1. Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
- Author
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Ascaso Á, Latorre-Pellicer A, Puisac B, Trujillano L, Arnedo M, Parenti I, Llorente E, Puente-Lanzarote JJ, Matute-Llorente Á, Ayerza-Casas A, Kaiser FJ, Ramos FJ, Juste JP, and Bueno-Lozano G
- Subjects
- Humans, Male, Female, Child, Adolescent, Adult, Young Adult, Child, Preschool, Endocrine System Diseases diagnosis, Endocrine System Diseases blood, Endocrine System Diseases physiopathology, De Lange Syndrome diagnosis, De Lange Syndrome physiopathology, Insulin Resistance, Homeostasis physiology
- Abstract
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., (©Copyright 2024 by Turkish Society for Pediatric Endocrinology and Diabetes / The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.)
- Published
- 2024
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