Conditions and diseases that cause ambiguous sex or difficulty of determination of sex.
5-Alpha-reductase deficiency is an autosomal recessive intersex condition affecting XY individuals who are born with male gonads, including testicles and Wolffian structures, sometimes with obvious undervirilisation, but usually appear to have female primary sex characteristics.
Androgen insensitivity syndrome (AIS), also referred to as androgen resistance syndrome, is a set of disorders of sex development caused by mutations of the gene encoding the androgen receptor. The set of resulting disorders varies according to the structure and sensitivity of the abnormal receptor. Most forms of AIS involve a variable degree of undervirilization and/or infertility in people genetically XY.
An inherited condition that affects the adrenal glands. These glands are located on top of the kidneys and produce three types of hormones called cortisol, aldosterone and androgens. Females with classical CAH are born with masculine appearing external genitals but with female internal sex organs. Males with classical CAH appear normal at birth. Males and females with classical CAH are likely to have trouble retaining salt, a condition that can be life threatening.
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