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X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Elodie Fiot 1 Delphine Zenaty 2, 1 Priscilla Boizeau 3, 4 Jérémie Haignere 4 Sophie dos Santos 5, 4 Juliane Leger 6, 7 J Carel 8 S Cabrol P. Chanson 9 S Christin-Maitre C Courtillot B Donadille J Dulon M Houang M. Nedelcu 10 I Netchine M Polak S Salenave D Samara-Boustani D. Simon P Touraine M Viaud H. Bony 11 K Braun Rachel Desailloud A Bertrand B Mignot F. Schillo 12 P. Barat 13 V. Kerlan 14 C Metz E. Sonnet 15 Y. Reznik 16 V Ribault H Carla I. Tauveron 17 C Bensignor F Huet B. Vergès 18 O. Chabre 19 C. Dupuis 20 A Spiteri M Cartigny C Stuckens J Weill A Lienhardt C Naud-Saudreau F. Borson-Chazot 21 A Brac de la Perriere M. Pugeat 22 T Brue R Reynaud G Simonin F. París 23, 10 C. Sultan 24 B. Leheup 25 G. Weryha 26 S. Baron 27 B Charbonnel S Dubourdieu E Baechler P Fenichel K Wagner F Compain H Crosnier C Personnier B. Delemer 28 A Hecart P Souchon M de Kerdanet F. Galland 29 S Nivot-Adamiak M. Castanet 30, 31 C. Lecointre O. Richard 32 N. Jeandidier 16 S Soskin P. Lecomte M Pepin-Donat P Pierre
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UNICANCER/CRCL - Centre de Recherche en Cancérologie de Lyon, GHE - Groupement Hospitalier Lyon-Est, Centre de médecine nucléaire
Abstract : Objective Turner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions and to determine whether the frequencies of congenital and acquired conditions depend on X chromosome gene dosage, as a function of karyotype subgroup. Design and methods This national retrospective observational cohort study includes 1501 patients. We evaluated the prevalence of congenital malformations and the cumulative incidence of subsequent specific comorbidities at five-year intervals, from the ages of 10 to 30 years, with stratification by karyotype subgroup: 45,X (n = 549), 45,X/46,isoXq (n = 280), 46,X,r(X)/46,XX (n = 106), 45,X/46,XX (n = 221), presence of Y (n = 87). Results Median age was 9.4 (3.7-13.7) years at first evaluation and 16.8 (11.2-21.4) years at last evaluation. Congenital heart (18.9%) malformations were more frequent in 45,X patients, and congenital renal (17.2%) malformations were more frequent in 45,X, 45,X/46,isoXq and 46,X,r(X)/46,XX patients than in those with 45,X/46,XX mosaicism or a Y chromosome (P < 0.0001). The cumulative incidence of subsequent acquired conditions, such as thyroid disease, hearing loss, overweight/obesity, dyslipidemia and, to a lesser extent, celiac disease, glucose intolerance/type 2 diabetes, hypertension and liver dysfunction increased with age, but less markedly for patients with mosaicism than for those with other karyotypes. Patients with a ring chromosome were more prone to metabolic disorders. Conclusion These data suggest that X gene chromosome dosage, particularly for Xp genes, contributes to the risk of developing comorbidities.
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https://hal.umontpellier.fr/hal-02863454
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Soumis le : mercredi 10 juin 2020 - 11:42:06
Dernière modification le : jeudi 2 décembre 2021 - 11:04:03

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Elodie Fiot, Delphine Zenaty, Priscilla Boizeau, Jérémie Haignere, Sophie dos Santos, et al.. X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood. European Journal of Endocrinology, BioScientifica, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩. ⟨hal-02863454⟩

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