A 15-year-old girl presents with primary amenorrhea and absent breast development. Height is 143 cm, well below her mid-parental target. Examination shows widely spaced nipples, cubitus valgus, and a low posterior hairline. External genitalia are infantile with a small uterus on ultrasound. Serum FSH is 68 IU/L and estradiol is undetectable. What is the most likely diagnosis?
- A Turner syndrome with streak gonads ✓
- B Complete androgen insensitivity syndrome
- C Constitutional delay of puberty
- D 46,XY pure gonadal dysgenesis (Swyer syndrome)
Correct answer: A. Turner syndrome with streak gonads
Explanation
Hypergonadotropic hypogonadism (FSH 68 IU/L) with short stature and somatic stigmata such as cubitus valgus, wide-set nipples, and low hairline indicates Turner syndrome with streak ovaries. Constitutional delay would show prepubertal but otherwise normal stature proportionate to bone age and normal gonadotropins. Swyer syndrome has female internal genitalia with a normal height pattern, and androgen insensitivity presents with normal breast development and absent pubic hair, not absent breasts.
Reference: Williams Gynecology, 4th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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