Fausto-Sterling - Sexing the Body

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TABLE 3.1 Some Common Types of Intersexuality
NAME CAUSE BASIC CLINICAL FEATURES
Congenital Genetically inherited In XX children, can cause mild to se-
Adrenal malfunction of one or vere masculinization of genitalia at
Hyperplasia more of six enzymes in- birth or later; if untreated, can cause
(CAH) volved in making steroid masculinization at puberty and early puhormones
berty. Some forms drastically disrupt
salt metabolism and are life-threatening
if not treated with cortisone.
Androgen Genetically inherited XY children born with highly femi-
Insensitivity change in the cell surface nized genitalia. The body is ‘‘blind’’ to
Syndrome receptor for testosterone the presence of testosterone, since cells
(AIS)
cannot capture it and use it to move development
in a male direction. At puberty
these children develop breasts
and a feminine body shape.
Gonadal Various causes, not all Refers to individuals (mostly XY)
Dysgenesis genetic; a catch-all whose gonads do not develop properly.
category
Clinical features are heterogeneous.
Hypospadias Various causes, including The urethra does not run to the tip of
alterations in testoster- the penis. In mild forms, the opening is
one metabolism a just shy of the tip; in moderate forms,
it is along the shaft; and in severe
forms, it may open at the base of the
penis.
Turner Females lacking a second A form of gonadal dysgenesis in fe-
Syndrome X chromosome. (XO) b males. Ovaries do not develop; stature
is short; lack of secondary sex characteristics;
treatment includes estrogen
and growth hormone.
Klinefelter Males with an extra X A form of gonadal dysgenesis causing
Syndrome chromosome (XXY) c infertility; after puberty there is often
breast enlargement; treatments include
testosterone therapy.
a. Aaronson et al. 1997.
b. The story is, of course, more complicated. For some recent studies, see Jacobs, Dalton, et al.
1997; Boman et al. 1998.
c. There are a great many chromosomal variations classified as Klinefelter (Conte and Grumbach
1989).