Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome. Scores of 31 XXY men on the Scale for Interpersonal Behavior and the Autism Spectrum Questionnaire were compared to 24 and 20 control men respectively. XXY men reported increased distress during social interactions and less engagement in specific social behaviors. In the XXY group, levels of autism traits were significantly higher across all dimensions of the autism phenotype. These findings call for a clinical investigation of vulnerability to autism in Klinefelter syndrome. Klinefelter syndrome might serve as a model for studying a role of the X chromosome in social behavioral dysfunction and autism-like behavior.
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http://dx.doi.org/10.1007/s10803-008-0542-1 | DOI Listing |
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 PDFJ 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 PDFmedRxiv
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.
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 PDFLeg 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.
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