Results 21 to 30 of about 6,419 (183)

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

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  

Klinefelter Syndrome

Endocrinology Research and Practice, 2013
Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected.
Hande Peynirci, Erdinç Ertürk
doaj   +1 more source

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +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

Diagnostic Testing After Positive Cell‐Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To assess socioeconomic and medical factors associated with prenatal confirmatory diagnostic testing after positive prenatal cell‐free (cfDNA) screening for sex chromosome aneuploidies (SCA) in a diverse contemporary patient cohort.
Blair K. Stevens, Sarah Araji, Mohamad Ali Maktabi, Randy Liu, Lauren Westerfield, Michael Wassef, Dejian Lai, Ignatia B. Van den Veyver, Meera Krishnan, Charlotte Lawrence, Siddharth K. Prakash   +10 more
wiley   +1 more source

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

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

The 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, Ayça Kocayozgat, İnci Yaman-Bajin, Faik Çetindağ, Ayşe Selcen Oğuz-Erdoğan, Altan Güneş   +5 more
doaj   +1 more source

48 / XXYY MALE CASE WITH PRIMARY INFERTILITY

International 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