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
A rare case of adult-onset spastic paraparesis associated with Klinefelter syndrome
The rare association of Klinefelter syndrome and the clinical presentation of a late onset chronic progressive spastic paresis. (Source: BMC Neurology)
Source: BMC Neurology - January 15, 2024 Category: Neurology Authors: Louise Adams and Jan De Bleecker Tags: Case Report Source Type: research
From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes
CONCLUSION: The increase in the number of extra-Xs is associated with a "dose-dependent" progressive impairment in steroid producing glands, thyroid function, cardiac structure, and performance.PMID:38193351 | DOI:10.1210/clinem/dgad730 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - January 9, 2024 Category: Endocrinology Authors: Matteo Spaziani Francesco Carlomagno Chiara Tarantino Francesco Angelini Roberto Paparella Luigi Tarani Carolina Putotto Roberto Badagliacca Carlotta Pozza Andrea M Isidori Daniele Gianfrilli Source Type: research
Risk factors for male breast cancer
Am J Transl Res. 2023 Dec 15;15(12):6918-6925. eCollection 2023.ABSTRACTMale breast cancer (MBC) presents problems with identification of high-risk groups. Risk factors include hepatic dysfunction, high ambient working temperature, exposure to exhaust fumes and obesity, but none identify a group with a high absolute number of MBC cases. The two significant cohorts are BRCA2 mutation carriers and individuals with Klinefelter's syndrome (KS), responsible for up to 15% of cases. Since >90% of male tumours are ER+ve, endocrine intervention is logical with the likely agent being tamoxifen. In terms of an acceptable endocrine...
Source: American Journal of Translational Research - January 8, 2024 Category: Research Authors: Ian S Fentiman Source Type: research
Testosterone replacement therapy in Klinefelter syndrome - follow-up study associating hemostasis and RNA expression
CONCLUSIONS: KS is associated with a specific expression profile contributing to fibrinolytic impairment and increased thrombotic risk in the patients. TRT in KS has potential for alleviating the prothrombotic phenotype, in particular by reducing body fat and fibrinogen.CLINICAL TRIAL REGISTRATION NUMBER: ClinicalTrials.gov NCT02526628, Registered August 18, 2015.PMID:37962976 | DOI:10.1210/clinem/dgad658 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - November 14, 2023 Category: Endocrinology Authors: Simon Chang Jesper Just Anne Skakkeb æk Emma B Johannsen Jens Fedder Claus H Gravholt Anna-Marie B M ünster Source Type: research
Testosterone replacement therapy in Klinefelter syndrome - follow-up study associating hemostasis and RNA expression
CONCLUSIONS: KS is associated with a specific expression profile contributing to fibrinolytic impairment and increased thrombotic risk in the patients. TRT in KS has potential for alleviating the prothrombotic phenotype, in particular by reducing body fat and fibrinogen.CLINICAL TRIAL REGISTRATION NUMBER: ClinicalTrials.gov NCT02526628, Registered August 18, 2015.PMID:37962976 | DOI:10.1210/clinem/dgad658 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - November 14, 2023 Category: Endocrinology Authors: Simon Chang Jesper Just Anne Skakkeb æk Emma B Johannsen Jens Fedder Claus H Gravholt Anna-Marie B M ünster Source Type: research
Leydig cell metabolic disorder act as a new mechanism affecting for focal spermatogenesis in Klinefelter syndrome patients: a real world cross-sectional study base on the age
ConclusionAbnormal metabolism of Leydig cells led to imbalanced expression of INSL3 and androgen receptors, which might be a potential target for spermatogenesis in KS. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - November 1, 2023 Category: Endocrinology Source Type: research
Prevalence and patterns of chromosomal abnormalities in patients suspected of genetic disorders: insights from a study in Ouagadougou, Burkina Faso
CONCLUSION: This this study revealed a high frequency of chromosomal abnormalities, with a predominance of structural abnormalities, among patients suspected of genetic disorders in Ouagadougou. The findings emphasize the significance of genetic evaluation and counseling services in the region, particularly for autosomal abnormalities.PMID:37814033 | DOI:10.1007/s11033-023-08752-3 (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - October 9, 2023 Category: Molecular Biology Authors: Th éodora Mahoukèdè Zohoncon Abdou Azaque Zour é Abdoul Karim Ouattara Franck Bienvenu Zida Marius Belemgn égré Paul Ouedraogo Jacques Simpore Source Type: research
Association of chromosomal abnormalities with prenatal exposure to heavy metals: A nested case-control study in high-risk pregnant women in China
Ecotoxicol Environ Saf. 2023 Sep 28;265:115518. doi: 10.1016/j.ecoenv.2023.115518. Online ahead of print.ABSTRACTPrenatal exposure to heavy metals causes multiple hazards to fetal growth and development. Epidemiological studies on the association between heavy metals and fetal chromosomal abnormalities (CAs) are lacking. We conducted a nested case-control study in a cohort of high-risk pregnant women in China from September 2018 to June 2021. A total of 387 participants were diagnosed with fetal CAs in the case group and 699 were diagnosed with a normal karyotype in the control group. Amniotic fluid concentrations of 10 me...
Source: Ecotoxicology and Environmental Safety - September 30, 2023 Category: Environmental Health Authors: Qianfeng Liu Dan Wang Wen Li Xiaoyu Li Ze Yang Ai Zhang Jiayu He Xu Chen Ying Chang Xi Chen Nai-Jun Tang Source Type: research
In vitro spermatogenesis in artificial testis: current knowledge and clinical implications for male infertility
Cell Tissue Res. 2023 Sep 18. doi: 10.1007/s00441-023-03824-z. Online ahead of print.ABSTRACTMen's reproductive health exclusively depends on the appropriate maturation of certain germ cells known as sperm. Certain illnesses, such as Klinefelter syndrome, cryptorchidism, and syndrome of androgen insensitivity or absence of testis maturation in men, resulting in the loss of germ cells and the removal of essential genes on the Y chromosome, can cause non-obstructive azoospermia. According to laboratory research, preserving, proliferating, differentiating, and transplanting spermatogonial stem cells or testicular tissue could...
Source: Cell Research - September 18, 2023 Category: Cytology Authors: Zahra Bashiri Mazaher Gholipourmalekabadi Farnaz Khadivi Maryam Salem Azita Afzali Tat-Chuan Cham Morteza Koruji Source Type: research
