A female was born in 1990 to a couple of cousins. She was their first child out of four children (three females and one male).
At the age of 4 years, she was diagnosed with SV-CAH owing to the appearance of hirsutism in the genital areas, slight enlargement in the clitoris, and the detection of high levels of 17-OHP (Table ). She got menarche at 14 years old, but a menstrual disorder appeared later. She had compound heterozygous of I2G and R356W mutations [10]. She underwent treatment with hydrocortisone (20 mg/day) and was followed-up by an endocrinologist for the treatment of her menstrual disorder. She got married in 2014 and had twin daughters.
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