hrp0082p1-d2-116 | Fat Metabolism & Obesity (1) | ESPE2014

Characterizing the Metabolically Obese Normal Weight Phenotype in Youth

Henderson Melanie , Mathieu Marie-Eve , Benedetti Andrea , Barnett Tracie

Background: Although metabolically obese normal weight (MONW) adults are at increased risk of type 2 diabetes and cardiovascular disease (CVD), little is known regarding MONW children.Objective and hypotheses: To characterize lifestyle habits and insulin dynamics of MONW children.Method: Caucasian youth (n=630) aged 8–10 years, with at least one obese biological parent, were studied (QUALITY cohort). We defined MONW c...

hrp0082p1-d3-196 | Pituitary | ESPE2014

Rathke Cleft Cysts and Endocrine Dysfunction in Children

Dupre Marie , Brioude Frederic , Berard Laurence , Esteva Blandine , Houang Muriel

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...

hrp0082p1-d3-95 | Sex Development | ESPE2014

Ovarian Development and Hormonal Feedback Mechanism in a 46XX Patient with cyp19a1 Deficiency Under Low Dose Estrogen Replacement

Burckhardt Marie-Anne , Obmann Verena , Janner Marco , Mullis Primus E

Background: Ovarian and uterine development in relation to hormonal feedback mechanisms (E2, LH, FSH, and inhibin) has rarely been studied. Therefore, the age specific and longitudinally adequate replacement dose of estradiol to achieve normal maturation in terms of ovarian and uterine development during infancy, childhood and adolescence remains not well known. However, aromatase deficiency offers an excellent model to study the relevant estradiol dose needed to ac...

hrp0082p3-d2-826 | Growth (1) | ESPE2014

Usability and Safety of FlexPro® PenMate® in Patients, Caregivers and Healthcare Professionals (HCPs)

Wen Yanhong , Korsholm Conny Nohr , Klinck Rasmus , Kappelgaard Anne-Marie

Introduction: FlexPro® PenMate® (PenMate®) (Novo Nordisk A/S, Denmark) aims to reduce needle anxiety by hiding the needle during injection. This usability test validated the safe and effective use of PenMate® and the instructions for use (IFU) in patients with growth hormone (GH) deficiency (GHD), Turner syndrome (TS), Noonan syndrome (NS) and children born small for gestational age (SGA).Me...

hrp0084fc4.6 | Growth | ESPE2015

Positive Association between Height and Cancer in the Swedish Population

Benyi Emelie , Linder Marie , Adami Johanna , Palme Marten , Savendahl Lars

Background: Previous studies have indicated that taller individuals have a higher risk of developing different types of cancer, including breast cancer and melanoma.Objective and hypotheses: Our goal was to study any association between height and the risk of cancer in general-, and breast cancer and melanoma specifically in a very large cohort composed of most Swedish women and men followed over a long period of time.Method: We ha...

hrp0084p2-232 | Bone | ESPE2015

Regulation of Bone Growth Via Ligand-Specific Activation of Oestrogen Receptor α

Iravani Maryam , Lagerquist Marie , Ohlsson Claes , Savendahl Lars

Background: Oestrogens are well known for their capacity to promote bone maturation and at high doses to induce growth plate closure and thereby stop further growth. High-dose oestrogen treatment has therefore been used to limit growth in extremely tall girls. However, recent data suggest that this treatment may have severe side effects, including increased risk of cancer and reduced fertility.Objective and hypotheses: We hypothesised that oestrogenic ef...

hrp0084p3-1044 | Growth | ESPE2015

Value of Alkaline Phosphatase Assay in Short Stature Exploration

Naccache Alexandre , Gayet Claire , Wieliczko Marie Claire , Castanet Mireille

Background: Short stature is a common reason for pediatric endocrinologist consultation, but in many cases, no cause can be identified. Childhood hypophosphatasia has widely variable clinical features from short stature to low bone mineral density with skeletal deformities, and the place of serum alkaline phosphatase (ALP) activity assay could be raised as etiological exploration is not consensualObjective and hypotheses: The aim of our study was to eval...

hrp0094p2-157 | Diabetes and insulin | ESPE2021

A case of severe hypertriglyceridaemia complicating new-onset type 1 diabetes mellitus

Belkhatir Khadidja , Lokulo-Sodipe Oluwakemi , Frohock Anne-Marie , Basu Supriyo ,

Introduction: Extreme hypertriglyceridaemia is uncommon in the paediatric population but can have devastating consequences. It can lead to acute pancreatitis, cutaneous eruptive xanthomas and lipaemia retinalis. Severe hypertriglyceridemia likely accounts for 1-10% of acute pancreatitis cases in adults but there is limited data in children. We report a case of new-onset type 1 diabetes mellitus (T1DM) presenting in diabetic ketoacidosis (DKA) with acute pancre...

hrp0084p2-397 | GH & IGF | ESPE2015

Silver Russell syndrome: A Cause of Partial IGF1 Resistance?

Dufourg Marie-Noelle , Perin Laurence , Houang Muriel , Daubard Marie-Laure , Brioude Frederic , Bouc Yves Le , Netchine Irene

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, relative macrocephaly at birth, prominent forehead, severe feeding difficulties and body asymmetry. In around 50%, it is secondary to hypomethylation at the IGF2/H19 imprinted locus on 11p15 (11p15 LOM), and in 10% to a maternal disomy of chromosome 7 (mUPD7). Mechanisms of postnatal growth failure in SRS are not well understood.Objective and hypo...

hrp0095p1-411 | Adrenals and HPA Axis | ESPE2022

Prevalence and Incidence of Congenital Adrenal Hyperplasia in Denmark – a nationwide cohort study

Berglund Agnethe , Juul Ornstrup Marie , Lind-Holst Marie , Bækvad-Hansen Marie , Duno Morten , Juul Anders , Borch Luise , Jørgensen Niels , M. Main Kathrina , Hansen Dorte , Højbjerg Gravholt Claus

Aim: Increased clinical attention toward less severe cases of congenital adrenal hyperplasia (CAH) may affect both incidence and prevalence. In this nationwide population-based cohort study, we estimate incidence, prevalence, and age at diagnosis of CAH according to subtype and sex.Patients and Methods: Individuals registered with a diagnosis of CAH during 1977 to 2018 were identified in the Danish National Patient Regis...