A 26-Month-Old With Clitoromegaly

Abstract

A 26-month-old girl was referred to pediatric endocrinology with rapid growth, clitoromegaly, and abnormal laboratory findings. She was born at term with a birth weight of 3.568 kg and was discharged home at 2 days of life. Her newborn screen was normal and there was no history of consanguinity. At 6 months of age, she was referred to pediatric urology for "labial adhesions." However, her physical examination revealed complete posterior labial fusion, a prominent clitoris, and a urogenital sinus. Evaluation at that time revealed a 46, XX karyotype. The 17-hydroxyprogesterone (17OHP) level was 285 ng/dL and the testosterone level was 35 ng/dL. Normal values of 17OHP and testosterone in a child of her age are <147 ng/dL and <76 dL, respectively. The case was discussed independently with two pediatric endocrinologists, both of whom stated that her biochemical profile did not indicate congenital adrenal hyperplasia (CAH) and that an endocrine referral was not needed. Therefore, it was deduced that her physical findings were isolated congenital anomalies and that no further evaluation was needed.