Dear Editor,17ɑ‐hydroxylase deficiency (17OHD) is a rare variant of congenital adrenal hyperplasia (CAH) due to mutations in the CYP17A1 gene. This gene encodes an enzyme that expresses both 17α‐hydroxylase and 17,20‐lyase activities affecting both adrenal and gonadal sex steroid production. Due to the location of the enzyme in the steroidogenic pathway, impairment results in elevated corticosterone, deoxycorticosterone and progesterone together with low levels of cortisol, 11‐deoxycortisol, dehydroepiandrosterone sulphate (DHEAS) and 17‐hydroxyprogesterone. The increased deoxycorticosterone level causes sodium retention, hypertension and hypokalaemia. Adrenal crisis does not normally occur as corticosterone has glucocorticoid activity, but cortisol levels are low or absent (Figure ). The typical presentation is in a younger adult with hypertension, hypokalemia and lack of sexual development (incompletely masculinized genitals in 46XY or primary amenorrhea in 46XX) with hypergonadotropic hypogonadism. Patients with 17OHD are considered infertile. Assisted reproductive techniques have been tried in the women but mostly without any success. However, there is one report of a 33‐year‐old woman with 17OHD and in vitro fertilized (IVF)‐donated oocytes resulting in a live birth, and another successful live birth in a 26‐year‐old woman with IVF using her own oocytes. Another successful case with IVF with her own oocytes is here presented, but
Clinical Endocrinology – Wiley
Published: Jan 1, 2018
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