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Burcin Erkal, Aysel Kalayci Yigin, Sukru Palanduz, Selcuk Dasdemir, Mehmet Seven
Klinefelter syndrome (KS) is a common sex chromosome-related abnormality seen among men. KS negatively affects spermatogenesis and testosterone production. It increases the risk of thrombosis but its molecular mechanism has not been well described yet. Elevated PAI-1 is a risk factor for thrombosis. The rs1799889 polymorphism located in the promoter region of the PAI-1 gene was detected in patients with deep venous thrombosis. In this study, the PAI-1 gene variant and its plasma levels in KS patients were examined...
November 2018: American Journal of Men's Health
M A Shehab, Tahseen Mahmood, M A Hasanat, Md Fariduddin, Nazmul Ahsan, Mohammad Shahnoor Hossain, Md Shahdat Hossain, Sharmin Jahan
Congenital adrenal hyperplasia (CAH) due to the three-beta-hydroxysteroid-dehydrogenase (3β-HSD) enzyme deficiency is a rare autosomal recessive disorder presenting with sexual precocity in a phenotypic male. Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy presenting with hypergonadotropic hypogonadism in a male. However, only a handful of cases of mosaic KS have been described in the literature. The co-existence of mosaic KS with CAH due to 3β-HSD enzyme deficiency portrays a unique diagnostic paradox where features of gonadal androgen deficiency are masked by simultaneous adrenal androgen excess...
October 13, 2018: Endocrinology, Diabetes & Metabolism Case Reports
Chol-Hee Jung, Daniel J Park, Peter Georgeson, Khalid Mahmood, Roger L Milne, Melissa C Southey, Bernard J Pope
DNA methylation influences predisposition, development and prognosis for many diseases, including cancer. However, it is not uncommon to encounter samples with incorrect sex labelling or atypical sex chromosome arrangement. Sex is one of the strongest influencers of the genomic distribution of DNA methylation and, therefore, correct assignment of sex and filtering of abnormal samples are essential for the quality control of study data. Differences in sex chromosome copy numbers between sexes and X-chromosome inactivation in females result in distinctive sex-specific patterns in the distribution of DNA methylation levels...
October 15, 2018: International Journal of Molecular Sciences
Elizabeth R Francis, Fengming Chen, Michal Kidacki, Ronald Miller, Mo'tasem Alkhasoneh, Giampaolo Talamo, Monica Straub, Kristin Klinefelter, Namratha Kodali, Yusheng Zhu
BACKGROUND: Pseudohyperphosphatemia is a rare laboratory finding in MM, especially in patients with smoldering myeloma (SMM) progressing to symptomatic multiple myeloma (MM). Laboratorians and clinicians should be aware of this phenomenon and take necessary actions to avoid misdiagnosis. METHODS: Specimens from a monoclonal IgG kappa SMM patient with extremely high serum phosphorus concentrations measured by the Roche phosphomolybdate assay were re-evaluated using serial dilutions and the ORTHO VITROS assay free from monoclonal gammaglobulin interference...
October 10, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Lindsay A Williams, Nathan Pankratz, John Lane, Mark Krailo, Michelle Roesler, Michaela Richardson, A Lindsay Frazier, James F Amatruda, Jenny N Poynter
BACKGROUND: Males with Klinefelter syndrome (KS) (47,XXY) may be more likely to develop germ cell tumors (GCTs), particularly mediastinal GCTs. To date, there are no reports characterizing the prevalence of KS among male GCT cases. METHODS: The authors used array genotyping data from a Children's Oncology Group epidemiology study to estimate the prevalence of KS in males with GCTs (433 males aged birth-19 years). Using Fisher's exact tests, the authors examined differences in age at diagnosis, race/ethnicity, tumor location and histology, and several birth characteristics between cases of KS-GCT and GCT cases without chromosomal abnormalities...
October 6, 2018: Cancer
Dorota J Hawksworth, April A Szafran, Philip W Jordan, Adrian S Dobs, Amin S Herati
Male factor infertility is a complex issue presenting many diagnostic and management challenges. It is responsible for about 50% of all causes of infertility and thus carries significant medical, financial, and psychological implications for the couples struggling with conception. Klinefelter syndrome is the most common chromosomal male anomaly associated with male infertility. This review focuses specifically on non-obstructive azoospermia secondary to Klinefelter syndrome and discusses controversies surrounding fertility management in patients with this genetic disorder...
