Article
Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Jan 2019
Zacharieva Sabina, Robeva Ralitsa, Andonova Silvia, Vazharova Radoslava, Balabanski Lubomir, Atanasoska Maya, Toncheva Draga, Elenkova Atanaska, Savov Alexey
Abstract excerpt
11β-Hydroxylase deficiency is the second most common enzyme disorder after 21-hydroxylase deficiency causing congenital adrenal hyperplasia (CAH11β). In females, the clinical phenotype of CAH11β classic forms is associated with ambiguous genitalia, virilization and hypertension, while most common complaints in milder non-classic forms include hirsutism, acne, menstrual disturbances, and infertility. Herein, we...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.