ECE2023 Poster Presentations Reproductive and Developmental Endocrinology (108 abstracts)
Characteristics of dilated aortas in patients with Turner syndrome: clinical, histological and cytogenetic analysis
Bruno Donadille 1 , Valent Alexander 2 , Amemiya Kisaki 3 , Rive-le-gouard Nicolas 4 , lecot-connan tatiana 5 , Iserin Laurence 6 , Achouh Paul 7 , Sylvie Salenave 8 , Bruneval Patrick 9,10 , Siffroi Jean-Pierre 4,11 & Sophie Christin-Maitre 11,12
1Saint-Antoine Hospital, Sorbonne University, Assistance Publique-Hôpitaux de Paris, Endocrinology department, Reference Center for Rare Endocrine Growth Diseases, Endo-ERN, Paris, France; 2Cytogenetics and Medical Biology, Institut Gustave Roussy, Department of Molecular Pathology, Villejuif, France; 3National Cerebral and Cardiovascular Center, Department of Pathology, Osaka, Japan; 4Armand Trousseau Hospital, Sorbonne University, AP-HP, Department of cytogenetics, Paris, France; 5Saint-Antoine Hospital, Sorbonne University, AP-HP, Endocrinology, Paris, France; 6European Hospital Georges Pompidou, Paris university, AP-HP, Department of Adult Congenital Cardiopathies, Paris, France; 7European Hospital Georges Pompidou, Paris university, AP-HP, Department of Cardiovascular Surgery, Paris, France; 8Bicêtre Hospital, AP-HP, Endocrinology, Paris, France; 9European Hospital Georges Pompidou, Paris university, AP-HP, Department of Pathology, Paris, France; 10INSERM U970 PARCC, Paris, France; 11INSERM U933, Paris, France; 1Saint-Antoine Hospital, Sorbonne University, Assistance Publique-Hôpitaux de Paris, Endocrinology department, Reference Center for Rare Endocrine Growth Diseases, Endo-ERN, Paris, France
Turner syndrome (TS) is a rare condition with a high frequency of aortic dilatation (AD) and a risk of aortic dissection. Our objective was to evaluate the characteristics of the aorta in patients with TS.
Methods: Analyses of aortic walls were obtained during prophylactic aortic replacement. Histological description and measurement of a standardized media degenerative score (MDC) were performed. Cytogenetic analysis quantified the level of monosomy X in blood karyotype, buccal smear and aortic media by FISH technique.
Results: Eleven patients aged 39 years (median; IQR: 29.5-46.5) with a mean aortic index of 29 mm/m2 (IQR: 26.7-30.1) were enrolled. Ten had a bicuspid aortic valve (BAV). Blood karyotypes showed 45,X; 45,X/46,XX and an abnormal X chromosome in 7/11, 1/11, and 3/11 cases, respectively. Degenerative elements were present in all aortas, with an MDC score=9.0 (IQR: 7-10.5). Aortic monosomy was correlated with that of the blood karyotype (P=0.003). However, one patient with 5% of 45,X mosaicism in blood cells had a 70% X monosomy in her aortic media. To our knowledge, this is the first systematic histological analysis showing early degenerative aortic characteristics in young women with ST. Our study shows that a low level of monosomy 45,X in the blood is not necessarily reassuring regarding a potential risk of aortic dilatation and therefore dissection.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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