17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.

Purpose: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.

Methods: Data from 97 nationwide cases were analyzed using the CEDD-NET web system.

VARIATIONS IN MONOGENIC DIABETES AND DIABETES SUSCEPTIBILITY GENES IN PEDIATRIC CASES: SINGLE CENTER EXPERIENCE.

Context: Diabetes is a chronic disorder with a complex pathogenetic background including monogenic, polygenic, and environmental causes.

Objective: The aim of the present paper is to share the information related to genetic and clinical data of large pediatric diabetes cohort.

Design: The present study retrospectively analyzes genetic and clinical findings of subjects diagnosed with diabetes under the age of 18 year and are in follow-up in a pediatric diabetes referral center.

Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship.

Objective: Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY.

The relationship between blood biochemical parameters and oral health in children with obesity/overweight.

Aim The purpose of this study was to evaluate the effects of obesity and overweight on the oral/dental health and blood biochemistry parameters in children.Methods A total of 87 children (29 boys, 58 girls) aged 1-18 presenting to our paediatric endocrinology outpatient clinic were included in the study. The patient group consisted of children with obesity/overweight and the control group consisted of children with normal weight.

The prevalence of vitamin D deficiency and the factors affecting vitamin D levels in children admitted to the outpatient clinic of pediatric endocrinology in Bolu Province.

Background: The present study aimed to determine the rate of vitamin D deficiency in children who presented to the pediatric endocrinology outpatient clinic in Bolu and to investigate the factors affecting vitamin D levels.

Methods: Vitamin D levels of 1008 children and adolescents were retrospectively analyzed according to age group (0-1, 1-10, and 10-18 years), gender, season, month, obesity and other diseases, and deficiency category. Moreover, calcium, phosphorus, alkaline phosphatase, and parathyroid hormone levels were evaluated.