Results 41 to 50 of about 1,142,251 (222)

Marginal zone lymphoma of mucosa associated lymphoid tissue-lymphoma of the lacrimal gland in a young patient with Klinefelter syndrome: a case report

Journal of Medical Case Reports
Background Klinefelter syndrome is considered one of the most common sex chromosome disorders affecting males. The presence of an extra X chromosome can alter the tendency to develop various cancers, including lymphomas.
Askar K. Alshaibani, Reem R. Alanazi, Bedour Akif Aleid, Saad M. Alosaimi   +3 more
doaj   +1 more source

Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy

Frontiers in Neurology
Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the androgen receptor (AR) gene.
Haruna Akanuma, Suguru Kadowaki, Kazuaki Kanai   +2 more
doaj   +1 more source

Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report

Molecular Cytogenetics, 2022
Background Hemophilia A is considered one of the most common severe hereditary disorders. It is an X-linked recessive disease caused by a deficiency or lack of function of the blood clotting factor VIII.
Anibal Gaviria, Santiago Cadena-Ullauri, Francisco Cevallos, Patricia Guevara-Ramirez, Viviana Ruiz-Pozo, Rafael Tamayo-Trujillo, Elius Paz-Cruz, Ana Karina Zambrano   +7 more
doaj   +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

The Number of X Chromosomes Influences Inflammatory Cytokine Production Following Toll-Like Receptor Stimulation

Frontiers in Immunology, 2019
Sex differences are observed in the evolution of numerous inflammatory conditions. Women exhibit better clinical courses compared to men in acute inflammatory processes, yet worse prognosis in several chronic inflammatory diseases.
Nicolas Lefèvre, Nicolas Lefèvre, Francis Corazza, Joseph Valsamis, Anne Delbaere, Viviane De Maertelaer, Jean Duchateau, Georges Casimir, Georges Casimir   +8 more
doaj   +1 more source

A Rare Case Report of Inguinal Hernia with Persistent Mullerian Duct and Klinefelter Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2016
Inguinal hernia in male is a common problem but having female reproductive organs in hernial sac is rare. It occur because of failure of mullerian duct to regress in a male fetus during embryonic development, result in a syndrome known as Persistent ...
Darpan Dadheech, Prabha Om, Sharma Ankit Shridatt, Ankur Patni, Naveen Verma   +4 more
doaj   +1 more source

Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review

, 2022
OBJECTIVE: Previous studies have suggested a higher prevalence of Klinefelter syndrome amongst transgender individuals. We undertook a systematic review to determine the prevalence of Klinefelter syndrome amongst transgender individuals presumed male at ...
Nolan, BJ, Cheung, Ada S., Liang, Bonnie, Nolan, Brendan J., Liang, B, Cheung, AS   +5 more
core   +1 more source

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

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