Results 11 to 20 of about 6,419 (183)

Association of Parental Origin with Clinical Profile in Klinefelter Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2015
Introduction: Several genomic imprinting mechanisms have been postulated to report the parent-of-origin in Klinefelter syndrome. It was stated in the literature, parental origin has an effect on behavioral phenotype of Klinefelter individuals, but the
Ranganath Vallabhajosyula, Sayee Rajangam, Lalitha C.   +2 more
doaj   +1 more source

New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY

Endocrine Connections, 2023
The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12–14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We
Claus H Gravholt, Alberto Ferlin, Joerg Gromoll, Anders Juul, Armin Raznahan, Sophie van Rijn, Alan D Rogol, Anne Skakkebæk, Nicole Tartaglia, Hanna Swaab   +9 more
doaj   +1 more source

Unusual presentation of Klinefelter syndrome

Indian Journal of Endocrinology and Metabolism, 2013
Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele.
Chanchal Das, Pranab Kumar Sahana, Nilanjan Sengupta, Mukut Roy, Ranen Dasgupta   +4 more
doaj   +1 more source

Osteoporosis in Klinefelter's syndrome [PDF]

Molecular Human Reproduction, 2010
Hypogonadism represents one of the most important causes of male osteoporosis. Testosterone regulates male bone metabolism both indirectly by aromatization to estrogens and directly through the androgen receptor (AR) on osteoblasts, promoting periosteal bone formation during puberty and reducing bone resorption during adult life.
FERLIN, ALBERTO, SCHIPILLITI M, DI MAMBRO A, VINANZI C, FORESTA, CARLO   +4 more
openaire   +4 more sources

Combination of Klinefelter syndrome and celiac disease: A case report

Molecular Genetics and Metabolism Reports, 2017
Klinefelter syndrome (KS) is a chromosomal abnormality characterised by a 47, XXY karyotype associated with hypogonadism and infertility. We present a case of a 20-year-old patient who applied to our clinic because of growth deficiency and was ...
Ahmed Ramiz Baykan
doaj   +1 more source

Tremor and Klinefelter’s Syndrome

Tremor and Other Hyperkinetic Movements, 2015
Background: Klinefelter’s syndrome (KS) has been associated with tremor, but reports on tremor phenomenology and treatment are limited. Case Reports: Patient 1 is a 17‐year‐old male with a dystonic tremor treated with deep brain stimulation (DBS).
Rabin, Marcie L., Jabbari, Bahman, Mittal, Shivam O.   +2 more
openaire   +5 more sources

Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis

Molecular Cytogenetics, 2022
Background Klinefelter syndrome is a common chromosomal (aneuploidy) disorder associated with an extra X chromosome in males. Regardless of numerous studies dedicated to somatic gonosomal mosaicism, Klinefelter syndrome mosaicism (KSM) has not been ...
Svetlana G. Vorsanova, Irina A. Demidova, Alexey D. Kolotii, Oksana S. Kurinnaia, Victor S. Kravets, Ilya V. Soloviev, Yuri B. Yurov, Ivan Y. Iourov   +7 more
doaj   +1 more source

Rare 48, XYYY syndrome: case report and review of the literature

Clinical Case Reports, 2018
Key Clinical Message 48, XYYY syndrome is a rare condition. A male with 32‐year‐old and three Y chromosomes is described. This syndrome is phenotypically similar to Klinefelter syndrome.
Maryam Abedi, Arash Salmaninejad, Ebrahim Sakhinia   +2 more
doaj   +1 more source

An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations

Indian Journal of Endocrinology and Metabolism, 2012
48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders.
Prasad Katulanda, J. Rasika D. K. Rajapakse, Jayani Kariyawasam, Rohan Jayasekara, Vajira H. W. Dissanayake   +4 more
doaj   +1 more source

Phenotype Manifestations of Polysomy X At Males

Biomolecules & Biomedicine, 2008
Klinefelter Syndrome is the most frequent form of male hypogonadism. It is an endocrine disorder based on sex chromosome aneuploidy. Infertility and gynaecomastia are the two most common symptoms that lead to diagnosis. Diagnosis of Klinefelter syndrome
Amra Ćatović
doaj   +1 more source