000136063 001__ 136063
000136063 005__ 20240711103551.0
000136063 0247_ $$2doi$$a10.4274/jcrpe.galenos.2022.2022-4-14
000136063 0248_ $$2sideral$$a135534
000136063 037__ $$aART-2022-135534
000136063 041__ $$aeng
000136063 100__ $$aAscaso, A.
000136063 245__ $$aEndocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
000136063 260__ $$c2022
000136063 5060_ $$aAccess copy available to the general public$$fUnrestricted
000136063 5203_ $$aObjective: The aim of this study was to expand knowledge about endocrine disorders in individuals with Cornelia de Lange syndrome (CdLS), a rare developmental genetic disorder with anomalies in multiple organs and systems. Methods: Hormone levels, clinical scores, anthropometric measurements, and molecular analysis were assessed in 24 individuals with CdLS. Results: Hyperprolactinemia was the most common endocrine disorder. Three patients showed subclinical hypothyroidism. In the gonadotropic axis, mildly delayed puberty was observed, as well as genital anomalies, such as cryptorchidism. Despite short stature, levels of insulin-like growth factor 1 and insulin-like growth factor-binding protein 3 were normal, on average. Three prepubertal individuals without risk factors had higher than normal values for the homeostatic model assessment of insulin resistance (HOMA-IR) and for insulinemia, suggesting insulin resistance. Furthermore, two adults had elevated BMIs associated with HOMA-IR values over the cut-off values. Conclusion: CdLS can lead to dysregulation of the endocrine system, particularly in patients with high HOMA-IR values and insulinemia who are at risk of insulin resistance. Therefore, clinical follow-ups with hormonal assessments are proposed for individuals with CdLS.
000136063 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B32-17R$$9info:eu-repo/grantAgreement/ES/DGA/B32-20R$$9info:eu-repo/grantAgreement/ES/ISCIII/PI19-01860
000136063 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000136063 590__ $$a1.9$$b2022
000136063 591__ $$aPEDIATRICS$$b74 / 130 = 0.569$$c2022$$dQ3$$eT2
000136063 591__ $$aENDOCRINOLOGY & METABOLISM$$b128 / 144 = 0.889$$c2022$$dQ4$$eT3
000136063 592__ $$a0.502$$b2022
000136063 593__ $$aPediatrics, Perinatology and Child Health$$c2022$$dQ2
000136063 593__ $$aEndocrinology$$c2022$$dQ3
000136063 593__ $$aEndocrinology, Diabetes and Metabolism$$c2022$$dQ3
000136063 594__ $$a3.4$$b2022
000136063 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000136063 700__ $$0(orcid)0000-0002-4703-6620$$aLatorre-Pellicer, A.$$uUniversidad de Zaragoza
000136063 700__ $$0(orcid)0000-0003-0170-7326$$aPuisac, B.$$uUniversidad de Zaragoza
000136063 700__ $$aTrujillano, L.
000136063 700__ $$0(orcid)0000-0001-9962-2157$$aArnedo, M.$$uUniversidad de Zaragoza
000136063 700__ $$aParenti, I.
000136063 700__ $$aLlorente, E.
000136063 700__ $$0(orcid)0000-0002-7213-7095$$aPuente-Lanzarote, J. J.$$uUniversidad de Zaragoza
000136063 700__ $$0(orcid)0000-0001-8500-1667$$aMatute-LLorente, A.$$uUniversidad de Zaragoza
000136063 700__ $$0(orcid)0000-0002-0023-8137$$aAyerza-Casas, A.$$uUniversidad de Zaragoza
000136063 700__ $$aKaiser, F. J.
000136063 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, F. J.$$uUniversidad de Zaragoza
000136063 700__ $$0(orcid)0000-0003-3203-6254$$aPié, J.$$uUniversidad de Zaragoza
000136063 700__ $$0(orcid)0000-0002-0902-387X$$aBueno-Lozano, G.$$uUniversidad de Zaragoza
000136063 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología
000136063 7102_ $$11006$$2245$$aUniversidad de Zaragoza$$bDpto. Fisiatría y Enfermería$$cÁrea Educación Física y Depor.
000136063 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000136063 773__ $$g16, 2 (2022), 211-217$$pJCRPE$$tJCRPE$$x1308-5727
000136063 8564_ $$s217689$$uhttps://zaguan.unizar.es/record/136063/files/texto_completo.pdf$$yVersión publicada
000136063 8564_ $$s2575005$$uhttps://zaguan.unizar.es/record/136063/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000136063 909CO $$ooai:zaguan.unizar.es:136063$$particulos$$pdriver
000136063 951__ $$a2024-07-11-08:37:31
000136063 980__ $$aARTICLE