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. Late symptoms include virilization and infertility.
History and Symptoms
Symptoms of 21-hydroxylase deficient congenital adrenal hyperplasia include:
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, which 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, and well-developed muscles)
- Infertility