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Clinical, Biochemical, and Cytogenetic Heterogeneity in Mosaic 46,XX/47,XXY Sex Chromosome Aneuploidy
Sponsor: Université Paris-Saclay
Summary
Mosaic sex chromosome aneuploidy 47,XXY/46,XX is an exceptionally rare variant within the spectrum of Klinefelter syndrome. Available data remain limited, especially regarding adult phenotype and long-term characteristics, and no robust comparative data with non-mosaic 47,XXY Klinefelter syndrome are currently available. This retrospective monocentric comparative study is designed to describe the clinical, biochemical, cytogenetic, gonadal, anthropometric, and socio-professional characteristics of adults with 47,XXY/46,XX mosaicism. In addition, the study is intended to compare these characteristics with those of a homogeneous cohort of individuals with non-mosaic 47,XXY Klinefelter syndrome and with previously published case reports, in order to improve phenotypic characterization of this rare chromosomal condition.
Official title: Clinical, Biochemical and Cytogenetical Heterogeneity in Individuals With Mosaic 46,XX/47,XXY Sex Chromosome Aneuploidy: Results From the MOSAI-XX Multicenter Study
Key Details
Gender
MALE
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
257
Start Date
2022-01-15
Completion Date
2026-01-10
Last Updated
2026-10-21
Healthy Volunteers
No
Conditions
Locations (1)
Bicêtre Hospital (AP-HP), Department of Endocrinology and Reproductive Diseases
Le Kremlin-Bicêtre, France