Medical issues in CAH

There are several medical problems that occur with Classic Congenital Adrenal Hyperplasia that will need to managed into adulthood. 


Ambiguous genitalia — Female infants with classic 21-hydroxylase deficiency are born with ambiguous genitalia. Female newborns have clitoral enlargement. Affected males are normal appearing at birth, but may have subtle findings such as hyperpigmentation of the scrotum or an enlarged phallus.


Growth — Children with CAH are at risk for early puberty and adult short stature. (high levels of sex hormones induces early puberty and premature epiphyseal closure. Excess glucocorticoid exposure secondary to treatment. Mean adult height of patients with classic CAH was 1.4 standard deviations (10 cm) below the population mean


Male reproduction — Most men with 21-hydroxylase deficiency are fertile as adults, but others have evidence of Leydig cell failure or impaired spermatogenesis. Testicular adrenal rest masses are composed of adrenal tissue usually diagnosed between the ages of 10 and 20 years, but may be found as early as age five, may lead to obstruction of seminiferous tubules, gonadal dysfunction, and infertility, some regress during glucocorticoid therapy. “Adrenal rest tumor” are not neoplasms because these cells are hyperplastic and do not show increased proliferation: expand after chronic ACTH stimulation, just like the adrenal cortex itself. As a result of this expansion, the testis suffers from compression, functional impairment, and eventually fibrosis

Female reproduction — Fertility rates in women with classic forms of 21-hydroxylase deficiency are low. Adrenal rest tumors in the ovary are rare

Related pages: CAH overview, Types of CAH,

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