2018: Reviews in Urology
Matthew A Cornacchia, Samay Bhushan, Raul Arguello
Familial male-limited precocious puberty (FMPP) is an autosomal dominant, male-limited disorder that causes peripheral precocious puberty in boys. Klinefelter syndrome (47, XXY) is the most common chromosomal aberration in males with associated infertility, hypogonadism, and learning disability. We report here a case of Klinefelter syndrome in a patient with FMPP. A 6-year-old boy was referred to our pediatric endocrinology department for accelerated linear growth and premature pubic hair development. He was diagnosed with FMPP based on clinical, laboratory, and genetic sequencing...
October 1, 2018: Journal of the Endocrine Society
Mélanie Souyris, José E Mejía, Julie Chaumeil, Jean-Charles Guéry
Women develop stronger immune responses than men, with positive effects on the resistance to viral or bacterial infections but magnifying also the susceptibility to autoimmune diseases like systemic lupus erythematosus (SLE). In SLE, the dosage of the endosomal Toll-like receptor 7 (TLR7) is crucial. Murine models have shown that TLR7 overexpression suffices to induce spontaneous lupus-like disease. Conversely, suppressing TLR7 in lupus-prone mice abolishes SLE development. TLR7 is encoded by a gene on the X chromosome gene, denoted TLR7 in humans and Tlr7 in the mouse, and expressed in plasmacytoid dendritic cells (pDC), monocytes/macrophages, and B cells...
October 1, 2018: Seminars in Immunopathology
Dianne F Newbury, Nuala H Simpson, Paul A Thompson, Dorothy V M Bishop
Background : The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. The 'double hit' hypothesis proposes that the adverse impact of the extra sex chromosome is amplified when genes that are expressed from the sex chromosomes interact with autosomal variants that usually have only mild effects. We predicted that the impact of an additional sex chromosome on neurodevelopment would depend on common autosomal variants involved in synaptic functions...
2018: Wellcome Open Research
Fabrizio Pappalardo, Emanuele Cozzani, Augusto Gallino, Carlo Mainetti
No abstract text is available yet for this article.
September 24, 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
J Palma, P-Y Sarron, V Camus, W El-Hage
BACKGROUND: Several studies have reported over-representation of psychiatric disorders among patients with Klinefelter' Syndrome (KS), with forensic complications. OBJECTIVE: Consider determinants of sexual assault in patient with KS. REVIEW: In this work, we present the case of Jules, 23 years old, with KS, benefiting from steroid replacement therapy, convicted of rape of a minor and evaluated in this context. We question here the role of his genetic pathology and of his hormonal treatment in this sexual assault...
September 20, 2018: L'Encéphale
Douglas A Canning
No abstract text is available yet for this article.
October 2018: Journal of Urology
Yuenshan Sammi Wong, Yuk Him Tam, Kristine Kit Yi Pang, Ho Chung Yau
BACKGROUND: Evidence-based guidelines on evaluation of boys with proximal hypospadias for the possibility of a disorder of sex development (DSD) have yet to be developed. We aimed to investigate the incidence and diagnoses of DSD in patients with proximal hypospadias. METHODS: We retrospectively reviewed the records of consecutive boys who underwent proximal hypospadias repairs from 2006 to Sept 2017. Data collected included scrotal anomaly, testes position/palpability, micropenis, DSD investigations, and surgical techniques...
September 1, 2018: Journal of Pediatric Surgery
Pedro Marques, David Collier, Ariel Barkan, Márta Korbonits
Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are present in 15-30% of familial isolated pituitary adenoma (FIPA) families, and are responsible for 30% of pituitary gigantism cases (1). However, pathological accelerated growth and/or tall stature can be unrelated to the growth hormone (GH) axis, and may occur in isolation or as part of a syndrome, such as in Klinefelter, Marfan or Sotos syndromes (2). Here, we report a five-generation kindred with two brothers with pituitary gigantism due to AIP mutation-positive GH-secreting pituitary adenomas and their first-cousin coincidently also having gigantism due to Marfan syndrome (Figure 1)...
September 17, 2018: Clinical Endocrinology
R Ballegeer, K Demyttenaere, W Simons
BACKGROUND Klinefelter syndrome (ks) is the most common type of sex chromosome aneuploidy and is associated with psychiatric comorbidities. ks is only diagnosed in less than half of the cases due to the heterogeneous phenotype.<br/> AIM: This study investigates the prevalence of secondary psychiatric diseases and their treatment in ks patients.<br/> METHOD: Relevant articles were identified using the PubMed database. We included articles published in the last ten years, concerning ks patients who were assessed for comorbidities...
