A 17-year-old boy presents with absent pubertal development. Vital signs show BP 110/70 mmHg, HR 82/min, RR 16/min, temperature 37°C. He has sparse facial hair, small testes (8 mL bilaterally), and anosmia since childhood. Labs reveal low testosterone (85 ng/dL) and low-normal LH/FSH levels. MRI of the sella turcica shows no sellar mass. He denies recent weight loss or visual changes. Which of the following is the most likely diagnosis?

  1. A)Turner syndrome
  2. B)Klinefelter syndrome
  3. C)5 alpha reductase deficiency
  4. D)Androgen insensitivity syndrome
  5. E)Kallmann syndromeGABARITO

Explicação

Kallmann syndrome is caused by failed migration of GnRH secreting neurons and olfactory bulbs, leading to hypogonadotropic hypogonadism and anosmia. Delayed puberty with low LH and FSH is typical. The anosmia is the classic clue that separates it from other ca... Ver explicação completa e trilha adaptativa →

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