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Paediatrics: Management of sex development disorders
2021-03-02 12:00 AM
Most infants presenting with a disorder of sexual differentiation will pre-sent with ambiguous genitalia at birth.
Disorder of sexual differentiation
Investigations
Laboratory
- Genetic sex determination: FISH for Y and X chromosomes; karyotype(takes 3–5 days).
- Serum electrolytes.
- Blood sugar (hypoglycaemia).
- Adrenal androgens: plasma testosterone; 17-OH progesterone; urine steroid profile; LH and FSH.
- Molecular genetic studies; blood (DNA).
If a male/mosaic karyotype is confirmed, further investigations are directed at establishing whether testicular tissue is capable of producing androgens:
- hCG stimulation test;
- testosterone: DHT ratio;
- androgen receptor binding studies;
- genital skin biopsy (fibroblast).
Imaging studies
- US scan pelvis: anatomy of urogenital sinus/vagina/uterus.
- US scan abdomen: renal anomalies.
- Urogenital sonogram.
- MRI.
Internal examination
- Examination under anaesthesia (+/– cystography).
- Laparoscopy.
- Gonadal biopsy.
Management
This is professionally challenging and requires a multidisciplinary team including the following:
- Paediatric endocrinologist.
- Neonatologist.
- Paediatric urologist.
- Gynaecologist.
- Geneticist.
- Radiologist.
- Psychologist.
Clinical biochemistry
Most infants presenting with a disorder of sexual differentiation will pre-sent with ambiguous genitalia at birth.
- Parents and their relatives will be anxious to know the sex of their newborn baby.
- Decisions about an infant’s sex (sex assignment) must be delayed until the multidisciplinary team has carried out a thorough assessment.
- Birth registration must be delayed until this has been completed and an agreement on sex assignment has been made with the parents.