ESPE Abstracts

Background & Aims: Although, there has been reports demonstrating association between adult-onset hypopituitarism and development of nonalcoholic fatty liver disease (NAFLD), studies are lacking regarding the development of NAFLD in children and young adult with childhood-onset hypopituitarism. We aimed to identify association between NAFLD and hypopituitarism in these patients.Methods: 76 Korean children and young a...

Background: Congenital adrenal hyperplasia (CAH), mostly caused by 21-hydroxylase deficiency, is autosomal recessive disorder characterized by impaired cortisol synthesis. It can be presented with a combination of aldosterone and cortisol deficiency and androgen excess. Therefore, excess production of androgen and glucocorticoid replacement can result to early bone maturation and ultimately diminished adult height (AH).Objectives...

The syndrome of resistance to thyroid hormone (RTH) is caused by decreased tissue responsiveness to thyroid hormone. With the exception, inheritance of RTH is autosomal dominant. The receptors are encoded by two genes (THRA and THRB), each of which undergoes alternate splicing to generate receptor subtypes (TRa1, TRβ1, and TRβ2), with differing tissue distributions.Here we describe a child with novel heterozygous mutations for THRB. Nine-months-old ...

Background: Precocious puberty (PP) is associated with psychological and behavioral problems. However, little is known about body image and psychological features in girls with PP, being treatment with GnRH analogues.Objective and hypotheses: This study aimed to evaluate the perception of body image and self-esteem in girls with PP, were receiving GnRH analogue therapy.Method: From March to August 2013, 82 girls with PP with GnRH a...

Context: Silver-Russell syndrome (SRS) is a rare imprinting disorder responsible for foetal and postnatal growth restriction. It is a clinical diagnosis based on Netchine-Harbison clinical scoring system in patients presenting with ≥ 4 items out of 6. Some of the items in this score are not assessable until the age of two years, such as growth retardation or feeding difficulties and body asymmetry can be difficult to identify in the first months of life. Ch...

Context: For transgender women undergoing gender-affirming hormone therapy (HT), breast development is an important treatment outcome. Since earlier studies showed small breast volumes in trans women treated with HT, we hypothesized that testosterone exposure during puberty might negatively influence breast development and that early initiation of puberty suppression (PS) might have a positive effect on breast development.Aim:</s...

Purpose: Growth hormone (GH) treatment has become common practice in Turner syndrome (TS) to improve final adult height. However, there are only a few studies on the analysis of good responders to GH treatment in TS. The aim of this study is to predict the responsiveness to growth hormone therapy in Turner syndrome.Methods: Among 197 TS patients registered in LG Growth study, 92 patients were excluded because of systemic illness or hypothyroidism. The cl...

Background: A national database has been developed to register longitudinal data from all CAH children detected through neonatal screening from 2002 onwards. So far, data from 105 children have been registered (65% of Dutch CAH patients) to evaluate treatment and long-term effects in CAH.Aims: To evaluate height and weight in relation to medication used in the first 2 years of life.Methods: Biometric data and medication dosage were...

Background: Recently, a national database has been developed to register yearly data from all children detected with CAH in the neonatal screening program from 2002 onwards. So far longitudinal data of 105 children have been registered (roughly 65% of Dutch CAH patients) to evaluate medical treatment and long-term effects in CAH. A national CAH work group developed guidelines for diagnostics and follow up in CAH.Objective and hypotheses: Aim of our curre...

Introduction: Androgen insensitivity syndrome (AIS) is a 46,XY difference of sex development (DSD) classically caused by mutations in the X-chromosomal androgen receptor (AR) gene. Nevertheless, in over 50% of individuals with clinical AIS no AR coding gene mutation can be found. We previously established an assay (apolipoprotein D (APOD) assay) that measures androgen dependent AR-activity in genital skin fibroblasts (GFs). Using this assay we identified a gro...