Correction to: "From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes"
J Clin Endocrinol Metab. 2024 Apr 8:dgae184. doi: 10.1210/clinem/dgae184. Online ahead of print.NO ABSTRACTPMID:38587807 | DOI:10.1210/clinem/dgae184 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 8, 2024 Category: Endocrinology Source Type: research
Hormone Therapy During Infancy or Early Childhood for Patients with Hypogonadotropic Hypogonadism, Klinefelter or Turner Syndrome
Managing patients unable to produce sex steroids using gonadotropins to mimic minipuberty in hypogonadotropic hypogonadism, or sex steroids in patients with Klinefelter or Turner syndrome, is promising. There is a need to pursue research in this area, with large prospective cohorts and long-term data before these treatments can be routinely considered. (Source: Endocrinology and Metabolism Clinics of North America)
Source: Endocrinology and Metabolism Clinics of North America - March 8, 2024 Category: Endocrinology Authors: Elodie Fiot, Juliane L éger, Laetitia Martinerie Source Type: research
Anti-M üllerian hormone, testicular descent and cryptorchidism
Anti-Müllerian hormone (AMH) is a Sertoli cell-secreted glycoprotein involved in male fetal sex differentiation: it provokes the regression of Müllerian ducts, which otherwise give rise to the Fallopian tubes, the uterus and the upper part of the vagina. In the first trimester of fetal life, AMH is expressed independently of gonadotropins, whereas from the second trimester onwards AMH testicular production is stimulated by FSH and oestrogens; at puberty, AMH expression is inhibited by androgens. AMH has also been suggested to participate in testicular descent during fetal life, but its role remains unclear. Serum AMH is ...
Source: Frontiers in Endocrinology - March 4, 2024 Category: Endocrinology Source Type: research
Genes and Pathways Underpinning Klinefelter Syndrome at Bulk and Single-Cell Levels
Biochem Genet. 2024 Feb 19. doi: 10.1007/s10528-024-10689-6. Online ahead of print.ABSTRACTKlinefelter syndrome (KS) is the most frequent genetic anomaly in infertile men. Given its unclear mechanism, we aim to investigate critical genes and pathways in the pathogenesis of KS based on three bulk and one single-cell transcriptome data sets from Gene Expression Omnibus. We merged two data sets (GSE42331 and GSE47584) with human KS whole blood samples. When comparing the control and KS samples, five hub genes, including defensin alpha 4 (DEFA4), bactericidal permeability increasing protein (BPI), myeloperoxidase (MPO), intele...
Source: Biochemical Genetics - February 20, 2024 Category: Genetics & Stem Cells Authors: Linlin Tian Yan Yu Ziqing Mao Dandan Xu Hongbo Zhang Mengkai Qiao Tong Chen Wen Liu Source Type: research
Communication of the diagnosis to Klinefelter subjects: an observational study on a key moment of the patient ’s life
ConclusionTo mitigate the adverse effects of poorly timed and inadequately delivered communication, typically by a single person, it is advisable that such communication be carried out at the onset of adolescence by an interdisciplinary team of HCPs (including psychologists, geneticists, endocrinologists) and parents. The information provided should not solely concentrate on hormonal and fertility aspects, but also consider other factors such as psychological variables. (Source: Journal of Endocrinological Investigation)
Source: Journal of Endocrinological Investigation - February 20, 2024 Category: Endocrinology Source Type: research
Klinefelter syndrome in primary care: A case and review
J Family Med Prim Care. 2023 Dec;12(12):3406-3408. doi: 10.4103/jfmpc.jfmpc_777_23. Epub 2023 Dec 21.ABSTRACTReviewed here is a case of Klinefelter Syndrome (KS) diagnosed by a primary care physician after recognition of key features of KS, confirmed by karyotype, along with a discussion of factors associated with this patient's diagnosis and care. Recognition of the key features of this syndrome is important in order to provide proper screening, risk mitigation and treatment to these patients.PMID:38361885 | PMC:PMC10866248 | DOI:10.4103/jfmpc.jfmpc_777_23 (Source: Primary Care)
Source: Primary Care - February 16, 2024 Category: Primary Care Authors: Chad Richmond Richard Hartfield Leonard Powell Alison Mancuso Source Type: research
Klinefelter syndrome in primary care: A case and review
J Family Med Prim Care. 2023 Dec;12(12):3406-3408. doi: 10.4103/jfmpc.jfmpc_777_23. Epub 2023 Dec 21.ABSTRACTReviewed here is a case of Klinefelter Syndrome (KS) diagnosed by a primary care physician after recognition of key features of KS, confirmed by karyotype, along with a discussion of factors associated with this patient's diagnosis and care. Recognition of the key features of this syndrome is important in order to provide proper screening, risk mitigation and treatment to these patients.PMID:38361885 | PMC:PMC10866248 | DOI:10.4103/jfmpc.jfmpc_777_23 (Source: Primary Care)
Source: Primary Care - February 16, 2024 Category: Primary Care Authors: Chad Richmond Richard Hartfield Leonard Powell Alison Mancuso Source Type: research
Generation of iPSC Cell Lines from Patients with Sex Chromosome Aneuploidies
Methods Mol Biol. 2024;2770:185-200. doi: 10.1007/978-1-0716-3698-5_14.ABSTRACTSomatic cell reprogramming allows the generation of human induced pluripotent stem cells (iPSCs) from patient's cells. The derived iPSCs provide an unlimited source of patient-specific cells that can be virtually differentiated in any cell of the human body. The generation of iPSCs has important implications for all human medicine fields, as they can be used for drug discovery, regenerative medicine, and developmental studies. Klinefelter Syndrome (KS) is the most common chromosome aneuploidy in males. KS is typically characterized by a 47,XXY k...
