دورية أكاديمية
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
| العنوان: | Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome |
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| المؤلفون: | Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-Lanzarote, Ángel Matute-Llorente, Ariadna Ayerza-Casas, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié Juste, Gloria Bueno-Lozano |
| المصدر: | JCRPE, Vol 16, Iss 2, Pp 211-217 (2024) |
| بيانات النشر: | Galenos Yayincilik, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Pediatrics LCC:Diseases of the endocrine glands. Clinical endocrinology |
| مصطلحات موضوعية: | cornelia de lange syndrome, homa-index, insulin resistance, endocrine evaluation and hypothalamic-pituitary axis, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665 |
| الوصف: | 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. Hormone levels, clinical scores, anthropometric measurements, and molecular analysis were assessed in 24 individuals with CdLS. Hyperprolactinemia was the most common endocrine disorder. Three patients showed subclinical hypothyroidism. Concerning 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 tended to be normal. 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 body mass indexes associated with HOMA-IR values over the cut-off values. CdLS may 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-up with comprehensive hormonal assessment appears warranted in individuals with CdLS. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1308-5727 1308-5735 |
| العلاقة: | https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-81894&look4Test=; https://doaj.org/toc/1308-5727Test; https://doaj.org/toc/1308-5735Test |
| DOI: | 10.4274/jcrpe.galenos.2022.2022-4-14 |
| الوصول الحر: | https://doaj.org/article/7bd73cdcf3334e3ab419baea7aaf29f1Test |
| رقم الانضمام: | edsdoj.7bd73cdcf3334e3ab419baea7aaf29f1 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 13085727 13085735 |
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| DOI: | 10.4274/jcrpe.galenos.2022.2022-4-14 |