hrp0092p2-162 | GH and IGFs | ESPE2019

Metabolic Effects of Growth Hormone Treatment in Short Prepubertal Children: A Double-Blinded Randomized Clinical Trial

Tidblad Anders , Gustafsson Jan , Marcus Claude , Ritzén Martin , Ekström Klas

Objective: Growth hormone (GH) is a central hormone for regulating linear growth during childhood and also highly involved in metabolism of lipids, carbohydrates and protein. However, few studies report on how treatment with GH during childhood influences metabolic parameters. Our aim was to investigate metabolic effects of different doses of GH in short children with GH peak levels in the low normal range.Design: Thirty...

hrp0092p2-220 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Normalized Pubertal Tempo of Maturation and Pubertal Height Gain in Girls with MPHD, Using a Physiological Treatment Approach with Natural Estrogens & rhGH

Lundberg Elena , Kriström Berit , Holmlund Mariell , Albertsson-Wikland Kerstin

Background: Pubertal tempo of breast development on natural sex-steroid replacement therapy in girls with multiple pituitary hormone deficiencies (MPHD) and pubertal growth spurts on adequate GH-treatment regimens were unknown in 1989 and are still not known.Objective and Hypotheses: A hypothesis driven prototype trial1,2 was initiated in the late 80ies aiming to mimic normal puberty regarding both pubertal ma...

hrp0092p2-254 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Paediatric Health Assistance to Transsexual Minor in the Multidisciplinary Care Unit of the Basque Country (Spain)

Rica Itxaso , Grau Gema , Vela Amaia , Rodríguez Amaia , Guadilla M. Luisa

In 2009, the National Health Service of the Basque Country created a Gender Identity Reference Unit (GIU-BC) to cover the health needs of the transsexual population with a multidisciplinary assessment: Psychiatry, psychology, endocrinology, plastic and reconstructive surgery. Pediatric endocrinologists and pediatric psychiatry were included in 2013.Aim: To know the activity of Pediatric Endocrinology in the GIU-BC since 2013.<p class...

hrp0092p2-264 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Ethical and Familial Dilemmas of Genitoplasty Encountered in Congenital Adrenal Hyperplasia

Dirlewanger Mirjam , Birraux Jacques , Edan Anne , Klee Philippe , Phan-Hug Franziska , Schwitzgebel Valérie M.

Differences of sex development (DSD) occur in about 1 in 3000 newborns in Switzerland. The indication and timing of genitoplasty in children with DSDs is a complex issue. In 2012 the Swiss National Advisory Commission on Biomedical Ethics published its position against early irreversible interventions in order to "normalize" the aspect of the external genitalia.We report the case of a child with a 46,XX DSD due to a classical form of congenital a...

hrp0092p2-268 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

The Effect of Vitamin D Supplementation on Androgen Levels of Adolescent Girls with Hyperandrogenism

Çig Esranur , Atar Müge , Pirgon Özgür

Aim: The aim of this study was to evaluate the effect of different doses of vitamin D supplementation on androgen levels in adolescent girls who were treated with metformin.Method: 45 adolescent girls diagnosed with hyperandrogenism were divided into the 3 different groups according to the treatment scheme. Patients treated with metformin (850 mg / day oral)(n = 15), metformin and vitamin D drops (2,000 IU / day)(<em...

hrp0092p2-275 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

46,XY Complete Gonadal Dysgenesis in a Familial Case with a Rare Mutation in the Desert Hedgehog (DHH) Gene

Neocleous Vassos , Fanis Pavlos , Cinarli Feride , Oulas Anastasios , Spyrou George M , Phylactou Leonidas A , Skordis Nicos

Purpose: Disorders of sex development (DSD) have been linked with gene defects that lead to gonadal dysgenesis. Herein, we aimed at identifying the genetic cause of gonadal dysgenesis in a patient with primary amenorrhoea and 46,XY karyotype from a consanguineous family.Methods and Results: Whole exome sequencing (WES) was performed and revealed in homozygosity the rare and only once reported p.Arg164Pro missense mutatio...

hrp0092p2-292 | Thyroid | ESPE2019

Thyroid Autoimmunity in Children and Adolescents with Type 1 Diabetes Mellitus

Selveindran Nalini M , Wong SL Jeanne , Hong Janet YH , MZ Fuziah

Introduction: Type 1 diabetes mellitus (T1DM) is commonly associated with other organ – specific autoimmune disorders. Autoimmune thyroid disease (AITD) is the most common comorbid autoimmune condition in patients with T1DM. The occurrence of both T1DM and AITD is defined as Autoimmune Polyglandular Syndrome type 3 variant (APS3v). We sought to clarify thyroid autoimmunity in a cohort of Malaysian patients with T1DM.Methods<...

hrp0092p3-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Extreme Hypercalcaemia: Watch for Glycogen Storage Disease Type 1a with Hyperinsulinism

christesen henrik , Nielsen Rasmus G , Lund Allan M , Cananguez Arlen A , Schou Anders J

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...

hrp0089fc3.4 | Diabetes and Insulin 1 | ESPE2018

Is the Glycaemic Response from Fat in Meals Dose Dependent in Children and Adolescents with T1DM on Intensive Insulin Therapy?

O'Connell Susan M. , O'Toole Norma , Cronin Conor , Saat Chen , McElduff Patrick , King Bruce , Smart Carmel E.

Background: Management of people with T1DM on intensive insulin therapy (IIT) uses algorithms based on the meal carbohydrate (CHO) content (MCC) to calculate prandial insulin dose. Typically, these calculations do not consider the meal content of fat or protein.Objective: To determine if the postprandial blood glucose (BG) response to varying fat content is dose dependent when standard insulin bolus is given based on MCC.Methods: R...

hrp0089fc7.5 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Thyroid Hormone Levels in Cord Blood are Associated with Fetal and Neonatal Growth

Hansen Malene K. , Strandkjaer Nina , Frikke-Schmidt Ruth , Bundgaard Henning , Main Katharina M. , Iversen Kasper K.

Background: Normal function of the thyroid gland is essential for adequate neurological development of the fetus and child. In previous studies, associations between reduced birth weight and overt maternal and fetal thyroid dysfunction have been described. We hypothesize that also variations within the normal range of fetal thyroid function have an impact on fetal and neonatal growth.Objective: The aim of this study is to investigate whether thyroid horm...