CONGENITAL ADRENAL HYPERPLASIA MANIFESTING WITH AMBIGUOUS GENITALIA

Abstract

CASE
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases caused by a deficiency of the enzymes responsible for steroidogenesis. The prevalence of the classical form is 1 in 14,000-18,000 births worldwide, while the non-classical form has a prevalence of 1 person per 200 in the US. We report a 28-year-old Indonesian female with complaints of genital growth abnormalities, an incomplete vagina, and a small penis from birth. The patient carries out activities like a man and the penis can still be erect. Chromosomal analysis revealed intersex 46XX. Laboratory results were as follows: FSH 0.424 mIU/mL, LH <0.300 mIU/mL, estradiol (E2) 39 pg/mL, testosterone 6.01 ng/mL, cortisol 2.00 µg/dL, DHEA 1379.50 µg/dL and 17-OHP 258.05 ng/ mL. Abdominal ultrasound showed uterine echostructure in the retrovesica. Abdominal MSCT showed bilateral enlargement of the adrenal glands and a visible uterine structure in the pelvic cavity. The patient was diagnosed with CAH with ambiguous genitalia. The patient was treated with 20 mg oral hydrocortisone once daily and was advised to undergo adrenalectomy and genital reconstruction.