Disorders of Sex Development (DSD)
Description Diagnostic criteria General and supportive measures Medicine treatment Referral ICD-10 Code: 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, maldes
General and supportive measures
ICD-10 Code: 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,
- maldescent of one or both gonads,
- atypical size of the phallus,
- scrotalisation of labia, and
- 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.
- Elevated 17-hydroxyprogesterone level to confirm a diagnosis of adrenal hyperplasia (to be done after day 3 of life for an accurate interpretation of the result).
- Further investigations (in discussion with referral centre):
- Genitourinary imaging (e.g. ultrasound).
- Genetic evaluation.
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 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 if necessary.
- Urgent: All cases of congenital adrenal hyperplasia.
Standard Treatment Guidelines and Essential Medicines List for South Africa, Hospital Level, Paediatrics, 2023 Edition
Chapter 7: Endocrine, 7.1 Disorders Of Sex Development (DSD)