A case of 48XXYY Klinefelter's syndrome diagnosed with foot ulcers, in a 43-year-old man, is reported. He presented to the Department of Dermatology in our hospital with the chief complaint of recurrent foot ulcers. He was referred to us because of atrophic external genitalia. The present condition and endocrinological examination suggested Klinefelter's syndrome. Chromosomal analysis revealed that his chromosomal type is 48XXYY. This is the 24th case of Klinefelter's syndrome with 48XXYY chromosome and is the 5th case associated with foot ulcers in Japan. Here we report this case together with a brief review of the previously reported cases.
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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 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.
View Article and Find Full Text PDFBiol Sex Differ
December 2024
Department of Internal Medicine, Pulmonary, Critical Care, and Sleep Medicine, Rush University Medical Center, Chicago, IL, 60612, USA.
In humans, the X and Y chromosomes determine the biological sex, XX specifying for females and XY for males. The long noncoding RNA X-inactive specific transcript (lncRNA XIST) plays a crucial role in the process of X chromosome inactivation (XCI) in cells of the female, a process that ensures the balanced expression of X-linked genes between sexes. Initially, it was believed that XIST can be expressed only from the inactive X chromosome (Xi) and is considered a typically female-specific transcript.
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