21-hydroxylase deficiency history and symptoms
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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:
Symptoms of adrenal hyperplasia in children and adults
Symptoms of adrenal hyperplasia in children and adults may include:
- Metrorrhagia and amenorrhea in girls
- Ambiguous genitalia or virilizing genitalia in girls (often appearing more male than female: Deep voice, early appearance of pubic and armpit hair, and excessive hair growth and facial hair)
- Early appearance of masculinization characteristics in boys (Deep voice, early appearance of pubic and armpit hair, enlarged penis, small testes, well-developed muscles)
- Infertility