Title: Swyer Syndrome: A Rare Cause of Primary Amenorrhoea
Authors: Deepa V Kanagal, Mahesh Navada H, Prema D’Cunha, Shubha Lakshmipathy, Ganesh Kumar R
DOI: http://dx.doi.org/10.18535/jmscr/v3i11.04
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 1. Swyer GI. Male pseudohermaphroditism: a hitherto undescribed form. Br Med J. 1955;2:709-12) 2. Babre VM, Bendre K, Niyogi G. A rare case of Swyer’s syndrome. Int J Reprod Contracept Obstet Gynecol 2013;2(3):485-487 3. Tayfur M, Kocabas R, Kaygisiz AZ, Tiryaki S, Polat M, Cefle K. Dysgerminoma arising in Swyer Syndrome. Internet J Pathol 2008;7:2 4. Chrysostomou A. Primary amenorrhoea: Swyer syndrome in a women with pure 46,XY gonadal dysgenesis and late presentation. S Afr J Obstet Gynaecol 2015;21(1):16-17 5. Granados H and Phulwani P. Absent Visualization of a Hypoplastic Uterus in a 16 Year Old with Complete 46 XY Gonadal Dysgenesis (Swyer Syndrome). Endocrinol Metab Synd 2013;2:2 6. Sanchez-Moreno J, Canto P, Munguia P, de Leon MB, Cisneros B, Vilchis F, Reyes E, Mendez JP. DNA binding activity studies and computational approach of mutant SRY in patients with 46,XY complete pure gonadal dysgenesis. Mol cell endocrinol. 2009;299:212 7. Machado C, Pereira A, Cruz JM, Cadilhe A, Silva A, Pereira A. A novel SRY nonsense mutation in a case of Swyer syndrome. JPNIM2013;3(1):e030107 8. Uehara S, Funato T, Yaegashi N, et al. SRY mutation and tumor formation on the gonads of XY pure gonadal dysgenesis patients. Cancer Genet Cytogenet. 1999;113:78-84 9. Ayhan A, Bildirici I, Gunalp S, Yuce KI. Pure dysgerminoma of the ovary: A review of 45 well staged cases. Eur J GynaecolOncol. 2000;21:98-101 10. Creatsas G, Deligeoroglou E, Tsimaris P, Pantos K, Kreatsa M. Successful pregnancy in a Swyer syndrome patient with preexisting hypertension. FertilSteril 2011; 96(2):83-5Abstract
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