Klinefelter's syndrome is the most common chromosomal disorder associated with testicular dysfunction and male infertility. Those affected by Klinefelter's syndrome are at increased risk of systemic lupus erythematosus, breast cancer, non-Hodgkin's lymphoma, and lung cancer. Nephrotic syndrome in association with Klinefelter's syndrome has never been reported in the literature.
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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 PDFMarginal zone lymphoma of mucosa associated lymphoid tissue-lymphoma of the lacrimal gland in a young patient with Klinefelter syndrome: a case report.
J Med Case Rep
December 2024
Ministry of Health, Riyadh, Saudi Arabia.
Background: Klinefelter syndrome is considered one of the most common sex chromosome disorders affecting males. The presence of an extra X chromosome can alter the tendency to develop various cancers, including lymphomas. Lacrimal gland lymphoma is a disease of the elderly, with a median age of presentation of 70 years.
View Article and Find Full Text PDFTestosterone Effects on Short-Term Physical, Hormonal, and Neurodevelopmental Outcomes in Infants with 47,XXY/Klinefelter Syndrome: The TESTO Randomized Controlled Trial.
medRxiv
December 2024
Department of Pediatrics, Section of Endocrinology, University of Colorado SOM, Aurora, Colorado, USA.
Context: 47,XXY/Klinefelter syndrome (XXY) is associated with impaired testicular function and differences in physical growth, metabolism, and neurodevelopment. Clinical features of XXY may be attributable to inadequate testosterone during the mini-puberty period of infancy.
Objective: We tested the hypothesis that exogenous testosterone treatment positively effects short-term physical, hormonal, and neurodevelopmental outcomes in infants with XXY.
Ultra-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.
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