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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

Autor: Elodie Fiot, Delphine Zénaty, Priscilla Boizeau, Jérémie Haignere, Sophie Dos Santos, Juliane Léger, J C Carel, S Cabrol, P Chanson, S Christin-Maitre, C Courtillot, B Donadille, J Dulon, M Houang, M Nedelcu, I Netchine, M Polak, S Salenave, D Samara-Boustani, D Simon, P Touraine, M Viaud, H Bony, K Braun, R Desailloud, A M Bertrand, B Mignot, F Schillo, P Barat, V Kerlan, C Metz, E Sonnet, Y Reznik, V Ribault, H Carla, I Tauveron, C Bensignor, F Huet, B Verges, O Chabre, C Dupuis, A Spiteri, M Cartigny, C Stuckens, J Weill, A Lienhardt, C Naud-Saudreau, F Borson-Chazot, A Brac de la Perriere, M Pugeat, T Brue, R Reynaud, G Simonin, F Paris, C Sultan, B Leheup, G Weryha, S Baron, B Charbonnel, S Dubourdieu, E Baechler, P Fenichel, K Wagner, F Compain, H Crosnier, C Personnier, B Delemer, A C Hecart, P F Souchon, M De Kerdanet, F Galland, S Nivot-Adamiak, M Castanet, C Lecointre, O Richard, N Jeandidier, S Soskin, P Lecomte, M Pepin-Donat, P Pierre

Publikováno v: European Journal of Endocrinology
European Journal of Endocrinology, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩
European Journal of Endocrinology, BioScientifica, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩

ObjectiveTurner 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 a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90141f9c76344ac051168fc9f8ff886a
https://doi.org/10.1530/eje-18-0878

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Isolated FSH deficiency revealing a granulosa cell tumor

Autor: O. Graesslin, A.-C. Hecart, K. Joseph, F. Amiot-Chapoutot, B. Delemer, C. Hoeffel, B. Decoudier

Publikováno v: Annales d'Endocrinologie. 71:543-547

We report a case of a 41-year-old woman with a recent secondary amenorrhea and infertility. The initial assessment ruled out premature ovarian failure, polycystic ovary syndrome and led to suspect a hypothalamo-pituitary cause. However, the unusual h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bba2f2e68a4f208a8202a6c4ab07efeb
https://doi.org/10.1016/j.ando.2010.08.008

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Study of the rate of early glucose disappearance following insulin injection: insulin sensitivity index

Autor: Marc Leutenegger, V. Durlach, A. Gross, H. Grulet, A. C. Hecart

Publikováno v: Diabetes Research and Clinical Practice. 20:201-207

The euglycaemic hyperinsulinaemic glucose clamp is usually considered as the reference technique to evaluate insulin sensitivity. As it is an expensive and time-consuming tool, we therefore tried to validate a simple insulin tolerance test (ITT) (IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dfda48f68d22645e9acb6f6a90f368d
https://doi.org/10.1016/0168-8227(93)90079-k

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Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy

Autor: A. S. Valat, O. Lascols, Corinne Vigouroux, Pascal Pigny, A. C. Hecart, J.-L. Wémeau, D. Vincent-Desplanques, Marie-Christine Vantyghem, F. Defrance-Faivre, Brigitte Delemer, Jacqueline Capeau, C. Fermon

Publikováno v: The Journal of clinical endocrinology and metabolism. 93(6)

Familial partial lipodystrophy due to LMNA (lamin A/C) mutations is a rare disorder characterized by a selective loss of adipose tissue and insulin resistance. Dyslipidemia and severe diabetes often occur during its evolution. Only isolated and contr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a97c1fb5ecef6357fd3a885b39217756
https://pubmed.ncbi.nlm.nih.gov/18364375

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[How to interprete hypercalcitoninemia?]

Autor: N, Levy-Bohbot, M, Patey, H, Larbre, A-C, Hecart, J, Caron, B, Delemer

Publikováno v: La Revue de medecine interne. 27(8)

Today, calcitonin assay is used for the diagnosis of thyroid medullary cancer in the context of nodular thyroid disease. Calcitonin is an excellent marker of thyroid medullary cancer but some hypercalcitoninemia can also be related to other diseases,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::605ebda8ff97c6d4fbd8dad3c0d0519b
https://pubmed.ncbi.nlm.nih.gov/16857299

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