Congenital Adrenal Hyperplasia (CAH) (also referred to as Adrenogenital Syndrome [AGS]) is one of a number of so-called intersex conditions in which the individual can show anatomical characteristics of both sexes. This chapter draws on available research, illustrated by personal and support group experiences, to consider the issues arising from moving through adolescence to adulthood while living with conditions that have the potential to be shrouded in secrecy and stigma. Many of the experiences contained here are equally applicable to those living with other intersex and associated conditions such as Androgen Insensitivity Syndrome (AIS),1 Swyer’s Syndrome,2 true hermaphroditism (see below), Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH),3and vaginal hypoplasia,4 though CAH is one of the only intersex conditions that is life-threatening.
CAH is a rare (1:10,000) life-threatening autosomal recessive genetic condition. It affects the adrenal glands’ production of cortisol and salt-retaining hormones and can result in a life-threatening adrenal crisis. The block in the production of cortisol and the enzyme 21 Hydroxylase or 11 Beta, and the resulting excess production of androgens (sex hormones), often causes virilization of females or, in a very rare number of cases such as with StAR CAH, feminization of males. At birth, the female’s external genitals can appear to be male, for example showing cliteromegaly (enlarged clitoris), fused labia and a mispositioned vaginal opening often fused with the urethra (pseudohermaphroditism). The fused labia and enlarged clitoris can resemble a small scrotum and penis or, more ambiguously, appear neither male nor female. CAH is therefore a phenotypical intersex condition in that the external genitalia appear to be male yet internal reproductive organs are functionally female and chromosomes XX or vice versa for males with, for example, StAR CAH. True hermaphroditism is where both ovarian and testicular cells are present. Intersex conditions have been reported to affect 2 per cent of the world’s population or 1 in 50 families.
There are several different types of CAH, ranging from salt-wasting, non-salt-wasting and simple virilizing types (which require steroid replacement), to milder late onset non-virilizing CAH (which sometimes does not). Cortisol and salt-retaining hormones must be replaced with lifelong steroid treatment; such treatment only being possible since the mid-1950s and only achieving better standards of success more recently. CAH is more difficult to detect in males as there are often no visible outward effects. Failure to thrive can be one of the indicators and, in the past, boys tended to die in early infancy. However, males typically have milder symptoms, mainly height and weight related as a result of steroid treatment.