Endocrinological evaluation in a case of XX male syndrome

A case of a phenotype male with 44 XX karyotype is presented. Clinical, endocrinological and anatomical findings are recorded. Serum level of FSH was elevated, LH level was normal and testosterone level was low. A subnormal response by testicular Leydig cells to hCG was observed. A dexamethasone suppression test and an ACTH test were normal. A B scan ultrasonographic examination did not show female internal genitalia, nor a hyperplasia of adrenal tissue. A review is made of the literature with theories of etiology.