A female French bulldog was presented with an enlarged clitoris. Abdominal surgery revealed a normal uterus and gonads resembling testes. Histologically, the gonads contained seminiferous tubules. The karyotype was XX, and the SRY gene was not detected. A diagnosis of XX male, SRY negative disorder of sexual development was made.
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Arch Med Res
January 2025
Programa de Investigación de Cancer de Mama, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City, Mexico; Departamento de Medicina Genómica y Toxicología Ambiental, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City, Mexico. Electronic address:
Na⁺/H⁺ exchanger regulatory factor 2 (NHERF2) is a nucleocytoplasmic protein initially identified as a regulator of membrane-bound sodium-hydrogen exchanger 3 (NHE3). In the cytoplasm, NHERF2 regulates the activity of G protein-coupled receptors (GPCRs), including beta-2 adrenergic receptor (2β-AR), lysophosphatidic acid receptor 2, and parathyroid hormone type 1 receptor. In the nucleus, NHERF2 acts as a coregulator of transcription factors such as sex-determining region Y protein (SRY), involved in male sex determination, and estrogen receptor alpha (ERα).
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 PDFBiomolecules
December 2024
Preservation and Research Center, City of Yokohama, Yokohama 241-0804, Japan.
is an ancestral homologous gene of the male-determining in eutherian mammals and determines maleness in medaka fish. In the Japanese frog, , is located on the Z and W chromosomes. To assess the sex-determining function of in this frog, we investigated its expression in gonads during early tadpole development and conducted genome-editing experiments.
View Article and Find Full Text PDFChem Biol Drug Des
January 2025
Department of Anesthesiology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, Jiangxi Province, China.
Cerebral ischemia/reperfusion injury (IRI) is pathologically associated with ferroptosis. Dexmedetomidine (Dex) exerts neuroprotective activity after cerebral IRI. Our work focused on probing the pharmacologic effect of Dex on ferroptosis during cerebral IRI and the mechanisms involved.
View Article and Find Full Text PDFJ Pediatr
November 2024
Pediatric Heart Lung Center and Section of Pulmonary Medicine, Department of Pediatrics, University of Colorado Anschutz School of Medicine and Children's Hospital Colorado, Aurora, CO.
Objective: To characterize clinical, hemodynamic, imaging, and pathologic findings in children with pulmonary arterial hypertension (PAH) and variants in SRY-box transcription factor 17 (SOX17), a novel risk gene linked to heritable and congenital heart disease-associated PAH.
Study Design: We assembled a multi-institutional cohort of children with PAH and SOX17 variants enrolled in the Pediatric Pulmonary Hypertension Network (PPHNet) and other registries. Subjects were identified through exome and PAH gene panel sequencing.
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