The role of antipituitary antibodies in the pathophysiology of pituitary hormone deficiency has been increasingly elucidated over the last decade. Prader-Willi syndrome is a genetic disorder which includes hypothalamic/pituitary dysfunction as one of its main features. We looked for autoimmune pituitary involvement in 55 adults with Prader-Willi syndrome, discovering that about 30% of them have a positive titer of antipituitary antibodies. Although the presence of these autoantibodies could only be an "epiphenomenon", our results suggest that autoimmune mechanisms might contribute, at least in part, to the pituitary impairment of Prader-Willi syndrome, and in addition to genetically determined dysfunction of the central nervous system. This paper provides a new perspective on pituitary impairment in these patients, suggesting that the search for hypophisitis could be a reasonable and interesting field for further research.
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http://dx.doi.org/10.1007/s12020-018-1666-5 | DOI Listing |
Eur Child Adolesc Psychiatry
December 2024
Department of Radiology, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by dysplasia in early life. Psychoradiology studies have suggested that mental and behavioral deficits in individuals with PWS are linked to abnormalities in brain structural and functional networks. However, little is known about changes in network-based structural-functional coupling and structural/functional topological properties and their correlations with developmental scales in children with PWS.
View Article and Find Full Text PDFJ Assist Reprod Genet
December 2024
Department of Human Genetic, Altamedica, Rome, Italy.
Purpose: Uniparental disomy (UPD) is a genetic condition which both copies of a chromosome are inherited from a single parent, potentially leading to imprinting disorders. This study aimed to assess the integration of Short Tandem Repeat (STR) analysis into Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) to assess UPD risk and its impact on selecting euploid embryos for embryo transfer in couples with chromosomal translocations involving imprinted chromosomes.
Methods: This study evaluated three couples carrying balanced chromosomal translocations: 45,XX,der(13;14)(q10;q10), 46,XX,t(10;11)(q22;q13), and 45,XY,der(14;15)(q10;q10).
Pediatr Res
December 2024
Division of Molecular Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Obesity and weight regulation disorders are determined by the combined effects of genetics and environment. Polygenic obesity results from the combination of common variants in several genes which predisposes the individual to obesity and its related complications. In contrast, monogenic obesity results from changes in single genes, especially those in leptin-melanocortin pathway, and presents with early onset severe obesity, with or without other syndromic features.
View Article and Find Full Text PDFCureus
December 2024
Pediatrics, Neoclinic Children Hospital, Jaipur, IND.
Pediatric obstructive sleep apnea (OSA) is a prevalent yet often underdiagnosed condition affecting 1-5% of children globally, with higher prevalence in populations such as those with Down syndrome and obesity. Characterized by recurrent upper airway obstruction during sleep, OSA can lead to serious health consequences, including neurocognitive deficits, behavioral issues, and cardiovascular complications. The diagnosis is complicated by symptom overlap with conditions like Attention-Deficit/Hyperactivity Disorder (ADHD) while polysomnography (PSG) remains the gold standard for diagnosis, access to this test is limited in many regions.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Department of Paediatric Endocrinology and Diabetology, Children`s Hospital, University of Bonn, Venusberg Campus 1, Building 30, 53127, Bonn, Germany.
Background: To evaluate the impact of coronavirus disease 2019 (COVID-19) on polysomnographic evaluation in patients with Prader-Willi syndrome (PWS).
Patients And Methods: A retrospective cohort study of two consecutive overnight polysomnograms (PSG) in 92 PWS patients (mean age 9.1, range 3.
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