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Evaluation of sleep disorders in children and adolescents affected by Klinefelter syndrome.
Eur J Pediatr
January 2025
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Unlabelled: Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80-90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading to variability in neurocognitive and psychosocial outcomes among affected individuals. Despite the recognized correlation between KS and various neuropsychiatric conditions, studies investigating potential sleep disorders, particularly in pediatric subjects, are lacking.
View Article and Find Full Text PDFSex Assignment in Cases of Ambiguous Genitalia.
Cureus
November 2024
Department of General Surgery, General Medicine Practice Program, Batterjee Medical College for Science and Technology, Jeddah, SAU.
Ambiguous genitalia is a rare disorder where it is unclear whether an infant's external genitals are male or female. This can be attributed to various internal and external etiologies, such as androgen receptor abnormalities, gonadal abnormalities (such as gonadal dysgenesis or Klinefelter syndrome where a male has an extra X chromosome), enzymatic defects, etc. Correction of such atypical genitalia requires a multidisciplinary approach, including but not limited to surgeons and therapists.
View Article and Find Full Text PDFUltra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.
J Hum Genet
December 2024
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Sex chromosome aneuploidies (SCA) such as Turner, Klinefelter, Jacobs, and Trisomy X syndromes are prevalent genetic disorders with well-established phenotypes. Challenges persist, however, in determining the need for further genetic evaluation in cases of affected individuals exhibiting atypical symptoms. The present study retrospectively examined 54 pediatric patients with an SCA diagnosis at a single institution between January 2015 and December 2023.
View Article and Find Full Text PDFAllelic and haplotype diversity of 12 X-chromosomal short tandem repeats in Koreans, with an analysis of anomalous profiles.
Leg Med (Tokyo)
December 2024
Forensic DNA Section, National Forensic Service Jeju Branch, 221, Cheomdan-ro, Jeju-si, Jeju-do 63309, Republic of Korea; Department of Forensic Medicine, Seoul National University College of Medicine, 103, Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea. Electronic address:
Owing to the unique inheritance pattern of the X chromosome, X-chromosomal short tandem repeat (X-STR) analysis represents a valuable tool in forensic DNA examination-particularly in complex kinship cases, missing person investigations, and disaster victim identification. We analyzed buccal swabs from 429 unrelated Korean males for forensic statistical parameters of 12 X-STRs. Among the 427 individuals analyzed (2 were excluded), DXS10135 was the most informative marker (polymorphism information content [PIC] = 0.
View Article and Find Full Text PDFAnesthesiologic relevance of Klinefelter syndrome - discussion based on a case report.
Korean J Anesthesiol
November 2024
Department of Anesthesiology and Intensive Care Medicine, University Hospital of Giessen and Marburg, Campus Marburg, Marburg, Germany.
Background: Klinefelter syndrome (KS), usually the 47,XXY karyotype, is the most common sex chromosome anomaly in males. However, many cases remain undiagnosed because the clinical presentation is highly variable and physicians are not sufficiently trained to assess for this condition. To the best of our knowledge, only three detailed reports on anesthesia in patients with KS are currently available.
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