... diabetes (T1D) polygenic scores, which quantify one’s genetic risk for T1D based on T1D risk allele burden, have been developed with good discriminating capacity between T1D and not-T1D. These tools have the potential to improve significantly diagnostic provider accuracy if used in clinic. Methods: We...

.... 2025 Introduction: Short stature can lead to physical limitations and socioemotional effects limiting a child and parents’ quality of life (QoL). This study investigates the impact of hypochondroplasia and other genetic causes ( ACAN , NPR2 mutations, and RASopathy) of short stature on QoL...

... from any ideas, methods, instructions or products referred to in the content or advertisements. 2025 Childhood obesity Genetics Endocrine disease Enzymes Established Facts The CPE mutation is the second example of a congenital deficiency of a prohormone/pro-peptide processing...

..., quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2024 Central precocious puberty Regulatory regions MKRN3 DLK1 Genetics...

... cardiovascular risk factor (CVRF), also in subjects with T1D, but the influence of the genetic predisposition of insulin resistance on cardiovascular risk is still unknown in T1D. We aimed to determine whether a genetic score composed of six variants, previously associated with insulin resistance and type 2...

... availability of next-generation sequencing techniques in recent years has led to recommendations for earlier integration of genetic testing in the diagnostic pathway of children with DSD. This review provides a practical overview of the clinical applications, advantages, and limitations of the more commonly...

...). The underlying mechanisms are mostly unknown. We aimed to decipher genetic aetiologies of SGA-SS within a large single-centre cohort. Methods: Out of 820 patients treated with growth hormone (GH), 256 were classified as SGA-SS (birth length and/or birth weight <−2 SD for gestational age and life-minimum...

... hyperinsulinism Genetics Hypoglycemia Turner syndrome X chromosome Diazoxide Pancreatectomy National Institutes of Health (NIH) 10.13039/100000002 HORMONE RESEARCH IN PÆDIATRIC S Original Paper Horm Res Paediatr 2018;89:413 422 DOI: 10.1159/000488347 Received: November 30, 2017 Accepted...

...Ahlee Kim; Masanobu Fujimoto; Vivian Hwa; Philippe Backeljauw; Andrew Dauber Background/Aims: Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report...

...Anna Grandone; Carlo Capristo; Grazia Cirillo; Marcella Sasso; Giuseppina Rosaria Umano; Michela Mariani; Emanuele Miraglia Del Giudice; Laura Perrone Background: Mutations in the imprinted gene MKRN3 have been described as a common genetic cause of idiopathic central precocious puberty (CPP...

..., instructions or products referred to in the content or advertisements. Adiposity Endocrine disorders Metabolism Physical activity Genetics HORMONE RESEARCH IN PÆDIATRIC S Original Paper Horm Res Paediatr 2017;87:153 161 DOI: 10.1159/000454805 Received: June 22, 2016 Accepted: November 28, 2016...

... identified genetic cause of septo-optic dysplasia (SOD). The PROP1 gene is involved in anterior pituitary cell lineage specification and is commonly implicated in non-syndromic combined pituitary hormone deficiency (CPHD). We aimed to assess the involvement of HESX1 and PROP1 mutations in a cohort...

... with congenital hyperinsulinism (HI), first described in the 1950s by McQuarrie, we examined the genetic locus and clinical phenotype of a novel form of dominant HI. Methods: We surveyed 25 affected individuals, 7 of whom participated in tests of insulin dysregulation (24-hour fasting, oral glucose and protein...

... was used for direct sequencing, multiplex ligation-dependent probe amplification and whole-genome SNP array analysis. Results: Three patients in group 1 had two novel heterozygous STAT5B mutations, in two combined with novel IGFALS variants. In groups 2 and 3 the association between genetic variants...

...Andrew Dauber; Joel N. Hirschhorn Genome-wide association (GWA) studies are a powerful tool for understanding the genetic underpinnings of human disease. In this article, we briefly review the role and findings of GWA studies in type 1 diabetes, stature, pubertal timing, obesity, and vitamin D...

..., The Netherlands. This study is designed to identify early environmental and genetic determinants of growth, development and health from early fetal life onwards [ 19,20 ]. In total, the cohort includes 9,778 mothers and their children. Additional, more detailed assessments of fetal and postnatal growth...

... of the studied variants. Conclusions: Keeping in mind that common variants do not recapitulate the whole genetic variation in a given gene region, this study indicates that the studied LEP, NPY1R and GPR54 variants do not have a major influence upon pubertal timing in Caucasian women. Effects of these genetic...

... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. AIP FIPA Genetics MEN1 Pituitary adenomas HORMONE RESEARCH Overview Horm Res 2009;71(suppl 2):75 77 DOI: 10.1159/000192441 Published online: April 29, 2009 Advances...

... or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Noonan syndrome Genetics MAPK PTPN11 SOS1 RAF1 Short stature...

...) occur in all groups. The etiology of diabetes is multifactorial, involving both genetic and environmental factors. Advances in technology, leading to the identification of over a dozen candidate genes, have accelerated the search for genetic factors contributing to the risk of diabetes. To date...