{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:30:41Z","timestamp":1787070641348,"version":"build-2736575974"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>Gonadal dysgenesis is a distinct variety of Disorders of Sexual Differentiation (DSD) characterised by incomplete or defective formation of the gonads due to either structural or numerical anomalies of the sex chromosomes or mutations in the genes involved in the development of the gland. Here we present two such rare cases that presented during childhood. Both patients presented with ambiguous genitalia with a 45XO\/46XY mosaic chromosome pattern. First case, an infant underwent laparoscopic excision of streak gonad, and a single stage hypospadias repair later. Second case, an adolescent who underwent gonadectomy as a child, presented with a mass which was excised and found to contain uterine and ovarian tissue; second stage hypospadias repair is being planned. Mixed gonadal dysgenesis usually presents with a unilateral testis, a streak gonad on the contralateral side and persistent mullerian structures. The most common karyotype noted is 45XO\/46XY. These cases are known to have ambiguous external genitalia. The streak gonads have an increased malignant potential and thus, these patients should be carefully screened and followed up for gonadoblastoma.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijpm.ijpm_358_20","type":"journal-article","created":{"date-parts":[[2024,5,30]],"date-time":"2024-05-30T04:11:46Z","timestamp":1717042306000},"page":"390-393","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Disorders of sexual differentiation"],"prefix":"10.4103","volume":"64","author":[{"given":"Mary Anelia","family":"Correya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramesh","family":"Babu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Archana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samson","family":"Ravirajendiran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R2-32-20240829","doi-asserted-by":"crossref","first-page":"655","DOI":"10.4103\/0377-4929.85141","article-title":"Mixed gonadal dysgenesis with 45, X\/46, X, idic (Y) karyotype: A case report","volume":"54","author":"Srivastava","year":"2011","journal-title":"Indian Journal of Pathology and Microbiology"},{"key":"R3-32-20240829","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3109\/01485019108987620","article-title":"Mixed gonadal dysgenesis: Case reports and a review of 65 Japanese cases","volume":"26","author":"Nonomura","year":"1991","journal-title":"Arch Androl"},{"key":"R4-32-20240829","doi-asserted-by":"crossref","first-page":"e13009","DOI":"10.1111\/and.13009","article-title":"Clinical aspects of 49 infertile males with 45, X\/46, XY mosaicism karyotype: A case series","volume":"50","author":"Mohammadpour Lashkari","year":"2018","journal-title":"Andrologia"},{"key":"R5-32-20240829","first-page":"489","article-title":"Gonadotropins and sex hormones in healthy Chinese infants","volume":"45","author":"Ji","year":"2008","journal-title":"Indian Pediatr"},{"key":"R6-32-20240829","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1687-9856-2014-4","article-title":"State of the art review in gonadal dysgenesis: Challenges in diagnosis and management","volume":"2014","author":"McCann-Crosby","year":"2014","journal-title":"Int J Pediatr Endocrinol"},{"key":"R7-32-20240829","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.ijscr.2014.12.011","article-title":"A rare case of mixed gonadal dysgenesis with mosaicism 45, X\/46, X,+ mar","volume":"7","author":"Soheilipour","year":"2015","journal-title":"Int J Surg Case Rep"},{"key":"R8-32-20240829","doi-asserted-by":"crossref","first-page":"313","DOI":"10.4103\/0377-4929.64297","article-title":"Mixed gonadal dysgenesis with normal karyotype: A rare case report","volume":"53","author":"Anand","year":"2010","journal-title":"Indian J Pathol Microbiol"},{"key":"R9-32-20240829","first-page":"156","article-title":"The phenotype of 45, X\/46, XY mosaicism: An analysis of 92 prenatally diagnosed cases","volume":"46","author":"Chang","year":"1990","journal-title":"Am J Hum Genet"}],"container-title":["Indian Journal of Pathology and Microbiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/IJPM.IJPM_358_20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:33:59Z","timestamp":1787067239000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/IJPM.IJPM_358_20"}},"subtitle":["Report of two rare cases"],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.4103\/ijpm.ijpm_358_20","relation":{},"ISSN":["0377-4929"],"issn-type":[{"value":"0377-4929","type":"print"}],"subject":[],"published":{"date-parts":[[2021,4]]}}}