ESPE Abstracts

Background: Pubertal virilization in a 46,XY DSD patient is generally due to partial androgen insensitivity, 5-alpha-reductase deficiency, or 17-ketoreductase deficiency. Recently, reports have identified virilization signs associated with NR5A1/SF-1 gene mutations.Cases presentation and method: We present two unrelated cases of pubertal virilization due to NR5A1/SF-1 gene mutation. Both were suspected to be primarily affected by 5-alph...

Background: Numerous studies focused on the association between hypospadias and Endocrine Disrupting Chemicals (EDC) exposures. The wide variability of phenotypes included in these studies, the absence of comparison groups representative of the populations and the absence of concomitant genetic testing to rule out another cause make the results questionable.Objective and hypotheses: We performed a prospective phenotype-specific analysis of patients with ...

Background: Severe forms of 46,XY DSD with uncertain sex may have a family history (FH) in ~15–20% of cases. On the other side of the DSD spectrum, data regarding isolated hypospadias is sparse and a FH of genital malformation is thought to be less frequent.Objective and hypotheses: The aims of the study were i) to determine the frequency of genital abnormalities in families of isolated hypospadiac boys, ii) to determine whether there is a particula...

Background: Partial androgen insensitivity syndrome (PAIS) covers a large spectrum of phenotypes, with the common denominator being insufficient virilisation of the external genitalia in an XY child with normal testosterone (T) production. Genetic diagnosis of PAIS is based on the identification of an androgen receptor (AR) gene mutation.Aim: The aim of this work was to determine whether the PAIS-like phenotype is associated with other gene mutations.</p...

Background: “Transient” Neonatal Diabetes Mellitus (TNDM) is a rare genetic beta cells dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Glucose homeostasis had not been investigated in adulthood.Objective and hypotheses: To investigate insulin secretion and insulin sensitivity in adults affected with TNDM or in their 1st degree mutated relatives.</p...

Background: Transient neonatal diabetes mellitus (TNDM) is a rare genetic β-cell dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Some of these patients suffer from neurodevelopmental defect. Long-term outcome has been poorly investigated.Objective and Hypotheses: To investigate metabolic and neurologic outcomes in adults affected with TNDM.M...

Background: Whilst multi-disciplinary intervention models for children and adolescents with obesity remain recommended best practice, there is a lack of long-term outcome data, especially in home-based models and programs embedded within the clinical setting. Whānau Pakari is a community-based multi-disciplinary assessment/intervention programme for child obesity, focused on reducing health inequity. Based in Taranaki, Aotearoa/New Zealand, it focusses on...

Introduction-Aim: MODY;It is an autosomal dominant, rare type of diabetes that occurs in young people as a result of mutations of beta cell function and genes involved in insulin secretion. The cases may be misdiagnosed as Type1 and Type2 diabetes. Considering that MODY is clinically and genetically heterogeneous, the findings should be evaluated correctly. It is important to define the clinical-laboratory characteristics of diagnosis and follow-up of patients...

Aim: Recent studies have shown that the first hour glucose concentration of ≥155 mg / dL in the oral glucose tolerance test (OGTT) in adults with normal glucose tolerance (NGT) may be a strong marker for the development of diabetes, and also an increase in subclinical inflammation, insulin resistance, dyslipidemia and serum transaminases. These results indicate that adults with NGT have increased risk of developing cardiovascular disease and non-alcoholi...

Aim: In this study, we planned to evaluate the patients with hyperprolactinemia etiology, clinical features and treatment responses.Material and Method: We evaluated retrospectively the features, clinical follow-up data and treatment responses of the patients with hyperprolactinemia in our pediatric endocrinology clinic between 01.01.2012-31.12.2018.Results: Thirty-one patients wit...