Results 31 to 40 of about 14,603 (207)

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

open access: yesUrology 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   +6 more
doaj   +1 more source

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]

open access: yes, 2015
Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J   +13 more
core   +2 more sources

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

open access: yesIndian 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   +2 more
doaj   +1 more source

Phenotype Manifestations of Polysomy X At Males

open access: yesBiomolecules & 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

63 Clinical & Cytological Study on Klinefelter Syndrome

open access: yesJK 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   +2 more
doaj  

48 / XXYY MALE CASE WITH PRIMARY INFERTILITY

open access: yesInternational Journal of Health Services Research and Policy, 2020
Klinefelter syndrome is a sex chromosomal aneuploidies with at least one extra X chromosome than normal male karyotype. The classic form of the 47 / XXY karyotype, the incidence of this syndrome is one in 500-1000 live male births.
Mahmut BALKAN
doaj   +1 more source

Novas perspectivas no diagnóstico do hipogonadismo pediátrico masculino: a importância do AMH como marcador de células de Sertoli [PDF]

open access: yes, 2011
Sertoli cells are the most active cell population in the testis during infancy and childhood. In these periods of life, hypogonadism can only be evidenced without stimulation tests, if Sertoli cell function is assessed.
Grinspon, Romina, Rey, Rodolfo Alberto
core   +2 more sources

Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders [PDF]

open access: yes, 2017
Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. This condition is associated with much comorbidity and with a lower life expectancy.
Calogero, A. E.   +8 more
core   +1 more source

A synchronous occurrence of bifocal intracranial germinoma and bilateral testicular epidermoid cyst in an adolescent patient with Klinefelter`s syndrome

open access: yesThe Turkish Journal of Pediatrics, 2019
Klinefelter syndrome (KS) is characterized by an additional X chromosome in males leading to a karyotype of 47,XXY. It is associated with an increased risk of certain malignancies, including leukemia, breast cancer and extragonadal germ cell tumor such ...
Derya Özyörük   +5 more
doaj   +1 more source

Psychological and Behavioral Characteristics of Chromosomal Anomalies and Congenital Contiguous Gene Syndrome [PDF]

open access: yes, 2015
Congenital anomalies exert significant impact on individuals and their families, with particularly negative effects on their quality of life. However, studies focusing on the psychological and behavioral characteristics of children with congenital ...
Diez, Higa Midory   +3 more
core   +1 more source

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