http://dx.doi.org/10.5455/2320-1770.ijrcog20130955 Volume 2 · Issue 3 Page 485 International Journal of Reproduction, Contraception, Obstetrics and Gynecology Babre VM et al. Int J Reprod Contracept Obstet Gynecol. 2013 Sep;2(3):485-487 www.ijrcog.org pISSN 2320-1770 | eISSN 2320-1789 Case Report A rare case of Swyer’s syndrome Vijaya M. Babre*, Kirti Bendre, Geeta Niyogi INTRODUCTION Swyer’s syndrome was first described by Jim Swyer in 1955. Affected individuals have an XY karyotype but external and internal genitalia are of the female type. The gonads are usually replaced by fibrous streaks. Patients usually present in adolescence with primary amenorrhea and lack of secondary sexual characters. Swyer’s syndrome is a rare entity incidence being 1:30,000. Purpose of reporting this case is its rarity and importance of diagnosis of XY female as there is high incidence of gonad malignancy, in affected person. CASE REPORT A 17 year old girl came to OPD with her mother with complaints of primary amenorrhea and no development of breast. There was no history of cyclical abdominal pain, hormonal intake, radiation exposure, chemotherapy or any central nervous symptoms such as headache or visual disturbances. There was no past significant surgical history. There was neither history of childhood tuberculosis nor history of Koch’s in the family. She was the first child of a non-consanguineous marriage. She has one younger sister of 15 yrs old who has got her menarche at age of 14 yrs. On general examination she was 143 cm. tall and weighs 39 kg. Body mass index was (BMI) 18 kg/m 2 .There was no evidence of acanthosis nigricans, acne, hirsutism, goiter, cushingoid features of Turner’s stigmata, like webbed neck, cubitus valgus. Examination of secondary sexual characteristics revealed no breast development with hypopigmented areola. Public and axillary hair were sparse. Department of Obstetrics & Gynaecology, K.J. Somaiya Medical College and Research Centre, Sion 400022, Mumbai, Maharashtra, India Received: 23 July 2013 Accepted: 4 August 2013 *Correspondence: Dr. Vijaya M. Babre, E-mail: drvbabre@gmail.com © 2013 Babre VM et al. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ABSTRACT Swyer syndrome was first described by Jim Swyer in 1955. It is a form of “Pure Gonadal Dysgenesis”. The affected female has 46XY karyotype. A 17 year old unmarried girl came with complaints of primary amenorrhea, non development of breast. On examination she has normal built. Examination of secondary sexual characters revealed no breast development, pubic and axillary hairs were sparse. Female type of genitalia with vaginal opening. Serum FSH was 117.5 mIU/ml. Thyroid and Prolactin was in normal range. Karyotype showed genotype of 46XY. Diagnostic laparoscopy showed streak gonads, small uterus, and normal fallopian tubes. Diagnosis of Swyer syndrome was made. Patient was started on hormonal replacement therapy (HRT). In Swyer syndrome there is a mutation of SRY gene leads failure of development of testis. Mullerian duct development takes place by default. These patients can have normal sexual intercourse and can become pregnant by donor oocyte. They need to be on HRT. The risk of gonadoblastoma and dysgerminoma are very high in streak gonads so bilateral gonadectomy is advised. Keywords: Swyer’s syndrome, Primary amenorrhea DOI: 10.5455/2320-1770.ijrcog20130955