2018: Tijdschrift Voor Psychiatrie
Anne Skakkebæk, Morten Muhlig Nielsen, Christian Trolle, Søren Vang, Henrik Hornshøj, Jakob Hedegaard, Mikkel Wallentin, Anders Bojesen, Jens Michael Hertz, Jens Fedder, John Rosendahl Østergaard, Jakob Skou Pedersen, Claus Højbjerg Gravholt
Klinefelter syndrome (KS) has a prevalence ranging from 85 to 250 per 100.000 newborn boys making it the most frequent sex chromosome aneuploidy in the general population. The molecular basis for the phenotypic traits and morbidity in KS are not clarified. We performed genome-wide DNA methylation profiling of leucocytes from peripheral blood samples from 67 KS patients, 67 male controls and 33 female controls, in addition to genome-wide RNA-sequencing profiling in a subset of 9 KS patients, 9 control males and 13 female controls...
September 13, 2018: Scientific Reports
Ryo Sasaki, Yasuyuki Ohta, Yoshiaki Takahashi, Keiichiro Tsunoda, Koh Tadokoro, Kota Sato, Jingwei Shang, Mami Takemoto, Nozomi Hishikawa, Toru Yamashita, Koji Abe
Klinefelter syndrome is a chromosomal disorder with a typical karyotype of 47, XXY, accompanied by various neurological symptoms. We herein report the first case of Klinefelter syndrome with a rare mosaic form of 47, XXY and 48, XXXY, combined with both spastic paraplegia and peripheral motor neuropathy. This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities. A motor nerve conduction study and the magnetic motor evoked potential suggested motor axonal neuropathy and corticospinal tract disorders...
September 12, 2018: Internal Medicine
Michaela Katja Stangl, Wolfgang Böcker, Vladimir Chubanov, Uta Ferrari, Michael Fischereder, Thomas Gudermann, Eric Hesse, Peter Meinke, Martin Reincke, Nicole Reisch, Maximilian M Saller, Jochen Seissler, Ralf Schmidmaier, Benedikt Schoser, Cornelia Then, Barbara Thorand, Michael Drey
Sarcopenia in geriatric patients is often associated with or even caused by changes of the endocrine and nervous system. The multifactorial pathogenesis of sarcopenia and additional multimorbidity in geriatric patients makes it difficult to study distinct pathogenic pathways leading to sarcopenia. Patients suffering from diabetes, Cushing's syndrome, chronic kidney disease, Klinefelter's syndrome or motor neuron diseases, such as amyotrophic lateral sclerosis for example are known to have impaired muscle property and reduced physical performance...
September 10, 2018: Experimental and Clinical Endocrinology & Diabetes
Sakurai Teruaki, Iizuka Katsumi, Kato Takehiro, Takeda Jun
A 60-year-old male patient with type 1 diabetes mellitus (T1DM) was admitted for glycemic control. The patient exhibited abdominal adiposity, osteoporosis, and high insulin requirement (>100 U), and we suspected hypogonadism. A physical examination revealed small testes and thin pubic hair, laboratory examination found high LH and FSH levels and low testosterone levels, and a chromosome analysis (47, XXY) indicated hypogonadism due to Klinefelter syndrome (KS). KS is associated with autoimmune diseases and patients positive for diabetes related auto-antibodies...
August 24, 2018: Internal Medicine
Ganiyu O Oseni, Deepti Jain, Peter A Mossey, Tamara D Busch, Lord J J Gowans, Mekonen A Eshete, Wasiu L Adeyemo, Cecelia A Laurie, Cathy C Laurie, Arwa Owais, Peter B Olaitan, Babatunde S Aregbesola, Fadekemi Oginni, Saidu A Bello, Peter Donkor, Rosemary Audu, Chika Onwuamah, Solomon Obiri-Yeboah, Gyikua Plange-Rhule, Olugbenga M Ogunlewe, Olutayo James, Taiye Halilu, Firke Abate, Lukman O Abdur-Rahman, Abimbola V Oladugba, Mary L Marazita, Jeffrey C Murray, Adebowale A Adeyemo, Azeez Butali
BACKGROUND: Orofacial clefts are the most common malformations of the head and neck region. Genetic and environmental factors have been implicated in the etiology of these traits. METHODS: We recently conducted genotyping of individuals from the African population using the multiethnic genotyping array (MEGA) to identify common genetic variation associated with nonsyndromic orofacial clefts. The data cleaning of this dataset allowed for screening of annotated sex versus genetic sex, confirmation of identify by descent and identification of large chromosomal anomalies...
August 23, 2018: Molecular Genetics & Genomic Medicine
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