Q52.9/ Q55.9
DESCRIPTION
The current terminology for neonates or children presenting with incomplete differentiation of the external genitalia is “disorder of sexual development”.
DIAGNOSTIC CRITERIA
Clinical
- DSDs present with one or more of the following:
- varying degrees of hypospadias, sometimes with chordee
- maldescent of one or both gonads,
- atypical size of the phallus,
- scrotalisation of labia.
- urogenital sinus
- Isolated hypospadias is not DSD.
- Suspect congenital adrenal hyperplasia in an infant with non-palpable gonads and DSD.
Investigations
- Urgent urea/electrolytes, venous blood gas and blood glucose to identify possible adrenal insufficiency in suggestive DSD cases (see above).
- Elevated 17-hydroxyprogesterone level to confirm diagnosis of adrenal hyperplasia. (To be done after day 3 of life with maternal extraction for an accurate interpretation of the result).
- Further investigations done in the referral centre.
GENERAL AND SUPPORTIVE MEASURES
- Gender assignment in these infants should only be undertaken after extensive counselling and evaluation by a multidisciplinary team.
- Stabilise all neonates suspected of having congenital adrenal hyperplasia with a salt-losing crisis (see below), prior to urgent referral, as a crisis may be life threatening.
MEDICINE TREATMENT
Congenital adrenal hyperplasia can present with an adrenal crisis. See Adrenal insufficiency, acute.
REFERRAL
- All cases for confirmation of the diagnosis, counselling and possible initiation of treatment.
- Urgent: All cases of congenital adrenal hyperplasia.