ESPE Abstracts

NCCAH is considered the most common autosomal recessive endocrine disorder, with a carrier frequency of 1: 7 to 1: 25. The disorder is caused by mild mutations in the CYP21A2 gene retaining enzymatic activity of 20-50%. The genotype may be either mild/mild or mild/severe mutations. The partial enzymatic deficiency leads to increased production of adrenal androgens. The patients present with different degrees of postnatal virilization: precocious pubarche during childh...

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