Results 71 to 80 of about 1,228,636 (220)

Dizygotic twin pseudochimaerism initially diagnosed as mosaic Klinefelter syndrome on microarray: case report

open access: yesBMJ Connections Clinical Genetics and Genomics
Background Chimaerism is a rare genetic condition where an individual possesses two or more distinct cell lines originating from different zygotes. This case report highlights the diagnostic challenge presented by pseudochimaerism in a patient initially ...
Declan O’Rourke   +4 more
doaj   +1 more source

Klinefelter syndrome in children and adolescents: combination of genetics and endocrinology

open access: yesMìžnarodnij Endokrinologìčnij Žurnal, 2019
The purpose was to analyze literature on the etiology and pathogenesis of Klinefelter syndrome (KS). The review of scientific literature regarding KS by the key words “Klinefelter syndrome”, Klinefelter-Reifenstein-Albright syndrome”, “pubertal ...
T.V. Sorokman   +2 more
doaj   +1 more source

Children Born Using Ejaculated Sperm From Men With Klinefelter Syndrome. Is Sperm Production Associated With Testicular Volume?

open access: yesAndrology, EarlyView.
ABSTRACT Background A large number of children have been born using testicular sperm from men with Klinefelter syndrome (KS), whereas reports of children conceived using ejaculated sperm are rare. Objective To review all published cases of children conceived using ejaculated sperm from men with KS, assess their health and karyotype, and evaluate ...
Jens Fedder, Freja Sørensen
wiley   +1 more source

Bone Health and Aging in Klinefelter Syndrome

open access: yesAndrology, EarlyView.
ABSTRACT Klinefelter syndrome (KS) is typically diagnosed in young adults, but advances in prenatal testing have led to its recognition at a much earlier age. Conversely, diagnosis in late adulthood remains uncommon, but still occurs. Independently from the age at diagnosis, KS individuals now receive more accurate and tailored care management than in ...
Filippo Vignali   +4 more
wiley   +1 more source

The Need for a Global Registry for Charting the Natural History of Klinefelter Syndrome

open access: yesAndrology, EarlyView.
ABSTRACT Background Although Klinefelter Syndrome (KS) represents the most common sex chromosome aneuploidy, several gaps in knowledge persist regarding optimal management of individuals with this condition. Individuals with KS can have a diverse phenotype including endocrine, neurodevelopmental, and cardiovascular manifestations.
Malika Alimussina   +13 more
wiley   +1 more source

A KING for Klinefelter Syndrome: THe SIAMS task force

open access: yes, 2016
The abstract deal with the activity of the KING group which belongs from the Italian Society of Andrology and Sexual Medicine (SIAMS) and is devoted to the study of Klinefelter ...
Maggi, M.   +16 more
core  

Fire-Setting Behavior in Individuals With Klinefelter Syndrome

open access: yes, 1988
Klinefelter syndrome is a sex chromosome disorder with an incidence of approximately two per 1,000 male newborns.1 Eighty percent of individuals with Klinefelter syndrome are 47,XXY, whereas the other 20% have a variant sex chromosomal constitution with ...
Sulkes, Stephen, Miller, Marvin E.
core   +2 more sources

A rare case of multiple impacted teeth in a Klinefelter patient

open access: yesJournal of Craniomaxillofacial Research, 2015
Klinefelter syndrome includes a group of chromosomal disorders with at least one  additional  X  chromosome  in  male  karyotype  (46,XY).  Up  to  now, different dental manifestations such as taurodontism, congenital absence of permanent teeth, shovel ...
Alireza Parhiz
doaj  

Multidimensional Determinants of Quality of Life in Men With Klinefelter Syndrome: A Narrative Review of Workshop Evidence

open access: yesAndrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS), typically characterized by a 47, XXY karyotype, is the most common sex chromosomal aneuploidy in males, with a prevalence of approximately one in 600–660 individuals. Despite its frequency, the syndrome remains significantly underdiagnosed, with 50%–75% of affected individuals never receiving a clinical ...
Francesca Allosso   +2 more
wiley   +1 more source

Primary Extragonadal Germ Cell Tumors in Klinefelter Syndrome: 10-Years of Experience from a Single Institute

open access: yesClinical Pediatric Hematology-Oncology, 2020
Background : : Approximately 8% of male patients presenting with primary mediastinal germ cell tumors (GCTs) have Klinefelter syndrome (KS), while patients diagnosed with retroperitoneal GCTs also exhibit a range of chromosomal abnormalities.
Yura Kim   +5 more
doaj   +1 more source

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