Failure of the müllerian regression factor in two patients with complete androgen insensitivity syndrome.
The present paper describes the histological and endocrinologic features of 2 subjects with 46,XY karyotype affected by complete androgen insensitivity syndrome (AIS) with müllerian structures. Both patients had fallopian tubes, but only one had also uterus and presented a seminoma. Serum levels of luteinizing hormone, testosterone and estradiol were high or in the upper part of normal limits, whereas levels of follicle-stimulating hormone were normal. The association between AIS and the presence of müllerian structures observed in these 2 patients might be explained by an impaired synthesis of müllerian regression factor or by a failure in its mechanism of action.
D000293:Adolescent; D000328:Adult; D054304:Anti-Mullerian Hormone; D012734:Disorders of Sex Development / Q000097:blood / Q000175:diagnosis / Q000473:pathology*; D004958:Estradiol / Q000097:blood; D005187:Fallopian Tubes / Q000473:pathology*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006023:Glycoproteins; D006131:Growth Inhibitors; D006801:Humans; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D009095:Mullerian Ducts / Q000473:pathology*; D011388:Prolactin / Q000097:blood; D013735:Testicular Hormones / Q000502:physiology*; D013739:Testosterone / Q000097:blood
D006023:Glycoproteins; D006131:Growth Inhibitors; D013735:Testicular Hormones; D013739:Testosterone; D004958:Estradiol; D054304:Anti-Mullerian Hormone; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone