hrp0092p2-146 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Severe Neonatal Hyperparathyroidism Due to a Novel Homozygous Mutation of the Calcium-Sensing Receptor (CaSR)

hacohen solovitz amir , Tenenbaum-Rakover Yardena , Spiegel Ronen , Weinberger Jeffrey , Gillis David , Goor Zamir Gershon , Levine Michael A. , Almagor Tal

Homozygous loss-of-function mutations of the calcium-sensing receptor gene (CaSR) are associated with neonatal severe hyperparathyroidism (NSHPT), a life-threatening condition with a challenging treatment approach.We report a 7-day-old-female infant who was admitted to our Pediatric Department due to poor sucking. On examination she was lethargic and hypotonic. Laboratory evaluation revealed extreme hypercalcemia of 23.54 mg/dL (N: 7.6–10.4...

hrp0089p3-p125 | Fat, Metabolism and Obesity P3 | ESPE2018

NKX2-2 Human Mutation Causes Neonatal Diabetes followed by Severe Infantile Obesity Associated with Paradoxical Upregulated Ghrelin Levels – Do Beta-cells Secrete Ghrelin?

Auerbach Adi , Cohen Amitay , Lavi Eran , Abdulhaq Najwa , Shokrun Ariella Weinberg , Levy-Lahad Ephrat , Hemi Rina , David Zangen

Background: NKX2-2 gene mutation (reported in 3 cases worldwide) cause severe IUGR and neonatal diabetes. Beta-cells of the mice Nkx2-2 (−/−) model were recently shown to convert into cells producing the appetite-promoting peptide ghrelin. Classically, ghrelin secretion is stimulated during fast and suppressed by nutrients or glucose ingestion in all age groups. In obese children this ghrelin suppression reaches a minimum of 60% of base...

hrp0089p3-p142 | Fat, Metabolism and Obesity P3 | ESPE2018

Osse Registry for Patients with Lipodystrophy Run by the European Consortium of Lipodystrophy (ECLip)

von Schnurbein Julia , Schaaf Jannik , Cecarini Giovanni , Vantyghem Marie-Christine , Vatier Camille , Nagel Gabriele , Araujo-Vilar David , Wabitsch Martin

Introduction: The term lipodystrophy describes a rare disease subdivided into a heterogenous group of even rarer subforms. The rarity of this disease makes research in this area extremely difficult and international co-operation is mandatory to accumulate data sets of sufficient size. The European Consortium of Lipodystrophy (ECLip) consisting of an association of European experts in the field of lipodystrophy has therefore decided to set up a registry for patients with lipody...

hrp0089p2-p303 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Foot Length Growth is a Novel Marker of Early Puberty

Balzer Ben , Lun Cheng Hoi , Garden Frances , Luscombe Georgina , Paxton Karen , Hawke Catherine , Handelsman David , Steinbeck Katharine

Introduction: Pubertal growth is hormone dependent. The anthropometric (height, weight) and sexual (Tanner stage (TS)) changes are accompanied by growth in foot length. However, the relationship between changes in foot length and other anthropometry remains unclear. Our aim was to determine how changes in foot length relate to growth parameters (height and weight), self-rated TS and serum sex steroids.Methods: We used data from the Adolescent Rural Cohor...

hrp0086rfc6.8 | Syndromes: Mechanisms and Management | ESPE2016

The Actual Incidence of Small for Gestational Age (SGA) Newborns and their Catch-up Growth is Dramatically Lower than Previously Considered

Lavi Eran , Shafrir Asher , Libdeh Abdulsalam Abu , Stein-Zamir Chen , Friedman Smadar Eventov , shoob Hanna , Zangen David Haim

Background: SGA is defined as birth weight under 2 standard deviations (SD) from the mean. Previous studies indicate that 10% of SGA babies do not have “catch-up growth” (CUG). They are eligible for growth hormone (GH) therapy to increase final height. The unexpected low demand for GH therapy in SGA babies, triggered us to survey the actual incidence of SGA and failure in CUG.Objective and hypotheses: To find the actual incidence of SGA and fai...

hrp0086p2-p81 | Adrenal P2 | ESPE2016

Assessment of Cardiac Function in Children Followed up for Congenital Adrenal Hyperplasia: A Case Control Study in Cameroon

Tony Nengom Jocelyn , Sap Ngo Um Suzanne , Chelo David , Carole Mbono Betoko Ritha , Olivier Koki Ndombo Paul

Background: Diagnosis of congenital adrenal hyperplasia (CAH) is delayed in developing countries and children are long exposed to high levels of androgens. These androgens have deleterious effect on heart.Objective and hypotheses: Evaluate cardiac function of children followed for CAH and compared it to a group of healthy children.Method: We carried out a case-control study, 1 case for 2 controls matched for age and genotypic sex, ...

hrp0086p1-p349 | Gonads & DSD P1 | ESPE2016

Severe 5 Alpha Reductase 2 Deficiency with Aphallia is Caused by p.Y91H SRD5A2 Mutation and is Responsive to Dihydrotestosterone Administration During Childhood

Auerbach Adi , Weinberg Shokrun Ariella , Abdelhak Najwa , Lavi Eran , Hidas Guy , Landau Yehezkel , Levy-Lahad Ephrat , Zangen David

Background: 5-alpha-reductase-2 (5α-RD2) deficiency is an autosomal recessive 46,XY disorder of sexual development, characterized by undervirilized prepubertal males with ambiguous genitalia. The pubertal rise in testosterone and 5α-RD1 isoenzyme activity causes virilization, often resulting in gender assignment change. Early precise diagnosis which anticipate adult function is critical for treatment and gender assignment.Objective and hypothes...

hrp0086lbp12 | (1) | ESPE2016

An Analysis of Symptoms and Signs of Adrenal Insufficiency in Children with CAH Admitted to Hospital in Australia

Chrisp Georgina , Maguire Ann , Quartararo Maria , Falhammar Henrik , Hameed Shihab , King Bruce , Munns Craig , Torpy David , Rushworth R. Louise

Background: An adrenal crisis (AC) is a life-threatening complication of congenital adrenal hyperplasia (CAH). Despite modern therapies, children with CAH still present with symptomatic adrenal insufficiency (AI) and AC.Objective and hypotheses: The aim of the study was to determine the spectrum of symptoms and signs of AI in children with diagnosed CAH who were admitted to hospital for an acute illness, as well as to evaluate the use of stress dosing an...

hrp0082p1-d2-4 | Adrenals & HP Axis | ESPE2014

Mineralo and Glucocorticoid Deficiency in Early Infancy are Caused by a Founder Novel Mutation in the Nicotinamide Nucleotide Transhydrogenase Gene

Abu-Libdeh Abdulsalam , Weinberg-Shukron Ariella , Zeligson Sharon , Zhadeh Fouad , Carmel Liran , Renbaum Paul , Levy-Lahad Ephrat , Zangen David

Background: Nicotinamide nucleotide transhydrogenase (NNT) gene mutations have been recently shown to cause familial glucocorticoid deficiency (FGD), by decreasing reactive oxygen species (ROS) detoxification in adrenocortical cells. Affected infants present within the first few months with isolated glucocorticoid deficiency.Objective and Hypotheses: To study the genetic etiology of four cases presenting uniquely with neonatal addisonian crisis (both min...

hrp0082p1-d3-22 | Adrenals & HP Axis (1) | ESPE2014

Clinical Utility of Urinary Steroid Metabolite Ratios in Children Undergoing Investigations for Suspected Disorders of Steroid Synthesis

Lucas-Herald Angela , Rodie Martina , Lucaccioni Laura , Rankin Karen , Shaikh Guftar , McNeilly Jane , Shapiro David , Ahmed Faisal

Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis. Our aim was to investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.Methods: Ten ratios were calculated on steroid metabolite data analysed by GC-MS in urine samples collected between 2008 and 2010 from 94 children who were undergoing...