A 14-year-old boy is concerned about his lack of pubertal development. He has no testicular enlargement (testicular volume 2 mL), no pubic hair, short stature, and has never experienced voice changes. His bone age is delayed at 11 years. Serum LH, FSH, and testosterone are all low. He is otherwise healthy with a normal sense of smell. The MOST likely diagnosis is:
- A Kallmann syndrome
- B Constitutional delay of growth and puberty (CDGP) ✓
- C Primary hypogonadism (Klinefelter syndrome)
- D Growth hormone deficiency
Explanation
Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty in boys. It is characterized by delayed onset of pubertal milestones, low gonadotropins (relative hypogonadotropism), delayed bone age, family history of late puberty, and normal sense of smell. It is a diagnosis of exclusion — Kallmann syndrome is ruled out because smell is intact. In CDGP, spontaneous puberty eventually occurs and no treatment is mandatory, though low-dose testosterone may be given for reassurance.
Reference: Ghai Essential Pediatrics, 10th ed.
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Written and medically reviewed by the StethoPrep medical team.