21-hydroxylase deficiency history and symptoms

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2] Ahmad Al Maradni, M.D. [3]

Overview

Symptoms of 21-hydroxylase deficient congenital adrenal hyperplasia include dehydration, vomiting and weight loss, symptoms occur later may include virilization and infertility.

History and Symptoms

Symptoms of adrenal hyperplasia in infants:

In this form of congenital adrenal hyperplasia, newborns develop severe symptoms shortly after birth due to loss of salt, such symptoms include:

• Dehydration
• Weight loss
• Vomiting

Symptoms of adrenal hyperplasia in children and adults:

• Irregular or absent menstruation in girls
• Ambiguous genitalia or virilizing characteristics in girls, often appearing more male than female: Deep voice, early appearance of pubic and armpit hair, excessive hair growth and facial hair
• Early appearance of masculine characteristics in boys: Deep voice, early appearance of pubic and armpit hair, enlarged penis, small testes, well-developed muscles
• Infertility