Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, hypothalamic dysfunction and specific dysmorphisms. Hypothalamic dysfunction causes dysregulation of energy balance and endocrine deficiencies, including hypogonadism. Although hypogonadism is prevalent in males and females with PWS, knowledge about this condition is limited. In this review, we outline the current knowledge on the clinical, biochemical, genetic and histological features of hypogonadism in PWS and its treatment. This was based on current literature and the proceedings and outcomes of the International PWS annual conference held in November 2019. We also present our expert opinion regarding the diagnosis, treatment, care and counselling of children and adults with PWS-associated hypogonadism. Finally, we highlight additional areas of interest related to this topic and make recommendations for future studies.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7962179 | PMC |
| http://dx.doi.org/10.3390/ijms22052705 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Learned phenotypes emerge during social stress modifying hippocampal orexin receptor gene expression.
Sci Rep
December 2024
Department of Biology, University of South Dakota, 414 East Clark Street, Vermillion, SD, 57069-2390, USA.
Psychological distress, including anxiety or mood disorders, emanates from the onset of chronic/unpredictable stressful events. Symptoms in the form of maladaptive behaviors are learned and difficult to treat. While the origin of stress-induced disorders seems to be where learning and stress intersect, this relationship and molecular pathways involved remain largely unresolved.
View Article and Find Full Text PDFEverolimus in pituitary tumor: a review of preclinical and clinical evidence.
Front Endocrinol (Lausanne)
December 2024
Department of Endocrinology and Metabolism, Lanzhou University Second Hospital, Lanzhou, Gansu, China.
Although pituitary tumors (PTs) are mostly benign, some PTs are characterized by low surgical resection rates, high recurrence rates, and poor response to conventional treatments and profoundly affect patients' quality of life. Everolimus (EVE) is the only FDA-approved mTOR inhibitor, which can be used for oral treatment. It effectively inhibits tumor cell proliferation and angiogenesis.
View Article and Find Full Text PDFKnowledge and attitudes of primary care physicians regarding acromegaly: a survey study with multinational participation.
BMC Prim Care
December 2024
Department of Internal Medicine, Division of Endocrinology and Metabolism, Cerrahpasa Medical Faculty, Istanbul University Cerrahpasa, Istanbul, Turkey.
Background: Acromegaly is a disease with high morbidity and mortality rates. The role of primary care physicians is very important in the early diagnosis of acromegaly. The present study aims to determine the knowledge and attitudes of primary care physicians about acromegaly in different countries worldwide.
View Article and Find Full Text PDFCircadian Disruption in Glaucoma: Causes, Consequences, and Countermeasures.
Front Biosci (Landmark Ed)
December 2024
Halberg Chronobiology Center, University of Minnesota, Minneapolis, MN 55455, USA.
This review explores the intricate relationship between glaucoma and circadian rhythm disturbances. As a principal organ for photic signal reception and transduction, the eye plays a pivotal role in coordinating the body's circadian rhythms through specialized retinal ganglion cells (RGCs), particularly intrinsically photosensitive RGCs (ipRGCs). These cells are critical in transmitting light signals to the suprachiasmatic nucleus (SCN), the central circadian clock that synchronizes physiological processes to the 24-hour light-dark cycle.
View Article and Find Full Text PDFA clinical practical model for preoperative prediction of visual outcome for pituitary adenoma patients in a retrospective and prospective study.
Front Endocrinol (Lausanne)
December 2024
Department of Neurosurgery, Binhai Branch of Nation al Regional Medical Center, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, China.
Objective: Preoperative prediction of visual recovery after pituitary adenoma resection surgery remains challenging. This study aimed to investigate the value of clinical and radiological features in preoperatively predicting visual outcomes after surgery.
Methods: Patients undergoing endoscopic transsphenoidal surgery (ETS) for pituitary adenoma were included in this retrospective and prospective study.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!