J Clin Res Pediatr Endocrinol. 2024; 16(2): 211-217 | DOI: 10.4274/jcrpe.galenos.2022.2022-4-14

Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome

Ángela Ascaso¹, Ana Latorre-Pellicer¹, Beatriz Puisac¹, Laura Trujillano², María Arnedo¹, Ilaria Parenti³, Elena Llorente⁴, Juan José Puente-Lanzarote⁴, Ángel Matute-Llorente⁵, Ariadna Ayerza-Casas¹, Frank J. Kaiser⁶, Feliciano J. Ramos², Juan Pié Juste¹, Gloria Bueno-Lozano^7
1University of Zaragoza School of Medicine, Department of Pharmacology-Physiology, Unit of Clinical Genetics and Functional Genomics, Zaragoza, Spain
²Hospital Clínico Universitario “Lozano Blesa”, Department of Paediatrics, Unit of Clinical Genetics, Zaragoza, Spain
³Universität Duisburg-Essen, Universitätsklinikum Essen, Institut für Humangenetik, Essen, Germany
⁴Hospital Clinico Universitario “Lozano Blesa”, Clinical Biochemistry Service, Zaragoza, Spain
⁵GENUD (Growth, Exercise, Nutrition and Development) Research Group, Faculty of Health and Sport Sciences, Department of Physiatry and Nursing, Huesca, Spain
⁶Universität Duisburg-Essen, Universitätsklinikum Essen, Institut für Humangenetik, Essen, Germany and Essener Zentrum für Seltene Erkrankung (EZSE), Universitätsmedizin Essen, Essen, Germany
⁷Hospital Clínico Universitario “Lozano Blesa”, Department of Paediatrics, Unit of Endocrinology, Zaragoza, Spain

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.

Keywords: Cornelia de Lange syndrome, HOMA-index, insulin resistance, endocrine evaluation and hypothalamic-pituitary axis

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