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Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.
- Source :
- Journal of Clinical Research in Pediatric Endocrinology; Jun2024, Vol. 16 Issue 2, p211-217, 7p
- Publication Year :
- 2024
-
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. [ABSTRACT FROM AUTHOR]
- Subjects :
- HEALTH literacy
DE Lange's syndrome
HOMEOSTASIS
HORMONES
BODY mass index
RARE diseases
DESCRIPTIVE statistics
DEVELOPMENTAL disabilities
INSULIN resistance
RESEARCH methodology
METABOLIC syndrome
ENDOCRINE diseases
ANTHROPOMETRY
CRYPTORCHISM
PITUITARY diseases
HYPOTHYROIDISM
CONNECTIVE tissue growth factor
DISEASE risk factors
Subjects
Details
- Language :
- English
- ISSN :
- 13085727
- Volume :
- 16
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Journal of Clinical Research in Pediatric Endocrinology
- Publication Type :
- Academic Journal
- Accession number :
- 177615454
- Full Text :
- https://doi.org/10.4274/jcrpe.galenos.2022.2022-4-14