Deepa V Kanagal et al JMSCR Volume 03 Issue 11 November 2015 Page 8145 JMSCR Vol||3||Issue||11||Page 8145-8148||November 2015 Swyer Syndrome: A Rare Cause of Primary Amenorrhoea Authors Deepa V Kanagal 1 , Mahesh Navada H 2 , Prema D’Cunha 3 , Shubha Lakshmipathy 4 , Ganesh Kumar R 5 1 Professor, 2 Associate Professor, 3 Professor and HOD, 4,5 Post Graduate 1,2,3,4,5 Dept of Obstetrics and Gynaecology, Father Muller Medical College, Mangalore, Karnataka, India Corresponding Author Dr Deepa V Kanagal Professor, Dept of Obstetrics and Gynaecology, Father Muller Medical College, Mangalore, Karnataka India Email: deepakanagal@yahoo.co.in, Ph No: 9980164615 Abstract Swyer syndrome, which is pure XY gonadal dysgenesis, is an extremely rare condition, presents with primary amenorrhea, female phenotype and male genotype with fibrous streak gonads. We report a case of Swyer syndrome in a 20 year old girl who presented with primary amenorrhoea and poorly developed secondary sexual characters. Investigations revealed normal thyroid and prolactin levels, high levels of gonadotropins and low levels of estrogen and testosterone. Karyotyping revealed 46 XY. After counseling, the girl underwent diagnostic laparoscopy and bilateralgonadectomy in view of high chance of malignancy in the streak gonads. Histopathology of the streak gonads showed bilateral gonadoblastoma with dysgerminoma. The girl was put on hormone replacement therapy and is on regular follow up. The importance of this condition is its rarity leading to delay in diagnosis, the high risk of malignancy in streak gonads necessitating gonadectomy, the need for hormone replacement therapy for life and the chance of conception by in vitro fertilization as the uterus is retained. Key words: Swyer syndrome, primary amenorrhoea, 46XY karyotype Introduction Genetic females and males in humans are characterized by the presence of an XX or XY karyotype. Swyer syndrome is characterized by XY karyotype with female phenotype. Dr. GimSwyer first recognized this condition. He described this in two women with 46XY karyotype with primary amenorrhoea. (1) It is a rare condition, the subjects are reared as females and there is a high chance of malignancy in the streak gonads. We describe a case of Swyer syndrome presenting with primary amenorrhoea. Case Report A 20 year old girl presented to our outpatient department with primary amenorrhoea and delayed development of secondary sexual characters. There was no similar history in the family members. She gave history of tubercular lymphadenitis 3 years back for which she had received anti tubercular drugs for 6 months. There was no history of cyclical pain abdomen, exposure to radiation or chemotherapy, no features of anosmia, headache or visual symptoms. On examination, she was 152 cm tall, weighing 44 www.jmscr.igmpublication.org Impact Factor 3.79 ISSN (e)-2347-176x ISSN (p) 2455-0450 DOI: http://dx.doi.org/10.18535/jmscr/v3i11.04