My daughter has Adreno-genital syndrome. Kindly help.

Question

Hello doctor,

My 10 years old daughter has a non-classical type of adreno-genital syndrome. She has progressive hirsutism for the last two months. She is not on any medication. She has normal cortisol levels but elevated ACTH, double values testosterone, and elevated DHEA and progesterone value is 19 ng/mL. She had an early puberty. At 9 years she got her first period, which lasted six months. Kindly help.

Answer 1

Hello,

Welcome to icliniq.com.

Non-classic 21-OHD CAH (21- Hydroxylase-Deficient Congenital Adrenal Hyperplasia) is diagnosed with pedigree charting, 60-minute ACTH stimulation test, and 17-hydroxyprogesterone (17-OHP). The symptoms are androgen excess, including acne, premature development of pubic hair, accelerated growth, advanced bone age, and reduced adult stature. If your daughter is born with normal genitalia, she will have hirsutism, frontal baldness, delayed menarche, menstrual irregularities, and infertility. She may not require lifelong treatment. Kindly check if the molecular testing is done (both single gene and multiple gene panels).

Kindly review her reports to help you better.

Thanks.