Abstract
The patient is the second child of healthy unrelated parents,his older brother is normal. At birth the genitalia were ambiguous; the phallus was adequate in size but there was chordee and perineal hypospadias. The labio-scrotal folds were fused. Gonads were palpable in both groins. The karyotype (blood and skin) was normal female XX. Biopsy of both gonads showed immature testes with no ovarian elements; the XX genotype was confirmed in gonadal tissue. Laparotomy showed normal male and absent female internal genitalia. Hypospadias repair was undertaken and the child was reared in the male sex. At 6 years he was noted to be virilising.He had shown rapid growth and weight gain and development of pubic and axillary hair. Plasma steroids by RIA and urinary steroids by GLC/MS indicated partial 21-hydroxylase deficiency. There was normal suppression with exogenous steroids and a selenocholesterol scan showed bilateral adrenal hyperplasia.He is maintained on hydro-cortisone and continues to make a good progress at the age of 9.This patient has an apparently unique combination of genetic endocrine defects unlikely to be due to chance.It is possible that translocation of part of a Y chromosome has influenced the expression of the 21-hydroxylase locus on chromosome 6.
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