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J Endocrinol Invest. 2001 Oct;24(9):681-91.

Congenital adrenal hyperplasia: transition from chil dhood to adulthood.

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  • 1Division of Pediatric Endocrinology, North Shore-Long Island Jewish Health System, New York, USA. speiser@nshs.edu


Congenital adrenal hyperplasia (CAH) is a group of disorders caused by inborn errors of steroid metabolism. The most common form owing to 21-hydroxylase deficiency (CAH-21OHD) is present in about 1:10,000- 1:15,000 live births worldwide. In its classic salt-wasting form (-66-75% of cases) patients may suffer potentially lethal adrenal insufficiency. Non-salt-wasting forms of CAH-21 OHD are recognized by genital ambiguity in affected females, and by signs of androgen excess in later childhood in males. Non-classic CAH-21 OHD may be detected in up to 1-3% of certain populations, and is often mistaken for idiopathic precocious pubarche in children or polycystic ovary syndrome in young women. This chapter will address issues relating to transition of CAH care from the pediatric to the adult endocrinologist.

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