|
Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults. ==Signs and symptoms== The symptoms of CAH vary depending upon the form of CAH and the sex of the patient. Symptoms can include: Due to inadequate mineralocorticoids: * vomiting due to salt-wasting leading to dehydration and death Due to excess androgens: * functional and average sized penis in cases involving extreme virilization (but no sperm) * ambiguous genitalia, in some females, such that it can be initially difficult to identify external genitalia as "male" or "female". * early pubic hair and rapid growth in childhood * precocious puberty or failure of puberty to occur (sexual infantilism: absent or delayed puberty) * excessive facial hair, virilization, and/or menstrual irregularity in adolescence * infertility due to anovulation * enlarged clitoris and shallow vagina〔Richard D. McAnulty, M. Michele Burnette (2006) ''(Sex and sexuality, Volume 1 )'', Greenwood Publishing Group, p.165〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「congenital adrenal hyperplasia」の詳細全文を読む スポンサード リンク
|