Publications by authors named "P Dusatkova"
Genetic factors play a crucial role in determining human height. Short stature commonly affects multiple family members and therefore, familial short stature (FSS) represents a significant proportion of growth disorders. Traditionally, FSS was considered a benign polygenic condition representing a subcategory of idiopathic short stature (ISS).
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- This study investigates the genetic causes of short stature (SS) in a unique group of children from consanguineous families in Sulaimani, Iraq, aiming to enhance understanding of SS genetics and inspire future genetic testing methods for similar populations.
- Out of 64 eligible children with SS, genetic testing revealed a cause in 31 participants (61%), pinpointing pathogenic variants in various genes linked to growth regulation and other biological processes.
- The findings suggest that a customized genetic testing approach is necessary to improve diagnosis rates in SS cases within consanguineous groups, as existing gene panels only identify causes in a limited percentage of cases.
Because the causes of combined pituitary hormone deficiency (CPHD) are complex, the etiology of congenital CPHD remains unknown in most cases. The aim of the study was to identify the genetic etiology of CPHD in a well-defined single-center cohort. In total, 34 children (12 girls) with congenital CPHD (growth hormone (GH) deficiency and impaired secretion of at least one other pituitary hormone) treated with GH in our center were enrolled in the study.
View Article and Find Full Text PDFMonogenic diabetes is a gateway to precision medicine through molecular mechanistic insight. Hepatocyte nuclear factor 1A (HNF-1A) and HNF-4A are transcription factors that engage in crossregulatory gene transcription networks to maintain glucose-stimulated insulin secretion in pancreatic β cells. Variants in the HNF1A and HNF4A genes are associated with maturity-onset diabetes of the young (MODY).
View Article and Find Full Text PDFGenetic Testing of Children With Familial Tall Stature: Is it Worth Doing?
J Clin Endocrinol Metab
October 2024
Article Synopsis
- * 34 children with FTS were analyzed, revealing that about one-third had identifiable genetic causes, including specific karyotypes and gene variations.
- * The findings suggest that genetic testing is essential for all children with FTS to uncover potential monogenic or cytogenetic issues, even if they don't show obvious physical signs.