Familial Swyer syndrome: a rare genetic entity
| Autor: | Ramana Reddy Naru, Amit Kumar Chowhan, Mohammed Basheeruddin Inamdar, Manilal Banoth |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
endocrine system
Gonadal dysgenesis syndrome Pediatrics medicine.medical_specialty endocrine system diseases Genotype Endocrinology Diabetes and Metabolism Gonadal dysgenesis 030209 endocrinology & metabolism 03 medical and health sciences Ovarian tumor Young Adult 0302 clinical medicine Endocrinology Hypergonadotropic hypogonadism medicine Dysgerminoma Humans Amenorrhea Gonadal Dysgenesis 46 XY Ovarian Neoplasms 030219 obstetrics & reproductive medicine business.industry Obstetrics and Gynecology medicine.disease Debulking Female medicine.symptom Ovarian cancer business |
| Zdroj: | Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology. 34(5) |
| ISSN: | 1473-0766 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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