HLA (human leukocyte antigens) antigens A, B, and DR were determined in a series of 50 patients with gonadal dysgenesis (GD), separated into different groups according to karyotype. There were no significant differences in frequency of HLA antigen types between GD patients and the population control. When frequencies of the HLA antigens in the various GD patient groups by karyotype were compared, only one significant difference was found: HLA-A3 was more common among GD patients with isochromosome X than among GD patients with karyotype 45,X (p < 0.001, corr. p < 0.008). Although GD patients have a higher expectancy for development of autoimmune disorders, and in our 50 patients thyroglobulin and/or microsomal antibodies were detected in 20 (i.e., 40%), we failed to find any increased frequency of specific HLA antigen types known to be associated with juvenile autoimmune thyroiditis.
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http://dx.doi.org/10.1111/j.1399-0004.1994.tb04166.x | DOI Listing |
HCA Healthc J Med
December 2024
Menorah Medical Center, Overland Park, KS.
Background: Testicular seminoma is the most common malignant tumor of the testis. It occurs at a rate of 5 per 100 000 men, primarily between the ages of 15 to 34. While seminomas typically occur in the testis, other primary sites include the mediastinum, the retroperitoneum, or other extra-gonadal sites.
View Article and Find Full Text PDFBMJ Open
January 2025
Experimental and Clinical Research Center, Charité - Universitätsmedizin Berlin and Max Delbrück Center for Molecular Medicine, Berlin, Germany.
Introduction: Cardiovascular diseases (CVDs) present differently in women and men, influenced by host-microbiome interactions. The roles of sex hormones in CVD outcomes and gut microbiome in modifying these effects are poorly understood. The XCVD study examines gut microbiome mediation of sex hormone effects on CVD risk markers by observing transgender participants undergoing gender-affirming hormone therapy (GAHT), with findings expected to extrapolate to cisgender populations.
View Article and Find Full Text PDFMol Cell Endocrinol
January 2025
Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:
In mammals, male sexual development is initiated by the expression of the Sex-determining-Region-Y (SRY) gene. SRY contains a highly conserved High Mobility Group (HMG) box essential for DNA binding and activity. Variants in SRY cause Differences of Sex Development (DSD), accounting for 10-15% of 46,XY gonadal dysgenesis cases.
View Article and Find Full Text PDFJ Assist Reprod Genet
January 2025
Institute of Basic Medical Sciences of the Chinese Academy of Medical Sciences, School of Basic Medicine, Center of Excellence in Tissue Engineering of Chinese Academy of Medical Sciences, Peking Union Medical College, Peking Union Medical College Hospital, Beijing Key Laboratory, PekingBeijing, 100730, China.
Background: Luteinizing hormone (LH) plays a crucial role in the postnatal development and maturation of gonads. Inactivating mutations of the luteinizing hormone beta subunit (LHB)gene are extremely rare and can result in congenital hypogonadotropic hypogonadism (CHH).
Methods: We conducted DNA sequencing on an 18-year-old female patient with undetectable LH and clinical symptoms of CHH.
Eur J Endocrinol
January 2025
Department of Paediatric Endocrinology, Erasmus University Medical Centre, 3015 GD Rotterdam, The Netherlands.
Objective: 17β-Hydroxysteroid dehydrogenase 3 deficiency (17β-HSDD) and 5α-reductase type 2 deficiency (5α-RD) are rare 46,XY differences of sex development (DSD). This study aims to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.
Design: Retrospective multicentre cohort study.
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