Familial Swyer syndrome: a rare genetic entity

Abstract

Swyer syndrome is a pure gonadal dysgenesis associated with a 46 XY karyotype and primary amenorrhea in a phenotypic female. Individuals in this syndrome are at an increased risk for development of gonadal malignancies. Swyer syndrome (gonadal dysgenesis) running in families is rare event and few such scenarios were reported in the literature. Here we are presenting this rare entity involving three affected siblings born to a non-consanguineous couple. Index case - A 23-year-old female with primary amenorrhea is presented with a mass per abdomen. The clinical findings and laboratory investigations revealed hypergonadotropic hypogonadism picture and, imaging revealed a left ovarian tumor. Primary surgical debulking of ovarian cancer was done, histopathology of which revealed a dysgerminoma FIGO stage IIIC. The family history of the patient revealed a similar pattern as the elder sister had primary amenorrhea and had succumbed to ovarian cancer and the younger sister also has primary amenorrhea. Karyotype of all the three patients revealed a male genotype with a female phenotype. The early diagnosis of the patients with Swyer syndrome is very important because of the increased risk for the development of malignancy. This is a rare event to have two sisters with ovarian cancers in three siblings affected with familial gonadal dysgenesis syndrome each of them having a different genotype and first of its kind to ever be reported in literature.

Chinese abstract

Swyer综合征是一种单纯性腺发育异常、女性外表、46 XY核型、原发性闭经与性腺恶性肿瘤的风险增加的症候群。家族性Swyer综合征(性腺发育异常)是一种罕见事件, 文献中很少报道。在此我们报道了这个罕见的全部特性, 受影响的是非近亲夫妇所生的三姐妹。病例-1例23岁女性原发性闭经患者, 腹部肿块。临床表现及实验室检查均显示高促性腺激素性腺功能减退, 影像学显示左侧卵巢癌。对卵巢癌进行了手术切除, 病理组织学检查显示为非生殖细胞瘤, FIGO分期为IIIC。患者家族史显示, 姐姐有原发性闭经并已死于卵巢癌, 妹妹也有原发性闭经。3例患者的核型均为男性基因型, 但均为女性表型。由于恶性肿瘤发生风险的增加, Swyer综合征的早期诊断显得非常重要。此为罕见事件, 三姐妹中有两个患有卵巢癌且均有家族性性腺发育异常综合征, 每个姐妹都有不同的基因型, 此在文献中首次报道。

Keywords:

• Familial Swyer syndrome
• primary amenorrhea
• karyotype
• dysgerminoma
• surgical debulking

Consent

Written informed consent was obtained for publication of this case report and any accompanying images

Disclosure statement

The authors declare that they have no conflict of interest.

Ethical approval

Institutional ethical committee approval obtained.