A 16-year-old male has a tall stature but no facial, axillary, or pubic hair. His penis and scrotum are obscured by pubic adipose tissue, but they appear infantile. Chromosome analysis reveals XY karyotype. His serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels are elevated. The most likely diagnosis is

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Pediatric Endocrine System Questions

Question 1 of 5

A 16-year-old male has a tall stature but no facial, axillary, or pubic hair. His penis and scrotum are obscured by pubic adipose tissue, but they appear infantile. Chromosome analysis reveals XY karyotype. His serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels are elevated. The most likely diagnosis is

Correct Answer: B

Rationale: Elevated FSH/LH with underdeveloped gonads and XY karyotype indicate primary hypogonadism (e.g., Klinefelter-like, though not specified as XXY here).

Question 2 of 5

Hall Pallister syndrome includes all of the following EXCEPT

Correct Answer: D

Rationale: Maternal DES exposure is not linked to Hall-Pallister syndrome, a genetic condition with pituitary and limb anomalies.

Question 3 of 5

Sotos syndrome is characterized by all of the following EXCEPT

Correct Answer: D

Rationale: Sotos syndrome often includes intellectual disability, not normal intelligence.

Question 4 of 5

All of the characteristics of congenital hypothyroidism are true EXCEPT

Correct Answer: D

Rationale: Thyroid peroxidase antibodies are not central to congenital hypothyroidism (e.g., dysgenesis); they’re more relevant in acquired autoimmune cases.

Question 5 of 5

The initial treatment of choice for Graves disease is

Correct Answer: D

Rationale: Propylthiouracil (PTU) is a first-line antithyroid drug for Graves disease in children, controlling hyperthyroidism.

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