ALTERATION OF GENDER IDENTITY IN A CHILD WITH ASYMMETRIC GONADAL-DYSGENESIS AND COMPLEX CHROMOSOME ABNORMALITY

Background. - Gender identity is influenced by genetic and hormonal factors and also by the sex of rearing. Case report. - A child was born with ambiguous genitalia. Male sex assignment was made. Hypospadias and left inguinal hernia were present. The hernial sac contained an ovarian tissue. Plasma testosterone, 17-OH progesterone, cortisone levels were normal as were basal FSH and LH levels. There was a vagina but no uterus. The karyotype showed 45X/46XY mosaicism. The testis in the right scrotum was removed and vulvoplasty was performed at the age of 10 months; the patient was than raised as a female. Several courses of reconstructive genital surgery were necessary between 1 and 8 years of age. The girl suffered from trichotillomania and sleep disorders from the age of 4 years and learning difficulties and social phobia from the age of 8. When 11.5 years-old, size had clinical features of Turner's syndrome, was depressive but appeared to prefer male playmates. Conclusion. - Two mechanisms may explain alterations in gender identity in this patient with asymetric gonadal dysgenesis; 1) early and prolonged androgen exposure as seen in patients with congenital adrenal hyperplasia; 2) insufficient counselling with parents regarding questions of gender identity.