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female pseudohermaphroditism

Thursday 11 January 2007

The causes of female pseudohermaphroditism (46,XX DSD) include congenital adrenal hyperplasia (CAH) and transplacental androgen exposure.

Congenital adrenal hyperplasia (CAH)

The congenital adrenal hyperplasia (CAH) is the most common cause of ambiguous genitalia. It manifests as various degrees of virilization in girls and as precocious puberty in boys. Most cases are secondary to 21-hydroxylase deficiency. An elevated 17-hydroxy-progesterone level indicates the diagnosis of CAH.

Adrenal glands with a limb over 20 mm long and 4 mm wide and with normal corticomedullary differentiation are suggestive of CAH.

Some authors believe that it is not just the size of the gland but a combination of its size, echogenicity, and surface contour that helps make the diagnosis of CAH.

Al-Alwan et al found that a combination of a limb width greater than 4 mm, a lobulated surface, and stippled echogenicity had a sensitivity of 92% and a specificity of 100% in making the diagnosis.

The presence of normal-sized adrenal glands does not exclude the diagnosis of CAH, and a cerebriform appearance of the adrenal glands is reportedly specific for CAH.

A normal uterus and ovaries are seen at US in female pseudohermaphroditism. Some boys with CAH may present with intratesticular nodularity (hyperplasia of Leydig cells).

Etiology (Examples)

- caudal regression syndrome (caudal dysgenesis syndrome)
- idiopathic female pseudohermaphroditism

Synopsis

- ambiguous genitalia
- non-palpable testes
- bifid scrotum
- phallus-like structures
- clitoral hypertrophy
- accessory phallic urethra

Associations

- urethral atresia
- urogenital anomalies
- urinary tract obstruction and hydronephrosis
- colonic anomalies
- lumbosacral anomalies
- bilateral streak ovaries
- Mullerian tract anomalies
- vaginal urethra

See also

- XX intersex
- genito-urinary anomalies
- pseudohermaphrodisms