Paediatric Genital Abnormalities

Androgenised female 

Congenital adrenal hyperplasia

Congenital Adrenal Hyperplasia redirects cholesterol metabolism into the production of testosterone, leading to the androgenisation of female infants.

There are a variety of forms, with variable deficiencies of mineralocarticoids and excesses of androgens.
Some cause early death from electrolyte disturbance.
It is harder to detect males as they have less genital abnormality.

​The symptoms of CAH vary depending upon the form of CAH and the gender of the patient.
Symptoms can include:

Due to inadequate mineralocorticoids:

  • vomiting due to salt-wasting leading to dehydration and death


Due to excess androgens:

  • functional and average sized penis in cases involving extreme virilization (but no sperm)

  • ambiguous genitalia, in some females, such that it can be initially difficult to determine sex

  • early pubic hair and rapid growth in childhood

  • precocious puberty or failure of puberty to occur (sexual infantilism: absent or delayed puberty)

  • excessive facial hair, virilization, and/or menstrual irregularity in adolescence

  • infertility due to anovulation

  • enlarged clitoris and shallow vagina


Richard D. McAnulty, M. Michele Burnette (2006) Sex and sexuality, Volume 1, Greenwood Publishing Group, p.165
Surgical management of CAH now is aimed at preservation of as much tissue as possible and doing a minimal procedure. The aim is to be left with a functional vagina with cosmetic outcome, leaving the clitoris for sexual sensation.

This girl has labial fusion and clitoral hypertophy