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Difficulty: EasyPediatric Endocrine Disorders

Match the following pediatric endocrine conditions to their most characteristic clinical or laboratory presentation.

  • 21-hydroxylase deficiencyElevated 17-hydroxyprogesterone and ambiguous genitalia in newborn females
  • Central precocious pubertyAdvanced bone age and pubertal levels of basal or GnRH-stimulated luteinizing hormone
  • Constitutional delay of growth and pubertyDelayed bone age equal to height age with a normal growth velocity for bone age
  • Hashimoto thyroiditisElevated thyroid-stimulating hormone (TSH) and positive anti-thyroid peroxidase antibodies

Answer

The correct matches are: 21-hydroxylase deficiency with elevated 17-hydroxyprogesterone; Central precocious puberty with advanced bone age and pubertal LH; Constitutional delay with delayed bone age; and Hashimoto thyroiditis with elevated TSH and anti-TPO antibodies.
Each listed condition has a highly specific diagnostic presentation. 21-hydroxylase deficiency is confirmed by elevated 17-hydroxyprogesterone. Central precocious puberty requires evidence of hypothalamic-pituitary activation via elevated LH. Constitutional delay is recognized by a delayed bone age without other pathology. Hashimoto thyroiditis is defined by autoimmune primary hypothyroidism with elevated TSH and anti-TPO antibodies.

Step-by-Step Solution

1
Analyze the characteristic presentation of 21-hydroxylase deficiency.
Identified as the classic cause of congenital adrenal hyperplasia, presenting with elevated 17-hydroxyprogesterone.
To correctly map the enzymatic defect to its biochemical marker.
2
Evaluate the clinical features of central precocious puberty.
Identified as true puberty occurring early, driven by gonadotropins (LH).
To distinguish central (gonadotropin-dependent) from peripheral causes.
3
Determine the diagnostic hallmark of constitutional delay of growth and puberty.
Identified that bone age is delayed and correlates with height age.
To differentiate from pathologic causes of short stature or delayed puberty.
4
Identify the primary markers for Hashimoto thyroiditis.
Matched with elevated TSH and positive anti-thyroid peroxidase antibodies.
To confirm the autoimmune etiology of primary hypothyroidism.

Key Concept

Diagnosis of common pediatric endocrine disorders relies on identifying specific hormonal and radiologic patterns, such as characteristic hormone accumulations, gonadotropin levels, and bone age assessments.
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Pediatric Endocrine Disorders

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