Endocrine Abstracts

We present here a case of diagnostic dilemma in a 34-year female presenting with Amenorrhoea. She was recently married and saw GP for infertility and history of hot flushes, melasma and migraine. Clinic history revealed primary amenorrhoea diagnosed in Brazil at age 15. Patient was told she was born without ovaries and was started on Premarin (oetrogen). She had normal female secondary sexual charcteristics, functional female genitalia and growth. On examination, she had a normal female genitalia and body habitus with height of 1.81 m. Investigations showed FSH:42 (H), LH 20 (H), Oestradiol 157, testosterone 1.1, Free testosterone index 0.7, SHBG 150 (H) and normal pituitary profile. Genetic studies revealed Male genotype 46,XY. US and MRI pelvis confirmed rudimentary uterus and right atrophic ovarian tissue. Differential diagnosis of this presentation of Disorder of Sexual Development (DSD) included Complete Androgen Insenstivity Syndrome (CAIS), Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) or Swyer Syndrome. Normal female range testosterone ruled out CAIS and genotype of 46,XY confirmed a rare diagnosis of Swyer Syndrome.