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Nonclassic congenital adrenal hyperplasia
1Division of Pediatric Endocrinology, Childrens Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania 15224, USA. selma.witchel@chp.edu
Current Opinion in Endocrinology, Diabetes, and Obesity
|April 14, 2012
Summary
Late-onset congenital adrenal hyperplasia (NCAH) is a common genetic disorder causing androgen excess. Management focuses on individualized symptom treatment for optimal growth, puberty, and fertility, not just hormone levels.
Area of Science:
- Endocrinology
- Genetics
- Reproductive Medicine
Background:
- Late-onset or nonclassic congenital adrenal hyperplasia (NCAH) is a prevalent autosomal recessive disorder.
- It is caused by 21-hydroxylase deficiency and typically presents with signs of androgen excess.
Purpose of the Study:
- To review current knowledge on the pathophysiology, molecular genetics, and management of NCAH.
- To provide updated information on this common endocrine disorder.
Main Methods:
- Literature review of recent studies on NCAH.
- Synthesis of information on genetic defects, clinical presentation, and therapeutic strategies.
Main Results:
- Subfertility and consequences of elevated progesterone are increasingly noted in women with NCAH.
- Oligospermia and testicular adrenal rest tumors (TARTs) occur in men with NCAH.
- The phenotypic spectrum of related steroidogenic pathway defects has broadened.
Conclusions:
- Treatment for NCAH should be individualized and symptom-directed.
- Therapeutic goals include normal growth, timely puberty, regular menses, controlled hirsutism/acne, and fertility.
- Treatment should not solely aim to normalize hormone levels.
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