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http://dx.doi.org/10.1007/s12020-014-0434-4 | DOI Listing |
Biomolecules
January 2025
Division of Endocrinology Diabetes and Metabolism, Baylor College of Medicine, Houston, TX 77030, USA.
We previously reported that mediated the improvement in body composition in testosterone (T)-treated hypogonadal men by shifting adipogenesis to myogenesis. Previous preclinical studies suggest that regulates , an important osteoblastic transcription factor, expression and activity. However, the changes in , and other genes/proteins involved in osteoblastogenesis with T therapy in hypogonadal men are unexplored.
View Article and Find Full Text PDFJ Endocr Soc
January 2025
Division of Pediatric Endocrinology, Hadassah Medical Center, Jerusalem 91240, Israel.
Context: Despite a growing number of studies, the genetic etiology in many cases of ovarian dysgenesis is incompletely understood.
Objectives: This work aimed to study the genetic etiology causing absence of spontaneous pubertal development, hypergonadotropic hypogonadism, and primary amenorrhea in 2 sisters.
Methods: Whole-exome sequencing was performed on DNA extracted from peripheral lymphocytes of 2 Palestinian sisters born to consanguineous parents.
J Pediatr Endocrinol Metab
January 2025
Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.
Objectives: Moebius syndrome (MS) is a rare congenital non-progressive rhombencephalic disorder mostly characterised by abducens and facial nerve palsy, but with a multifaceted clinical presentation. Isolated or multiple pituitary hormone deficiencies in the setting of MS have been occasionally reported, but the simultaneous involvement of three or more hypothalamic-pituitary axes has never been described. We hereby report the case of a girl with MS that showed a co-occurrence of GH-, TSH- and ACTH-deficiency.
View Article and Find Full Text PDFAndrology
January 2025
Department of Digestion, Metabolism and Reproduction, Institute of Reproductive and Developmental Biology, Hammersmith Campus, Imperial College London, London, UK.
Luteinizing hormone (LH), along with its agonist choriongonadotropin (hCG) in humans, is the key hormone responsible for the tropic regulation of the gonadal function. LH and hCG act through their cognate receptor, the luteinizing hormone/choriongonadotropin receptor (LHCGR; more appropriately LHR in rodents lacking CG), located in the testis in Leydig cells and in the ovary in theca, luteal, and luteinizing granulosa cells. Low levels in LHCGR are also expressed in numerous extragonadal sites.
View Article and Find Full Text PDFDifferences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular hormones, leading to varying degrees of under-virilization. A 19-year-old phenotypically normal female from Kakamega, Kenya, presented with primary amenorrhea.
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