ECE2024 Poster Presentations Reproductive and Developmental Endocrinology (45 abstracts)
Clinical, biological and socio-professional characteristics of patients harboring the 46,XX/47,XXY mosaic sex chromosome aneuploidy: the MOSAI-XX multicenter study
Nadia Zaegel 1,2 , Ingrid Plotton 3 , Morel Bouvattier Claire 1,4 , Fanny Chasseloup 1,4 , Jean-Christophe Maiza 5 , Olivier Vanakker 6 , Peter Kamenicky 1,2 , Sylvie Salenave 1,2 , Tosca Lucie 7 , Nathalie Veyt 8 , Jacques Young 1,2 & Luigi Maione 1,2
1Université Paris-Saclay, Inserm UMR-S 1185, Physiologie et Physiopathologie Endocriniennes, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicetre, France; 2Service d’Endocrinologie et des Maladies de la Reproduction, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Le Kremlin Bicetre, France; 3Service de médecine et de la reproduction, Hospices Civils de Lyon, Université Claude Bernard Lyon1, U1208, Lyon, France; 4Service d’Endocrinologie Pédiatrique, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Le Kremlin Bicetre, France; 5Service d’Endocrinologie-Maladies Métaboliques, Chu Saint Pierre, La Reunion, France; 6Center for Medical Genetics Ghent University Hospital, GHENT, Belgium; 7Assistance Publique-Hôpitaux de Paris, Hôpital Antoine Béclère, Service d’Histologie-Embryologie-Cytogénétique, Université Paris-Saclay, Clamart, France; 8ASO Klinische Genetica Centrum Menselijke Erfelijkheid Leuven, Leuven, Belgium
Background: Sex chromosome mosaic aneuploidy 46,XX/47,XXy (mKS-XX) is a very rare syndrome, with only twenty-one cases previously reported. No patients’ series with mKS-XX and no comparative studies between mKS-XX and the common homogeneous Klinefelter syndrome (KS) have so far been described.
Aims: To describe the clinical, biological and socio-professional characteristics of the first series of previously unpublished patients with mKS-XX. To find predictors discriminating patients with mKS-XX from those with KS.
Patients and Methods: MOSAI-XX is a retrospective study providing descriptive analyses of consecutive patients having mKS-XX diagnosed across different European tertiary referral centers. The clinical presentation, the prevalence of disorders of sex development/ovotesticular disorder (DSD/OT), anthropometric measures, hormone levels, gonadal characteristics and socio-professional statuses (schooling, precariousness scores and job positions) of mKS-XX have been compared to those from a cohort of 121 KS patients.
Results: Fifteen patients (fourteen adults) with mKS-XX have been identified and confirmed from 1986 to 2022 from four European tertiary referral centers. The mean (±SD) percentage of XX lineage in peripheral karyotypes was 57±27% (range 7-82%). The prevalence of DSD/OT was higher in mKS-XX than in KS patients (26.7% vs 1.1%, P=0.0067). 3/30 gonads from mKS-XX and 0/242 from KS patients had an ovarian component (P=0.0012). However, the number of gonads harboring ovarian tissue was lower in our series than in pooled previous case reports (17/36, P=0.01). The final height and the statural gain over midparental height were both lower in mKS-XX than in KS patients (173.6±14.3 vs 181.3±7.9 cm, P=0.016, and -3.8±6.8 vs +7.9±7.4 cm, P=0.0003, respectively). Testicular volumes did not differ between mKS-XX and KS (2.4±0.7 vs 3.0±1.8 mL), nor did concentrations of LH, FSH, total testosterone, estradiol and testicular peptides (P=ns for all comparisons). Individuals with mKS-XX performed better in schooling achievements and more frequently occupied high intellectual professions than KS (P=0.017 and P=0.015, respectively). Precariousness scores were lower in mKS-XX than in KS patients (P=0.017).
Conclusion: We describe the first European series of patients carrying a 46,XX/47,XXy mosaic KS. We found a lower DSD/OT and a higher KS-like phenotype prevalence than those previously known from case reports. Beyond DSD/OT, we found that anthropometric measures and socio-professional statuses were also able to discriminate mKS-XX from KS. Our results improve the current knowledge about the mKS-XX syndrome. In addition, our results may have an impact on the genetic counseling for pregnant women and couples confronted with offspring carrying this rare chromosomal formula.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more