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Congenital Hypogonadotropic Hypogonadism With Novel Pathogenic Variants in FGFR1 and GNRHR.
JCEM Case Rep
January 2025
Department of Endocrinology and Metabolism, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
Congenital hypogonadotropic hypogonadism (CHH) can cause delayed secondary sexual characteristics and contribute to juvenile osteoporosis, with multiple causative genes having been reported. We treated a 27-year-old man diagnosed with central hypogonadism, presenting with delayed secondary sexual characteristics and juvenile osteoporosis, using bone resorption inhibitors and testosterone therapy. Genetic testing revealed missense variants both in the fibroblast growth factor receptor 1 () and gonadotropin-releasing hormone receptor () genes, a combination that has not been previously reported.
View Article and Find Full Text PDFLow Bone Mineral Density and Associated Factors Among People Living With HIV in Kerman, Iran: A Cross-Sectional Study in 2021-2022.
J Assoc Nurses AIDS Care
January 2025
Hamidreza Rashidi, MD, is a Researcher, HIV/STI Surveillance Research Center, WHO Collaborating Center for HIV Surveillance, Kerman University of Medical Sciences, Kerman, Iran.
Chronic diseases such as osteoporosis and low bone mineral density (BMD) are significant public health concerns for people living with HIV (PLWH), especially with the increased life expectancy because of antiretroviral therapy (ART). This study evaluated the prevalence and associated factors of low BMD among 94 PLWH in Kerman, Iran, from September 2021 to February 2022. Using dual-energy X-ray absorptiometry, BMD was measured, with low BMD defined by specific T-scores and Z-scores.
View Article and Find Full Text PDFNon-colorectal Cancer Screening and Vaccinations in Patients with Inflammatory Bowel Disease: Expert Review.
Clin Gastroenterol Hepatol
January 2025
Inflammatory Bowel Disease Center, Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville FL. Electronic address:
Description: The aim of this American Gastroenterological Association (AGA) Clinical Practice Update (CPU) is to provide best practice advice (BPA) statements for gastroenterologists and other health care providers who provide care to patients with inflammatory bowel disease (IBD). The focus is on IBD-specific screenings (excluding colorectal cancer screening, which is discussed separately) and vaccinations. We provide guidance to ensure that patients are up to date with the disease-specific cancer screenings, vaccinations, as well as advice for mental health and general wellbeing.
View Article and Find Full Text PDFAetiology, diagnosis and treatment of thalassemia-associated osteoporosis of the adult.
J Endocrinol Invest
January 2025
Section of Endocrinology, Geriatrics and Internal Medicine, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Aim: This review aims to overview factors contributing to TAO development and addresses the targeted diagnostic work-up and treatment management in adult thalassemic patients.
Results: Osteoporosis management in Thalassemia is challenging because several factors contributing to its pathogenesis should be considered and controlled starting from child- hood. A multidisciplinary approach is crucial.
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