hrp0089p1-p141 | GH & IGFs P1 | ESPE2018

Autosomal Dominant Growth Hormone Deficiency due to a Novel c.178G>A Mutation in the GH1 Gene Causing Instability of the Mutant GH Protein (p.Ala34Thr)

Miller Bradley , Tan Jimmy , Parween Shaheena , Eble Andree , Ternand Christine , Gregory Louise , Dattani Mehul , Pandey Amit

Background: The most frequent cause of familial growth hormone deficiency (GHD) is Type II autosomal dominant GHD (isolated GHD type II) due to several heterozygous GH1 mutations.Method: Genomic DNA from patients with familial GHD was enriched for the coding exons using hybrid capture technology and GH1 was sequenced using Next Generation Sequencing technology. Plasmids containing genes for WT and A34T GH1 were transfected into NCI HEK2...

hrp0086fc15.4 | Late Breaking | ESPE2016

Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions with Adrenodoxin

Legeza Balazs , Ma Nina , Zalewski Adam , Renthal Nora , Fluck Christa , Pandey Amit

Background: CYP27B1 converts 25-hydroxyvitamin D3 to active 1,25-dihydroxyvitamin D3, playing a vital role in calcium homeostasis and bone growth. Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1.Objective and hypotheses: Enzymatic and structural analysis of mutations in a patient with calcipenic rickets.Method: Two siblings presented with calcip...

hrp0086rfc6.6 | Syndromes: Mechanisms and Management | ESPE2016

Growth Hormone (GH) Deficiency Type II: Clinical and Molecular Evidence of Impaired Regulated GH Secretion Due to an Gln181Arg GH-1 Gene Mutation

Miletta Maria Consolata , Eble Andree , Arnhold Ivo J P , Dauber Andrew , Fluck Christa , Pandey Amit

Background: Main features of the autosomal dominant form of GH deficiency (IGHD II) include markedly reduced secretion of GH combined with low concentrations of IGF-I leading to short stature.Objective and hypotheses: We report on a girl referred for assessment of short stature (−4.6 SDS) at a chronological age of 7 yr 10 mo. The GH deficiency was confirmed by standard GH provocation tests, which revealed severely reduced GH and IGF-I concentration...

hrp0086p2-p796 | Pituitary and Neuroendocrinology P2 | ESPE2016

Severe Juvenile Hypertrophy of the Breast with Hypercalcaemia; Mastectomy v’s Reduction Surgery

McGregor David , Candler Toby , Selby Georgina , Crowne Liz , Rayter Zenon

Background: A 10 year old girl with a background history of severe autism and developmental delay presented with significant and rapidly progressive asymmetrical breast enlargement accompanying her relatively rapid progress through puberty. There was associated tissue breakdown exacerbating her discomfort and leading to increasing problems with anxiety and behaviour.Objective and hypotheses: To explore the aetiology of the huge breast development and the...

hrp0092p3-156 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Growth Status of Children and Adolescent Born Full Term Small-for-Gestational-Age in Korea: Data from the KNHANES-V (2010–2011)

Kim Ji Hyun , Kim Dong Ho , Lim Jung Sub

Background: Currently, little information is available on current growth status according to birth weight at gestational age (BWGA) on Korean adolescents. Herein, the current height and weight of Korean adolescents who were born as small for gestational age (SGA) were compared to those of the non-SGA groups.Methods: Data from the population-based nationwide Korean survey 5th Korea National Health and Nutrition Examinatio...

hrp0086wg5.4 | ESPE Diabetes Technology and Therapeutics Working Group | ESPE2016

Use of Dual Hormone (Glucagon) v. Single Hormone (Insulin) in the Treatment of Diabetes with Close-loop System

Nimri Revital

Background: Blood glucose levels are physiologically controlled by insulin and counter-regulatory hormones, mainly glucagon. Type 1 diabetes patients are deficient in insulin and some level also glucagon. Therefore, bi-hormonal closed-loop system seems to be the best way to control glycemia.Objective and hypotheses: There are two main approaches to add glucagon: (a) as safety measures for rescue in case of hypoglycemia (2) as a mean to optimize metabolic...

hrp0092p1-100 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

RNPC3 Mutations Associate Prolactin Deficiency and Ovarian Insufficiency, Expanding the Phenotype Beyond Isolated Growth Hormone Deficiency Type V (MIM#618860)

Martos-Moreno Gabriel Á. , Travieso-Suárez Lourdes , Pozo Jesús , Chowen Julie , Pérez-Jurado Luis A. , Argente Jesús

Background: The first three children reported to have biallelic mutations in RNPC3 presented with growth hormone (GH) deficiency and pituitary hypoplasia (MIM#618860). RNPC3 codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. The underlying mechanism causing GH deficiency in these patients is not fully understood. Moreover, whether the association of further ho...

hrp0082np1.1 | Micro-RNAs in Health and Diseases | ESPE2014

Non Coding RNA’s: Introduction to Non-Coding RNAs and the Role of MicroRNAs in GnRH Neurons

Prevot V

Fertility and puberty onset are controlled within the brain by a neural network that drives the secretion of gonadotropin-releasing hormone (GnRH) from hypothalamic neuroendocrine neurons. During postnatal development, various permissive signals must be integrated for the initiation of sexual maturation but the molecular events that orchestrate the timely activation of the GnRH neurons remain a major unsolved biological mystery. Increasing evidences point out Micro-RNAs (miRNA...

hrp0082p2-d2-608 | Thyroid (1) | ESPE2014

Iodine Nutrition and Neonatal Thyrotropin Levels in Lucknow, India

Bhatia Vijayalakshmi , Gopalakrishnan Vignesh , Joshi Kriti , Phadke Shubha , Dabadghao Preeti , Agarwal Meenal , Mootheden Cynthia , Das Vinita , Pandey Amita

Introduction: In India, newborn screening (NBS) for congenital hypothyroidism (CH) is not yet a national government policy. Preliminary information suggests neonatal TSH levels to be higher in expatriate Indian babies than those in European populations in developed countries.Objectives: To evaluate maternal urinary iodine and cord blood TSH in a subset of women participating in a postnatal NBS program for CH.Methods: Cord blood (CB...

hrp0086fc6.2 | Syndromes: Mechanisms and Management | ESPE2016

Whole Exome Sequencing Identifies EPHB4 and PIk3R6 as Causes of Generalized Lymphatic Anomaly

Li Dong , Wenger Tara , Seiler Christoph , March Michael , Tian Lifeng , Kao Charlly , Pandey Rahul , Nguyen Kenny , Chiavacci Rosetta , Sleiman Patrick , Itkin Maxim , Dori Yoav , Hakonarson Hakon

Background: Generalized lymphatic anomaly (GLA) is a rare congenital disorder characterized by aggressive proliferation of dilated lymphatic vessels. The etiology of GLA is poorly understood.Objective and hypotheses: To identify the underlying genetic basis for GLA.Method: Exome sequencing (ES) was performed in two families, including a multigenerational family (family-1) with six affected members. RNA-seq was performed on skin bio...