If the affected child is a genetic female, she too will be a carrier.

This condition has several forms, but the most common form causes the genetic female to appear male.

Virilization of genetic females is partial, often mild, and rarely raises assignment questions.

Most genetic females with both forms of the deficiency will need replacement estrogen to induce puberty.

Despite autosomal inheritance, there has been an unexplained preponderance of genetic females in reported cases.

A genetic female conceived in such a way would receive her father's X chromosome, and would thus become a carrier.

A few milder forms of this deficiency in genetic females have allowed relatively normal breast development and irregular menstruation.

Usually, ambiguous genitalia in genetic females (babies with two X chromosomes) has the following features:

A baby who inherits the X chromosome from the father is a genetic female (two X chromosomes).

The exception are the rare, completely virilized genetic females (Prader stage 5), who present the most challenging assignment and surgery dilemmas, discussed below.

Masculinizing surgery for completely virilized genetic females with CAH is even rarer.

The added challenge for the most severely affected genetic females, and for genetic males who are being raised as females, is construction of a neovagina.

These include "berdaches" (a derogatory term for genetic males who assumed a feminine role) and "passing women" (genetic females who took on a masculine role).

Prenatal virilization of genetic females and undervirilization of genetic males are common causes of ambiguous genitalia and intersex conditions.

Genetic females (46,XX karyotype) have two X chromosomes, and thus have two AR genes.

Thus, common symptoms include mild hypocortisolism, ambiguous genitalia in genetic males or failure of the ovaries to function at puberty in genetic females, and hypertension (respectively).

Genetic females (with two X chromosomes) with congenital adrenal hyperplasia lack an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone.

Girls and women with CAH constitute the majority of genetic females with normal internal reproductive hormones who have been exposed to male levels of testosterone throughout their prenatal lives.

Cloacal exstrophy in a genetic female usually requires major surgical reconstruction of the entire perineum, including bladder, clitoris, symphysis pubis, and both the vaginal introitus and urethra.

Namely in genetic females presenting with ovarian cysts, GnRH analogues may be used to control high FSH and LH levels if they are unresponsive to estrogens.

The presence of a uterus by pelvic ultrasound suggests either persistent müllerian duct syndrome (AMH deficiency or insensitivity) or a severely virilized genetic female with congenital adrenal hyperplasia.

A genetic female with mutations in both AR genes could theoretically result from the union of a fertile man with androgen insensitivity and a female carrier of the gene, or from de novo mutation.