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Background: Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) is a rare variant of 46,XY disorders of sex development (DSD).
Aim: To give clinical, hormonal and molecular genetic characteristics of cases of 46,XY DSD associated with variants in the HSD17B3 gene.
Materials And Methods: The study included 310 patients with 46,XY DSD for the period from 2015 to 2019.
Through biochemical transformation of host-derived bile acids (BAs), gut bacteria mediate host-microbe crosstalk and sit at the interface of nutrition, the microbiome, and disease. BAs play a crucial role in human health by facilitating the absorption of dietary lipophilic nutrients, interacting with hormone receptors to regulate host physiology, and shaping gut microbiota composition through antimicrobial activity. Bile acid deconjugation by bacterial bile salt hydrolase (BSH) has long been recognized as the first necessary BA modification required before further transformations can occur.
View Article and Find Full Text PDFCellular Cholesterol Loss Impairs Synaptic Vesicle Mobility via the CAMK2/Synapsin-1 Signaling Pathway.
Front Biosci (Landmark Ed)
January 2025
Department of Neurology, Jinshan Hospital, Fudan University, 201508 Shanghai, China.
Background: Neuronal cholesterol deficiency may contribute to the synaptopathy observed in Alzheimer's disease (AD). However, the underlying mechanisms remain poorly understood. Intact synaptic vesicle (SV) mobility is crucial for normal synaptic function, whereas disrupted SV mobility can trigger the synaptopathy associated with AD.
View Article and Find Full Text PDFAndrogens are pleiotropic and play pivotal roles in the formation and variation of sexual phenotypes. We show that differences in circulating androgens between the three male mating morphs in ruff sandpipers are linked to 17-beta hydroxysteroid dehydrogenase 2 (HSD17B2), encoded by a gene within the supergene that determines the morphs. Low-testosterone males had higher expression in blood than high-testosterone males, as well as in brain areas related to social behaviors and testosterone production.
View Article and Find Full Text PDFGlucocorticoid receptors: The key of the response to steroid therapy in autoimmune hepatitis.
Clin Exp Hepatol
March 2024
Department of Pediatric Hepatology, Gastroenterology and Nutrition, National Liver Institute, Menoufia University, Shebin El-Kom, Menoufia, Egypt.
Aim Of The Study: This study was performed to investigate the hepatic expression of glucocorticoid receptors (GR) and 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) in pediatric autoimmune hepatitis (AIH) patients and its relation to the steroid response.
Material And Methods: This study included 100 patients diagnosed with AIH on immunosuppressive therapy with different responses to treatment. The patients were subjected to full history taking and thorough clinical examination, laboratory investigations, abdominal ultrasound and liver biopsy for histopathological evaluation and assessment of the hepatic expression of GR and 11β-HSD1.
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