ESPE Abstracts

Aim: Recommendations for the management of Congenital Adrenal Hyperplasia (CAH) outline a target 17-OH Progesterone (17OHP) of 12-36nmol/l, but do not specify target concentrations for Androstenedione (D4). We aimed to study the temporal variations of these biomarkers in patients from different geographical regions.Method: This retrospective multi-centre study, including 21 centres (14 countries), analysed serum biomarke...

Background: Rathke’s cleft cysts (RCC) are benign lesions of the pituitary gland, remnants of Rathke’s pouch. RCC have rarely been reported in children and adolescents and are usually known as asymptomatic but some cases may be associated with hormonal disturbances.Objective and hypotheses: The aim of the study was to assess the characteristics and frequency of endocrine disturbances in children with RCC.Method: We retros...

Background: GLP-1 agonists have a special place in the treatment of type 2 diabetes mellitus (T2DM). Dulaglutide is GLP-1agonist with important advantages, it doesn’t cause hypoglycemia, reduces weight and decreases HbA1c with sufficient level. GLP-1 agonists are also involved in the treatment of obesity.Objectives: The purpose of this study was to present the efficacy of Dulaglutide (GLP-1) in obesity with and wit...

Background: Tuner syndrome (TS) is associated with a distinctive cognitive profile including memory impairments. The current study focuses on metamemory defined as our knowledge about our memory functioning and yet never been explored in TS.Objective and hypotheses: The aim of this preliminary study is thus to determine what patients with TS know about their memory functioning and when their memory is impaired whether or not they are aware of those defic...

Background: Carney complex (CC) is a rare, dominantly inherited condition due to mutations of the tumour suppressor gene PRKAR1A. Endocrine manifestations include: Cushing’s syndrome (CS) due to primary pigmented nodular adrenocortical disease, pituitary adenomas, testicular neoplasms, thyroid tumours, and ovarian cysts. The management of some of these tumours is controversial.Objective and hypotheses: To describe conservative management of CC.<...

Background: We already described a partial IGF1 primary deficiency due to an exon 4 homozygous missense mutation (g.65941 G>A). A few patients are now described with a heterozygous IGF1 deletion or mutation, questioning about IGF1 haplo insufficiency role in short stature.Results: We describe a boy born from consanguineous parents, with an intra uterine growth restriction (IUGR). Birth weight: 2520 g (−1 SDS) birth length: 46 ...

Background: Final results from MEGHA study required by Health French Authorities (HAS).Objective and hypotheses: Objectives are to carry out longitudinal follow-up during maximum 5 years of AGHD patients treated with Saizen, with a description of prescription modalities, demographic and clinical characteristics, patient compliance, product safety, and quality of life.Method: MEGHA is a multicentric study, with prospective follow-up...

Introduction: Data on BP in children with classic congenital adrenal hyperplasia (CAH) is inconsistent.Aim: To assess the trend in BP throughout childhood using data from the International CAH registry and compare this to normative data from the American Academy of Paediatrics (AAP).Method: This retrospective multi-centre study included 37 centres from 20 countries. BP data was ana...

Introduction: Prematurity, a worldwide health issue, is often associated with renal tubular immaturity leading to major salt loss, whose mechanisms remain poorly understood. Moreover, these premature infants are prone to develop hypertension early in adulthood.Objective: To study the ontogenesis of renal mineralocorticoid and glucocorticoid signaling pathways in preterm infants and to evaluate their respective role during neonatal adaptation and in the e...

Background: BoneXpert software calculates bone health index (BHI) from cortical thickness and mineralisation of three metacarpals, and bone age (BA) using 13 bones: Radius, ulna and bones in ray 1, 3, 5. Strong correlations between BoneXpert BHI and dual-energy x-ray absorptiometry (DXA) and peripheral quantitative computed CT (pQCT) measurements are reported 1. Low bone mineral density (BMD), measured by DXA, and improvement with GH is described in childhood GH deficiency (GH...