monitoring, ACE inhibitors/ARBs, and, for severe cases, glucocorticoids plus immunosuppressants.

    Henoch-Schönlein Purpura (HSP)

    • Acute immune complex-mediated small vessel vasculitis, most common in children (~90% under 10 yrs).
    • Typically presented by a tetrad of symptoms: palpable purpura, arthritis/arthralgia, abdominal pain, and renal disease. Often preceded by an upper respiratory infection (1-3 weeks prior).
    • Diagnosis is based on clinical presentation, and laboratory tests (CBC, coagulation, serum antibodies, urinalysis). Biopsy is potentially required in complex cases, for confirmation and to assess severity of presentations (skin showing leukocytoclastic vasculitis with IgA and C3 deposits, kidney biopsy showing mesangial IgA and possible crescents).
    • Differentiate from other causes of purpura, arthritis, and renal involvement.
    • Treatment is typically supportive, with pain management and regular follow-up. Severe cases can require hospitalization and systemic glucocorticoids.

    Alport Syndrome

    • Genetic disorder caused by a defect in type IV collagen, primarily inherited as an X-linked recessive trait.
    • Often presents with asymptomatic hematuria in infancy.
    • Characterized by progressive glomerulonephritis, leading to ESRD (typically in adolescence-early adulthood), sensorineural hearing loss, and sometimes eye abnormalities (lenticonus).
    • Diagnosis involves urinalysis, molecular genetic testing, and potentially renal biopsy (LM/EM showing "basket-weave" appearance).
    • Treatment involves monitoring renal function, and potentially ACE inhibition, hearing aids, and surgical corrections (if needed).

    Antibiotic Therapy in Children

    • Empiric vs. targeted therapy.
    • Prophylactic therapy is used to prevent infections in immunosuppressed patients, before/after surgery, or in post-exposure situations.
    • Empiric therapy is used for life-threatening or severe infections, before the causative organism is known. Specific empirical therapy suggestions based on suspected site and potential pathogens. Factors influencing antibiotic choice include the suspected infection site (upper vs. lower respiratory tract and other considerations), host factors (immunosuppression, geographical location, and pre-existing conditions), and drug factors (resistance, side effects).
    • Contraindications/specific considerations in pediatric antibiotic use exist for various types of antibiotics (e.g., aminoglycosides).

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    Test your knowledge on the various phases of human growth, including the infantile phase, intrauterine hormone influences, and the significance of growth velocity and growth plates. This quiz covers key indicators of health and the factors that determine normal height in children.

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