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Adriana Herrera Lizarazo, Michelle McLoughlin, Maria G Vogiatzi
PURPOSE OF REVIEW: Klinefelter syndrome is the most common sex chromosome abnormality in men. Hypogonadism and testicular degeneration are almost universal. Truncal adiposity, metabolic syndrome and low bone mass occur frequently. This review summarizes the most recent advances in the pathogenesis and management of the endocrine abnormalities in Klinefelter syndrome. It is expected that optimal endocrine management will improve outcomes and quality of life in Klinefelter syndrome. RECENT FINDINGS: In Klinefelter syndrome, testosterone replacement is routinely prescribed despite lack of evidence on the optimal dose and time for initiation of therapy...
November 30, 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
F Sciarra, M Pelloni, F Faja, F Pallotti, G Martino, A F Radicioni, A Lenzi, F Lombardo, D Paoli
PURPOSE: The aim of this study was to study the incidence of Y chromosome microdeletions in a Caucasian population of Klinefelter syndrome (KS) patients and to investigate the possible association between Y chromosome microdeletions and KS. MATERIALS AND METHODS: We conducted a retrospective study on 118 KS patients, 429 patients with non-obstructive azoospermia (NOA), and 155 normozoospermic men. Eight of the 118 KS patients had undergone testicular sperm extraction (TESE)...
November 29, 2018: Journal of Endocrinological Investigation
Satoru Tsuruta, Norihisa Kimura, Keinosuke Ishido, Daisuke Kudo, Kentaro Sato, Tetsu Endo, Tadashi Yoshizawa, Aoi Sukeda, Nobuyoshi Hiraoka, Hiroshi Kijima, Kenichi Hakamada
BACKGROUND: Calcifying nested stromal epithelial tumor (CNSET) is a primary neoplasm of the liver, characterized by well-demarcated nests consisting of spindle and epithelioid cells with calcification and bone formation. An association of Cushing syndrome with CNSET has drawn attention, but the origin of CNSET has not been clarified. CASE PRESENTATION: We report here the case of a 20-year-old male with Klinefelter syndrome who underwent liver resection for an increasing liver tumor that was pathologically diagnosed with CNSET...
November 19, 2018: World Journal of Surgical Oncology
Anne Skakkebæk, Philip J Moore, Anders Degn Pedersen, Anders Bojesen, Maria Krarup Kristensen, Jens Fedder, Jens Michael Hertz, John R Østergaard, Mikkel Wallentin, Claus Højbjerg Gravholt
Klinefelter syndrome (KS) (47, XXY) is the most common sex chromosome disorder, with a prevalence of 1 in every 660 newborn males. Despite the profound adverse effects of anxiety and depression, and their greater prevalence in KS populations, no research has been conducted to date to identify the determinants of anxiety and depression among patients with KS. We examined the relationships between personality traits, social engagement, and anxiety and depression symptoms among KS patients (n = 69) and a group of male controls (n = 69) matched for age and years of education...
2018: PloS One
David Ferreira, Royston Ponraj, Adrian Yeung, Jillian de Malmanche
Pure red cell aplasia is an uncommon cause of anaemia rarely associated with thymoma. A combination of immunosuppressive therapy and thymectomy offers a potential cure. Thymectomy alone rarely results in anaemia resolution. A seventy-three-year-old male with Klinefelter syndrome presented with progressively increasing shortness of breath and anaemia. Serological testing supported primary bone marrow pathology, and a bone marrow biopsy was performed. A pure red cell aplasia was seen on bone marrow examination, and computed tomography of the chest demonstrated a thymoma...
2018: Case Reports in Hematology
William K Bache, Lynn E DeLisi
The X chromosome has long been an intriguing site for harboring genes that have importance in brain development and function. It has received the most attention for having specific genes underlying the X-linked inherited intellectual disabilities, but has also been associated with schizophrenia in a number of early studies. An X chromosome hypothesis for a genetic predisposition for schizophrenia initially came from the X chromosome anomaly population data showing an excess of schizophrenia in Klinefelter's (XXY) males and triple X (XXX) females...
October 2018: Molecular Neuropsychiatry
Lara C Foland-Ross, Judith L Ross, Allan L Reiss
Klinefelter syndrome (KS, 47,XXY) is the most common sex chromosome aneuploidy in males. A variety of complex clinical needs is associated with KS, including physical, cognitive and psychosocial impairments. Standard treatment for KS consists of androgen replacement therapy in adolescence to offset testosterone deficiency. Such treatment has a beneficial effect on the physical and behavioral manifestations of this syndrome. Whether androgen supplementation has a significant influence on the brain, however, is unknown...
October 2, 2018: Psychoneuroendocrinology
Hui-Yu Xu, Hong-Xian Zhang, Zhen Xiao, Jie Qiao, Rong Li
Anti-Müllerian hormone (AMH) is a functional marker of fetal Sertoli cells. The germ cell number in adults depends on the number of Sertoli cells produced during perinatal development. Recently, AMH has received increasing attention in research of disorders related to male fertility. This paper reviews and summarizes the articles on the regulation of AMH in males and the serum levels of AMH in male fertility-related disorders. We have determined that follicle-stimulating hormone (FSH) promotes AMH transcription in the absence of androgen signaling...
October 26, 2018: Asian Journal of Andrology
Rafael S Yabiku, Mara S Guaragna, Lizandra M de Sousa, Helena Fabbri-Scallet, Taís N Mazzola, Cristiane S C Piveta, Marcela L de Souza, Gil Guerra-Júnior, Maricilda P de Mello, Andréa T Maciel-Guerra
A retrospective cross-sectional study was performed in a DSD clinic at a tertiary service (University Hospital) to estimate the frequency of disorders of sex development (DSD) among men who seek medical care because of infertility. The sample included 84 men >20 years of age referred from 2010-2017 due to oligozoospermia or nonobstructive azoospermia of unknown etiology. Twelve cases (14%) were diagnosed as DSD, including Klinefelter Syndrome, 46,XX testicular DSD, and mild androgen insensitivity syndrome...
October 30, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
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 1, 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
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