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PAEDIATRIC UROLOGY

10.3.2 Late diagnosis and management

Problems arise when cases with disordered sexual differentiation are brought for urological consultation during late childhood or adolescence. These individuals fail to conform to their sex of rearing, cannot perform sexually or still have gonads with neoplastic potential.

Female patients with САН may complain of difficulties during intercourse because of a narrow introitus and inadequate vaginal opening. The patient should be carefully examined, if needed under general anaesthesia, and a gynaecologist should be called in to assess the need for revision vaginoplasty.

Male patients with САН may present with signs of excess androgen production such as rapid growth, hirsutism and precocious puberty. Steroid treatment will stall their precocious puberty and prevent premature closure of the epiphyses.

Male pseudohermaphrodites due to 5a-reductase deficiency reared as girls develop at puberty the secondary characteristics dependent on TST. They become aggressively male in behaviour, their 'clitoris' grows, the voice breaks, the body habitus becomes obviously male, whereas there is no acne or facial hirsutism. Careful urological examination will reveal high lying testes. The question of gender re-assignment at this stage may become the centre of prolonged discussion, and re-evaluation by a team of specialists, including a psychiatrist, is mandatory.