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]

History and Symptoms

Signs and symptoms 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

Signs and symptoms of adrenal hyperplasia in children and adults:

Girls will usually have normal internal female reproductive organs as normal girls. But some of their external appearance may change. Boys won't have any obvious problems at birth. However, they may have 2~3 years early virilizing characteristics than normal boys.

• 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