Results 21 to 30 of about 1,142,251 (222)

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

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

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

A case report of Klinefelter syndrome with Schizophrenia-like psychosis and seizure disorder

Indian Journal of Psychological Medicine, 2015
Klinefelter syndrome is a disorder of variation of sex chromosome, the most common karyotype being 47XXY. Multiple case reports and articles have been published linking the increased prevalence of psychiatric disorders like Schizophrenia ...
Anu Rita Jayaraman, Maithreyi Poguri, Nambi Siva   +2 more
doaj   +1 more source

Micro-dissection testicular sperm extraction in Klinefelter's syndrome patients, King Faisal Specialist Hospital and Research Center, Riyadh experience

Urology Annals, 2022
Background: In Klinefelter's syndrome patients with azoospermia, microscopic testicular sperm extraction (m-TESE) can be proposed as a therapeutic option.
Abdulmalik H Almardawi, Rabea Akram, Yara Kattan, Shaheed Saleh Al Suhaibani, Hamed AlAli, Said Kattan, Naif Al Hathal   +6 more
doaj   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

63 Clinical & Cytological Study on Klinefelter Syndrome

JK Science, 2022
Klinefelter Syndrome is a chromosomal disorder with addition of X sex chromosome (47XXY) in males. A patient attended to our hospital with loss of secondary sexual characteristics and male infertility.
Siddanagouda M Biradar, Rudragouda S Bulagouda, Gurushantappa Kadakol   +2 more
doaj  

The use of deidentified organ donor testes for research

Andrology, EarlyView.
Abstract Our knowledge of testis development and function mainly comes from research using mammalian model organisms, primarily the mouse. However, there are integral differences between men and other mammalian species regarding cellular composition and expression profiles during fetal and post‐natal testis development and in the mature testis ...
Marina V. Pryzhkova, Marnie W. Skinner, Juliana I. Candelaria, Stephen R. Wellard, Philip W. Jordan   +4 more
wiley   +1 more source