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Chapter: Paediatrics: Growth and puberty

Paediatrics: Disorders of sex development: management

Genetic sex determination: FISH for Y and X chromosomes; karyotype (takes 3–5 days).

Disorders of sex development: management

 

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 biochemist.

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.

 


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