Observation of a group of 60 patients affected by a primary hypogonadism and followed before and after a testicular transplant. They were separated into three sub-groups and the final evaluation was established according to the differences of each sub-group.
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Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Am J Hum Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address:
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.
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Stem Cell Reports
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Division of Stem Cell Medicine, Graduate School of Medicine, Kobe University, Kobe, Japan; Division of Advanced Medical Science, Graduate School of Science, Technology and Innovation, Kobe University, Kobe, Japan; Center for Human Resource Development for Regenerative Medicine, Kobe University Hospital, Kobe, Japan; Division of Signal Pathways, Biosignal Research Center, Kobe University, Kobe, Japan. Electronic address:
Late-onset hypogonadism (LOH) syndrome is characterized by age-related testosterone deficiency and negatively affects the quality of life of older men. A promising therapeutic approach for LOH syndrome is transplantation of testosterone-producing Leydig-like cells (LLCs) derived from human induced pluripotent stem cells (hiPSCs). However, previous studies have encountered obstacles, such as limited cell longevity, insufficient testosterone production, and inefficiency of differentiation.
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Biol Sex Differ
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Gonadotropic axis following endoscopic surgery for pituitary neuroendocrine tumor in patients of reproductive age.
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January 2025
Department of Endocrinology, Diabetes and Nutrition, Nancy Regional University Hospital, Nancy, France.
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