Results 41 to 50 of about 1,228,636 (220)

Data from: Altered thyroid feedback in Klinefelter syndrome: a cohort study from infancy through adulthood.

, 2023
Supplementary material concerning data from: Altered thyroid feedback in Klinefelter syndrome: a cohort study from infancy through adulthood.
Riccardo Pofi (737099), Alessia Aureli (15250273), Carlotta Pozza (8859986), Roberto Paparella (15250363), Francesco Carlomagno (11251008), Emilia Sbardella (413155), Maria Angela De Stefano (15250458), Daniele Gianfrilli (737098), Marianna Minnetti (15250068), Matteo Spaziani (15250246), Andrea M. Isidori (737102), Antonella Anzuini (15250323), Francesco Angelini (477379), Luigi Tarani (8976917), Tommaso Porcelli (15250431)   +14 more
core   +1 more source

A Unique Intersection: Exploring Cerebral Anomalies in Klinefelter Syndrome [PDF]

Iranian Journal of Neonatology
Background: Klinefelter syndrome (KS) is the most prevalent sex-chromosome aberration and the leading genetic cause of male hypogonadism. This chromosomal anomaly results in male hypergonadotropic hypogonadism, androgen deficiency, impaired ...
Aslan Ahmadi, Mohammad Hossein Torkan, Ayda Sanaei, Reza Naseri   +3 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

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 emotion regulation hypothesis of social dysfunction in Klinefelter syndrome.

, 2014
The emotion regulation hypothesis of social dysfunction in Klinefelter syndrome.
Stephanie van Goozen (506883), Sophie van Rijn (350492), Marjolein Barendse (506882), Hanna Swaab (248038)   +3 more
core   +1 more source

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