Results 41 to 50 of about 6,419 (183)

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

Andrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

Psychiatric symptoms in Klinefelter’s syndrome: A case report

Psychiatry and Clinical Psychopharmacology, 2021
Klinefelter’s syndrome is a relatively common hereditary disease. Psychiatric symptoms are often seen beside of typical physical features. In this case report, diagnostic process of a 30 year old Klinefelter’s syndrome with patient who had been admitted
Ozan Pazvantoğlu, Tuncer Okay, Nesrin Dilbaz, Kanay Yararbaş, Işık Bökesoy   +4 more
doaj  

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men

Asian Journal of Andrology, 2015
Klinefelter syndrome and Y-chromosomal microdeletion analyses were once the only two genetic tests offered to infertile men. Analyses of aurora kinase C (AURKC) and DPY19L2 are now recommended for patients presenting macrozoospermia and globozoospermia ...
Leyla Ounis, Abdelali Zoghmar, Charles Coutton, Leila Rouabah, Maroua Hachemi, Delphine Martinez, Guillaume Martinez, Ines Bellil, Douadi Khelifi, Christophe Arnoult, Julien Fauré, Sebti Benbouhedja, Abdelkader Rouabah, Pierre F Ray   +13 more
doaj   +1 more source

Klinefelter’s syndrome and taurodontism

Archivio Italiano di Urologia e Andrologia, 2019
Objective: Taurodontism is a dental anomaly characterized by an enlarged pulp chamber and apycal displacement of the pulpar floor. The prevalence of taurodontism in normal population is controversial. It has been reported that taurodontism is frequently observed in Klinefelter’s patients.
Emilia, Giambersio, Vincenzo, Barile, Antonio Marcello, Giambersio   +2 more
openaire   +3 more sources

Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in Klinefelter Syndrome: A Multivariable Analysis

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS) is characterized by marked phenotypic heterogeneity that might be influenced by genetic modifiers, including androgen receptor (AR) repeat length (CAGn and GGCn). The clinical relevance of these repeat lengths in patients with KS before testosterone replacement therapy (TRT) remains unclear.
Andrea Graziani, Alberto Scala, Maria Santa Rocca, Cinzia Vinanzi, Giuseppe Grande, Andrea Di Nisio, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +8 more
wiley   +1 more source

The Influence of Parenting Style on Neurocognitive Development of Children With an Extra X or Y Chromosome: A Prospective 1‐Year Follow‐Up Study

Andrology, EarlyView.
ABSTRACT Background As sex chromosome trisomies (SCTs), including 47, XXX, 47, XXY, and 47, XYY, are associated with increased risk for neurodevelopmental challenges, studying SCTs may help in understanding the role of early parental caregiving in shaping neurodevelopmental phenotypes of this genetically at‐risk population.
Sophie van Rijn, Nienke Bouw, Kimberly Kuiper, Evelien Urbanus, Hanna Swaab   +4 more
wiley   +1 more source

Increased Mortality in Klinefelter Syndrome [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2004
Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in man and is a common cause of hypogonadism. To describe mortality in KS, we conducted an epidemiological study, using Danish registers covering the entire nation. We constructed a cohort of 781 Danish boys and men diagnosed with KS (from the Danish Cytogenetic Central Register ...
Bojesen, Anders, Juul, Svend, Birkebaek, Niels, Gravholt, Claus H; id_orcid 0000-0001-5924-1720   +3 more
openaire   +4 more sources

Association Between FTO rs1558902 Polymorphism, Age‐Related Hypogonadism, and Central Obesity in Japanese Men

Andrology, EarlyView.
ABSTRACT Background Obesity and low testosterone levels are closely interconnected, with the FTO gene being the most robust genetic determinant of body mass index (BMI). However, whether this primary genetic driver of obesity directly influences the hypothalamic‐pituitary‐testicular (HPT) axis remains unclear.
Takahiro Tsutsumi, Hideyuki Okuma, Fuminori Kazama, Masumi Endo, Yuna Takato, Hitomi Nara, Asako Miyazaki, Nozomi Harai, Kyoichiro Tsuchiya   +8 more
wiley   +1 more source

Impact of FSHB and FSHR Genes Polymorphisms on Hormonal Profile and Sperm Retrieval Outcome in Men With Klinefelter Syndrome: A Clinical–Genetic Predictive Study

Andrology, EarlyView.
ABSTRACT Background Genetic variability within the follicle‐stimulating hormone (FSH)‐related genes might contribute to phenotypic heterogeneity in patients with Klinefelter syndrome (KS), yet its clinical impact on sperm retrieval remains unclear. Objectives To investigate the association between FSHB c.211 G > T and FSHR polymorphisms (c.2039 A > G ...
Andrea Graziani, Giuseppe Grande, Maria Santa Rocca, Massimo Iafrate, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +6 more
wiley   +1 more source

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source