Severe Hyperandrogenism in 46,XX Congenital Adrenal Hyperplasia: Molecular Physiopathology, Late Diagnoses, and Personalized Management.

Abstract excerpt

Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive endocrine disorders characterized by alteration in adrenal hormonal secretions. The most common form is caused by CYP21A2 mutations that result in 21-hydroxylase deficiency. Clinical features can vary, from salt-wasting forms, characterized by a lack of mineralocorticoid activity with a risk of perinatal-onset adrenal crises, to...

Topics

• Humans
• Adrenal Hyperplasia, Congenital
• Hyperandrogenism
• Female
• Steroid 21-Hydroxylase
• Mutation
• Precision Medicine
• Male
• Pregnancy