ESPE Abstracts

Background: RASopathies are a group of diseases with common clinical features that occur as a result of pathogenic variants in genes encoding components of the RAS/MAPK pathway. The aim of this study was to evaluate the clinical and molecular features of RASopathy cases in our pediatric endocrinology unit.Subjects and Methods: The clinical and molecular data of 42 patients (18 girls) from 39 families were evaluated, retr...

Introduction: 17α-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal insufficiency characterized with decreased cortisol and sex steroid biosynthesis, overproduction of ACTH, and increased mineralocorticoids. The overproduction of corticosterone hinders the symptoms of glucocorticoid deficiency and causes sodium retention, hypertension, and hypokalemia in severe cases. Affected 46,XX and 46,XY individuals are phenotypically female in the...

Introduction and Aim: In this study, we aimed to investigate the admission characteristics, the ratio of permanent/transient hypothyroidism, and the predictors of permanent or transient hypothyroidism at initial evaluation in newborns admitted in 2013 and 2014 from neonatal TSH screening program.Method and Results: During two years period, 985 babies were admitted to our clinic with screening results for evaluation, and ...

Context: Clinical experience is limited regarding the efficacy of different depot Leuprolide acetate (dLA) treatment protocols in girls with central precocious puberty (CPP).Aim: To compare the 3.75 mg/4 weeks versus 11.25 mg/12 weeks ıntramuscular injection of dLA in suppressing gonadotropins and pubertal development.Subjects and Methods: In a prospective study, 92 girls wit...

Context: Intravenous Gonadotropin-Releasing-Hormone (GnRH) stimulation test has a central role in evaluating gonadotropic activation in the diagnosis and monitorization of the treatment in patients with central precocious puberty (CPP). However, this test is invasive, laborious, costly and availability of GnRH preparation is limited in some countries.Objective: To evaluate the utility of the LH level measured 40-minutes ...

Background: Research has shown that some of the endocrine disorders in patients with sickle cell disease include delayed growth and pubertal development. No study has been done in Kenya to investigate whether this applies for the local children with sickle cell anaemia.Objective: To describe growth and pubertal development in children and adolescents with Sickle cell disease.Methodology: This was a cross-sectional descriptive study...

Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom is frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition.Objectives: The goal of this study was to summarize the clinical characteristics of children with STSL who had xanthomas as their first symptom and to provide clues for early clinical dia...

Background and Objectives: In the patients with Turner syndrome (TS), the risk of hypertension is higher in childhood and adulthood. The aim of the study was to retrospectively analyze 24-hour ambulatory blood pressure monitoring (ABPM) in children and adolescents with TS and its related factors.Materials and Methods: A retrospective study was conducted involving TS patients admitted to our pediatric endocrine specialist...

Objective: To summarize the clinical characteristics, genetics and follow-up data of five children with thyroid hormone resistance syndrome (RTH) and review the related literatures.Methods: The clinical data of the five children diagnosed with RTH in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood col...

Object: To raise the awareness of clinical manifestations about vasculitis-related moyamoya syndrome by summarizing the clinical characteristics of a girl with central precocious puberty, vasculitis-related moyamoya syndrome and reviewing the literature. Method: We carried on the review analysis to the patient with central precocious puberty, vasculitis-related moyamoya syndrome and reviewed the literature. Result: The bilateral breast development was the prim...