GONADAL-DYSGENESIS - ASSOCIATIONS BETWEEN CLINICAL-FEATURES AND SEX OF REARING

The purpose of this study was to review the phenotypic and endocrine f eatures of a series of patients with ambiguous genitalia or sex-revers al due to gonadal dysgenesis (GD) and to analyse the impact of these o n the decision about sex of rearing. This study is a retrospective ana lysis of 22 patients with GD treated between 1964 and 1994. We assesse d external genitalia, internal genital structures, gonadal morphology (n=22), basal and human CG (hCG) stimulated serum testosterone levels (n=11) and serum gonadotropin levels (n=13) in patients with GD. Basal and hCG stimulated testosterone levels were also measured for 43 cont roI patients. There were no significant associations or correlations b etween internal or external genital phenotype, endocrine function and gonadal morphology. There was a significant association between sex of rearing and external genitalia (P=0.03). Patients with gonadal dysgen esis had significantly lower stimulated/basal testosterone levels than the controls (P=0.0001). Given that the clinical features of various forms of GD overlap considerably, gonadal biopsy should remain the inv estigation of choice when attempting to define the pathology.