Using chromosome heteromorphisms and blood cell types as genetic markers, we demonstrated chimerism in a chi46,XX/46,XY true hermaphrodite. The pattern of inheritance of the chromosome heteromorphisms indicates that this individual was probably conceived by the fertilization, by two different spermatozoa, of an ovum and the second meiotic division polar body derived from the ovum and subsequent fusion of the two zygotes. This conclusion is based on the identification of the same maternal chromosomes 13, 16, and 21 in both the 46,XX and 46,XY cells of the patient. In the two cell lines of the chimera, chromosomal markers showed different paternal No. 9 chromosomes and sex chromosomes, as well as the same paternal chromosome 22.
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http://dx.doi.org/10.1126/science.7350665 | DOI Listing |
J Clin Endocrinol Metab
January 2025
Marmara University School of Medicine, Department of Pediatric Endocrinology, 34854, Istanbul, Turkey.
Context: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.
Objective: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9.
Front Surg
December 2024
Department of Burn and Plastic Surgery, West China Hospital, Sichuan University, Chengdu, China.
Background: Ovotesticular disorder of sex development is a rare form of disorder of sex development that manifests as ovotestis in individuals. The precise diagnosis and the choice of surgical procedures are still in conflict condition due to the rarity of the disease, diverse clinical presentations, and the lack of evidence-based medical studies on postoperative outcomes.
Case Presentation: We present a 46, XX ovotesticular disorder of sex development case, aged 19, with Prader stage IV virilization who underwent feminizing genitoplasty surgery.
Can Vet J
November 2024
Centre de Diagnostic Vétérinaire de l'Université de Montréal (CDVUM) (St-Jean, Gagnon) and Swine and Poultry Infectious Diseases Research Center (CRIPA-FRQ) (Charreton-Sanford, Pesant, Gagnon), 3200 Rue Sicotte, Saint-Hyacinthe, Quebec J2S 2M2; Centre de Recherche en Reproduction et Fertilité, Université de Montréal, Saint-Hyacinthe, Quebec J2S 7C6 (St-Jean, Zamberlam, Boyer); MAPAQ - Direction Générale de la Santé Animale et de l'Inspection des Aliments, 5130 Boul. Guillaume-Couture, Lévis, Quebec G6V 9L4 (Beaudoin).
Sex Med
April 2024
Department of Urology, The First Hospital of Jilin University, Changchun, 130021, China.
Afr J Reprod Health
April 2024
Department of Clinical Genetics, Assafa College, Khartoum-Sudan.
Given the scarce data on DSD in Sudan, we aimed to characterize DSD's clinical and genetic profile in Sudanese patients. We studied 60 patients with DSD using clinical data, cytogenetics, and PCR for the SRY gene. The results showed that 65% grew up as females and 35% as males.
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