Source: Mol Biol Cell - February 14, 2024 Category: Molecular Biology Authors: Veronica Astro Antonio Adamo Source Type: research
Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis
Pediatr Res. 2024 Feb 12. doi: 10.1038/s41390-023-02907-5. Online ahead of print.ABSTRACTSkeletal Class III (SCIII) is among the most challenging craniofacial dysmorphologies to treat. There is, however, a knowledge gap regarding which syndromes share this clinical phenotype. The aims of this study were to: (i) identify the syndromes affected by the SCIII phenotype; (ii) clarify the involvement of maxillary and/or mandibular structures; (iii) explore shared genetic/molecular mechanisms. A two-step strategy was designed: [Step#1] OMIM, MHDD, HPO, GeneReviews and MedGen databases were explored; [Step#2]: Syndromic conditions...
Source: Pediatric Research - February 12, 2024 Category: Pediatrics Authors: Maria Cristina Faria-Teixeira Cristina Tordera Francisco Salvado E Silva Ant ónio Vaz-Carneiro Alejandro Iglesias-Linares Source Type: research
Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy
We report the case of a patient who had SBMA coincident with Klinefelter syndrome. He developed SBMA symptoms rapidly after receiving androgen replacement therapy for Klinefelter syndrome. No cases of coincident SBMA and Klinefelter syndrome have been reported, and if confirmed by further patients in future, that androgen hormones are strongly associated with the development and progression of SBMA in fact in humans. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - February 9, 2024 Category: Neurology Source Type: research
Klinefelter syndrome and fire setting behaviors: a case report and scoping review
. (Source: Journal of Forensic Psychiatry and Psychology)
Source: Journal of Forensic Psychiatry and Psychology - January 30, 2024 Category: Psychiatry Authors: Ambra D ’ImperioLuigi Francesco SaccaroJonathan LoMaria MavromatiCamille Jantzia Department of Psychiatry, Hôpitaux Universitaires de Genève, Geneva, Switzerlandb Faculty of Medicine, Institute for History and Ethics of Medicine, Technical University Source Type: research
Male Genetic Evaluation in Infertility, Recurrent Abortion and Recurrent in Vitro Fertilization Failure; A Clinical Approach
CONCLUSION: Although many mutations that can affect male fertility and spermogram have been identified, only a few have clinical predictive value.PMID:38264866 | DOI:10.22037/uj.v20i.8044 (Source: Urology Journal)
Source: Urology Journal - January 24, 2024 Category: Urology & Nephrology Authors: Hamed Akhavizadegan Source Type: research
First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array
CONCLUSION: This study provided the first report on chromosomal abnormalities in Eastern Morocco and it enriched the phenotype spectrum of partial trisomy 13q and further confirmed the genotype-phenotype correlations. Furthermore, these findings justify the need to set up microarray comparative genomic hybridization techniques in Morocco for better genetic diagnosis.PMID:38262863 | DOI:10.1016/j.arcped.2023.10.002 (Source: Archives de Pediatrie)
Source: Archives de Pediatrie - January 23, 2024 Category: Pediatrics Authors: Manal Elidrissi Errahhali Mounia Elidrissi Errahhali Sara Ramdani Saida Lhousni Noufissa Benajiba Maria Rkain Abdeladim Babakhouya Aziza Elouali Ayad Ghanam Rim Amrani Sahar Messaoudi Anass Ayyad Bouchra Oneib Ahmed Mimouni Hanane Saadi Sanae Allaoui Mery Source Type: research
Sex bias in immune response: it is time to include the sex variable in studies of autoimmune rheumatic diseases
AbstractHealthy females and males differ in their immune cell composition and function and females generally mount stronger immune response than males and are much more susceptible to autoimmune rheumatic diseases. Females differ from males in sex hormones, and X-chromosome genes. Sex hormones affect immune cells and responses, and may induce epigenetic DNA changes. The importance of X-chromosome genes is exemplified in men with the Klinefelter syndrome (47,XXY) who have an additional X-chromosome and develop systemic lupus erythematosus(SLE) as frequently as women. X-chromosome contains genes critical for the immune respo...
Source: Rheumatology International - January 20, 2024 Category: Rheumatology Source Type: research
