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Purpose SF-1 is involved in gonadal and adrenal development, sex differentiation and steroidogenesis. 14 different SF-1 mutations have been described. Discrepancy between a severely undervirilised phenotype and intact testicular architecture and Wolffian duct development is noticed. Most patients have undergone early gonadectomy, so little is known about testicular function during puberty. Material and Methods We present detailed hormonal and pathological studies in two adolescents, with SF-1 mutations and advanced pubertal development. Results Case 1 is a phenotypical girl referred at the age of 13 because of severe virilisation. The karyotype was 46,XY, levels of FSH and LH were elevated and testosterone was in the normal male pubertal range. A heterozygous deletion of the SF-1 gene was identified. Gonadectomy specimen showed a left inguinal testis with Leydig cell hyperplasia, normal number of germ cells and incomplete spermatogenesis, and a right abdominal testis with scarce germ cells displaying premalignant changes. Case 2 is a 14 year old 46,XY boy, born with ambiguous genitalia. Initially, a female gender was assigned, but later, he was reassigned male after evaluation by a specialised psychologist. A heterozygous SF-1 mutation was found. At the age of 13, bilateral testicular biopsies showed normal testes with normal number and maturation of germ cells. Spontaneous pubertal development started at 13.5 years, and clinical progression through puberty is hitherto normal. Penile length is increasing, gender identity is male. Conclusions SF-1 mutations present with wide phenotypic variability. However, a marked discrepancy between severe undervirilisation of external genitalia at birth, leading to female gender assignment in most cases, and the presence of intact testicular architecture and Wolffian structures is frequent. Despite failure of external virilisation during the fetal period, pubertal testis function and spermatogenesis seem to be partially conserved, at least in some patients. As in other forms of DSD, (pre)malignant changes may be present, especially in non-scrotal testes. a |
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