A 16-year-old boy has delayed puberty; he doesn’t develop secondary sexual characteristics; he has a normal stature according to his chronological age. Examination reveals an upper-to-lower segment ratio of 0.8 (normal ratio is more than 0.9). Of the following, the MOST important test to confirm diagnosis is

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Question 1 of 5

A 16-year-old boy has delayed puberty; he doesn’t develop secondary sexual characteristics; he has a normal stature according to his chronological age. Examination reveals an upper-to-lower segment ratio of 0.8 (normal ratio is more than 0.9). Of the following, the MOST important test to confirm diagnosis is

Correct Answer: A

Rationale: Delayed puberty with eunuchoid proportions (low upper-to-lower ratio) suggests hypogonadism; gonadotropin levels distinguish primary (high) from secondary (low) causes, guiding further evaluation. Other tests (B, C, D, E) are less immediately diagnostic.

Question 2 of 5

A 6-year-old boy develops precocious puberty; he has acne, pubic and axillary hair, and penile enlargement with normal testicular size. His blood pressure is elevated. Lab test reveals hypokalemia, and elevated level of deoxycorticosterone. MRI of the brain is normal. Of the following, the MOST likely enzyme deficiency for this boy is

Correct Answer: A

Rationale: 11-hydroxylase deficiency causes precocious puberty, hypertension, hypokalemia, and elevated deoxycorticosterone, matching this case. 21-hydroxylase (E) typically causes virilization without hypertension, and others (B, C, D) don’t fit.

Question 3 of 5

The major cause of the acute scrotum in boys less than 6 years of age is

Correct Answer: A

Rationale: The major cause of the acute scrotum in boys less than 6 years is torsion of the testis, a surgical emergency requiring prompt intervention.

Question 4 of 5

Clinical laboratory testing can define the metabolic derangement. Vacuolated lymphocytes and metachromatic granules are seen in

Correct Answer: A

Rationale: Vacuolated lymphocytes and metachromatic granules are hallmarks of lysosomal storage disorders (e.g., mucopolysaccharidoses) due to undegraded substrates. Organic acidurias (B), NKH (C), PCD (D), and IVA (E) show different biochemical markers.

Question 5 of 5

Phenylketonuria (PKU) is characterized by all the following EXCEPT

Correct Answer: C

Rationale: PKU is autosomal recessive (A), brain-affecting (B), normal at birth (D), and causes retardation if untreated (E), but its incidence is ~1 in 10,000-15,000, not 1 in 1,000, making C incorrect.

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