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A family with an atypical presentation of TBX3-related disorder.
Eur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDF1008 Promotes Reproductive Function and Cognitive Activity in Aged Male Mice with High-Fat-Diet-Induced Obesity by Altering Metabolic Parameters and Alleviating Testicular Oxidative Damage, Inflammation and Apoptosis.
Antioxidants (Basel)
December 2024
Division of Urology, Department of Surgery, Tri-Service General Hospital, National Defense Medical Center, Taipei 11490, Taiwan.
The effects of 1008 (LP1008) on age-related cognitive impairment and skeletal muscle atrophy have been reported previously. However, its role in obesity- and age-related hypogonadism has yet to be explored. This study investigates the therapeutic efficacy of low- and high-dose LP1008 in a high-fat-diet-fed male mouse model.
View Article and Find Full Text PDFPseudo-endocrine Disorders: Recognition, Management, and Action.
J Endocr Soc
November 2024
Division of Endocrinology, Metabolism and Diabetes, University of Colorado Denver School of Medicine, Aurora, CO 80045, USA.
"Pseudo-endocrine disorders" refer to proposed conditions that have never been scientifically proven to exist but, due to widespread misinformation available on the internet and other media, are relatively commonly diagnosed and treated with equally unproven and sometimes dangerous treatments. Adrenal fatigue is a nonexistent condition that supposedly results from adrenal exhaustion and atrophy due to chronic stress and has been promoted as a potential explanation for a variety of symptoms. Testing consists of nonvalidated online surveys and salivary cortisol profiles while treatment is not evidence-based at best and can be dangerous.
View Article and Find Full Text PDFThe role of anti-aging approaches in managing hypogonadism in sedentary older males.
Front Aging
November 2024
Faculty of Dentistry, Mutah University, Karak, Jordan.
Article Synopsis
- About 30% of the global population lacks sufficient exercise, contributing significantly to premature death and age-related health issues, especially in individuals over 80.
- The study aims to explore the connection between anti-aging strategies and testosterone levels in older, sedentary men, emphasizing the potential pharmacological interventions.
- Findings suggest a negative cycle between inactivity and low testosterone, with anti-aging methods like exercise, a healthy diet, and testosterone replacement therapy showing promise in improving health outcomes and mitigating age-related diseases.
Kallmann Syndrome: Functional Analysis of a Missense Variant Shows Aberrant RNA Splicing.
Int J Mol Sci
November 2024
CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilhã, Portugal.
Kallmann syndrome is a rare disorder characterized by hypogonadotropic hypogonadism and an impaired sense of smell (anosmia or hyposmia) caused by congenital defects in the development of the gonadotropin-releasing hormone (GnRH) and olfactory neurons. Mutations in several genes have been associated with Kallmann syndrome. However, genetic testing of this disorder often reveals variants of uncertain significance (VUS) that remain uninterpreted without experimental validation.
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