A 15-year-old girl presents with primary amenorrhea. She has normal breast development (Tanner V) and normal pubic hair (Tanner IV). Pelvic ultrasound shows a normal uterus and ovaries. FSH is 55 IU/L, LH is 32 IU/L, and estradiol is low. Karyotype is 46,XX. What is the most likely diagnosis?

• A Turner syndrome
• B Müllerian agenesis
• C Primary ovarian insufficiency ✓
• D Hypothalamic amenorrhea

Explanation

Primary ovarian insufficiency (POI) presents with hypergonadotropic hypogonadism (FSH >25-40 IU/L, low estradiol) in a 46,XX individual with normal external genitalia and uterus. Turner syndrome has a 45,X karyotype with short stature. Müllerian agenesis shows normal ovarian function with absent uterus and normal FSH. Hypothalamic amenorrhea features low or normal FSH and LH with low estrogen. The 46,XX karyotype with elevated FSH confirms POI.

Reference: Williams Textbook of Endocrinology, 14th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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