Abstract Primary amenorrhea (PA) in a young girl can result from structural, functional, or hormonal disorders. Accurate diagnosis is essential for counseling on hormone replacement and fertility. Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by an absent or hypoplastic uterus and presents with PA. Congenital adrenal hyperplasia (CAH) is a steroidogenic defect that may present at any age but rarely as PA. We report a 33-year-old woman who initially presented at age 17 with PA and was labeled as having MRKH syndrome due to a hypoplastic uterus. She was treated by multiple dermatologists for resistant acne between ages 20 and 32. During evaluation of hyperandrogenism, her computed tomography scan of the abdomen revealed a right adrenal mass, prompting an endocrine referral. Our evaluation showed virilization, clitoromegaly, and a hormonal profile suggestive of simple virilizing CAH. Gene sequencing showed a homozygous missense variation in exon 4 of the CYP21A2 gene (chr6:g.32007203TA) (c.518TA) (p.Ile173Asn), confirming CAH. She was managed with glucocorticoids, antiandrogens, and estrogen supplements. She had menarche 6 months after therapy at age 33. We report this case to highlight the importance of detailed endocrine evaluation in patients with PA.
Alekya et al. (Tue,) studied this question.