{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(3)"],"submitter":["Rudnicka E"],"pubmed_abstract":["A complete gonadal dysgenesis (CGD) with 46,XY karyotype is known as the Swyer syndrome and belongs to the group of 46,XY differences of sex development (DSD). The main problem in patients with Swyer syndrome is the delayed puberty and primary amenorrhea. Moreover, intrabdominal dysgenetic gonads in the patient with genetic material of a Y chromosome may conduce to the development of gonadal tumors, such as gonadoblastoma or germinoma. The management of such patients is based on preventive excision of dysgenetic gonads and long-term hormonal replacement therapy. Sporadic cases are considered more common than familial cases. This paper presents two siblings with Swyer syndrome in whom gonadoblastoma was found. A thorough review of familial CGD with 46,XY DSD in the literature from the last "],"journal":["Journal of clinical medicine"],"pagination":["785"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10856735"],"repository":["biostudies-literature"],"pubmed_title":["A Risk of Gonadoblastoma in Familial Swyer Syndrome-A Case Report and Literature Review."],"pmcid":["PMC10856735"],"pubmed_authors":["Kruszewska J","Rudnicka E","Smolarczyk R","Jaron A","Derlatka P","Jazdzewski K","Kucharska AM"],"additional_accession":[]},"is_claimable":false,"name":"A Risk of Gonadoblastoma in Familial Swyer Syndrome-A Case Report and Literature Review.","description":"A complete gonadal dysgenesis (CGD) with 46,XY karyotype is known as the Swyer syndrome and belongs to the group of 46,XY differences of sex development (DSD). The main problem in patients with Swyer syndrome is the delayed puberty and primary amenorrhea. Moreover, intrabdominal dysgenetic gonads in the patient with genetic material of a Y chromosome may conduce to the development of gonadal tumors, such as gonadoblastoma or germinoma. The management of such patients is based on preventive excision of dysgenetic gonads and long-term hormonal replacement therapy. Sporadic cases are considered more common than familial cases. This paper presents two siblings with Swyer syndrome in whom gonadoblastoma was found. A thorough review of familial CGD with 46,XY DSD in the literature from the last ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jan","modification":"2025-04-05T14:51:33.969Z","creation":"2025-04-05T14:51:33.969Z"},"accession":"S-EPMC10856735","cross_references":{"pubmed":["38337479"],"doi":["10.3390/jcm13030785"]}}