hrp0092fc14.3 | GH and IGF3 | ESPE2019

PAPP-A2 Deficiency Induces Sex-Specific Changes in Hydroxyapatite-(CaOH) Crystallinity and the Effects of IGF-1 on Bone Composition in Adult Mice

Vargas Antonio , Rubio Leticia , Rivera Patricia , Christians Julian , de Fonseca Fernando Rodríguez , Chowen Julie , Suárez Juan , Argente Jesús

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a regulator of IGF-1 availability, causes postnatal growth failure in humans and mice, at least in part through dysregulation of bone size and density. The present study aimed to determine the effects of Pappa2 gene deletion and the response to recombinant murine IGF-1 (rmIGF-1) on femur microstructure and composition. Hydroxyapatite-related crystallography and ionic substitutions were analyzed by X-ray p...

hrp0098p2-154 | GH and IGFs | ESPE2024

Two Clinical Cases of Growth Hormone Insensitivity Overlapping Disorders: STAT3 Gain-Of-Function Syndrome and Meier-Gorlin Syndrome.

Del Medico Giulia , Consonni Filippo , Gambineri Eleonora , Stagi Stefano

Growth Hormone insensitivity (GHI) is characterized by short stature, GH resistance and IGF-1 deficiency. Classical GHI includes defects in the GH receptor and other genetic abnormalities downstream the GH cascade. Various short stature syndromes have phenotypes that overlap with GHI. This report discusses two cases of nonclassical GHI. Patient 1 is a boy with STAT3 gain-of-function syndrome (STAT3 GOF), characterized by immune dysregulation and growth failure. He developed ea...

hrp0095fc10.1 | GH and IGFs | ESPE2022

Growth hormone and childhood-onset craniopharyngioma: When to initiate growth hormone replacement therapy?

Quoc Adrien Nguyen , Kévin Beccaria , BriceñO Laura GonzáLez , Graziella Pinto , Boustani Dinane Samara , Athanasia Stoupa , Jacques Beltrand , Alix Besançon , Caroline Thalassinos , Stéphanie Puget , Thomas Blauwblomme , Claire Alapetite , Stéphanie Bolle , François Doz , Jacques Grill , Christelle Dufour , Franck Bourdeaut , Samuel Abbou , Rousseau Léa Guerrini , Amaury Leruste , Séverine Brabant , Magali Viaud , Nathalie Boddaert , Michel Polak , Dulanjalee Kariyawasam

Objective: Craniopharyngioma is a benign brain tumour with frequent local recurrence after treatment. Growth hormone replacement therapy (GHRT) is prescribed in children with growth hormone deficiency due to childhood-onset craniopharyngioma. The objective was to evaluate whether shorter time delay of GHRT initiation after childhood-onset craniopharyngioma completion therapy increased the risk of recurrence.Design: Our r...

hrp0082fc5.3 | Neuroendocrinology | ESPE2014

Loss of Function Mutations in pnpla6 Cause Hypogonadotropic Hypogonadism due to Impaired LH Release from Pituitary Gonadotropes

Topaloglu Ali Kemal , Lomniczi Alejandro , Kretzschmar Doris , Dissen Gregory A , Damla Kotan Leman , McArdle Craig A , Koc A. Filiz , Hamel Ben C , Guclu Metin , Papatya Esra D , Eren Erdal , Mengen Eda , Gurbuz Fatih , Cook Mandy , Castellano Juan M , Kekil M. Burcu , Mungan Neslihan O , Yuksel Bilgin , Ojeda Sergio R

Background: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.Patients and methods: We studied a cohort of multiplex families with GHS through autozygosity mapping and whole exome sequencing.Results: We identified patients from three independent families carrying loss-...

hrp0097fc14.3 | Late Breaking | ESPE2023

Deconvolution Analysis: GH secretagogue (LUM-201) enhances growth in individuals with moderate idiopathic Pediatric Growth Hormone Deficiency (iPGHD) by enhancing endogenous GH secretion and increasing IGF-1

Cassorla MD Fernando , Román MD Rossana , Linn Johnson PhD Michael , Avila RN Alejandra , Iñiguez MD German , Baier MD Ingrid , Said RN Daniela , Bruchey PhD Aleksandra , Smith MS Christopher , L. Brinks PhD Erik , C. McKew PhD John , B. Karpf MD David , O. Thorner MD Michael , DSc MBBS

An oral GH secretagogue (GHS), LUM-201, stimulates GHSR-1a receptor to enhance endogenous GH pulsatile release. In moderate iPGHD, pulses of GH are found but at reduced levels, resulting in decreased IGF-1 and poor growth. The impact of LUM-201 on GH profiles during treatment of such children has not been reported.Objective: To characterize GH profiles, defined by deconvolution analysis, based on GH concentration in a time series and its...

hrp0097p1-574 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Gonadal histopathology in 17beta-HSD deficiency and 5alpha-reductase deficiency

Boogers L.S. , Brüggenwirth H.T. , van Bever Y. , Hersmus R. , Bryce J. , Ahmed S.F. , Lucas-Herald A.K. , Baronio F. , Cools M. , Ellaithi M. , Globa E. , Güran T. , Hiort O. , Holterhus P.M. , MсElreavey K. , Niedziela M. , Stancampiano M.R. , Tosun B.G. , Wolffenbuttel K.P. , Oosterhuis J.W. , Looijenga L.H.J. , Hannema S.E.

Introduction: In various forms of XY disorders/differences of sex development (DSD) the risk of germ cell cancer is increased. In the 2006 DSD consensus statement this risk was estimated to be intermediate in 17beta-HSDtype3 deficiency (HSD17B3D) and low in 5alpha-reductasetype2 deficiency (SRD5A2D) but based on very few cases. Few studies have been performed since; therefore we aimed to review gonadal pathology in an international cohort with these conditions...

hrp0098p2-320 | Late Breaking | ESPE2024

Screening for celiac disease in children and adolescents with type 1 diabetes, what to do?

Pilar Achón Buil Ana , García-Boente Marina , Constanza Matus Sáez Tania , García Cuartero Beatriz , Alkadi Fernández Khusama , Martín Frías María , Corredor Andrés Beatriz , Roy Ariño Garbiñe , Yelmo Valverde Rosa , Belén Roldán Martín María

Introduction: The reported prevalence of celiac disease (CD) in paediatric patients with type 1 diabetes mellitus (T1D) ranges from 1.6 to 16.4%, with a tendency to increase in recent years. Most clinical guidelines recommend screening for CD at the diagnosis of T1D but conclude different recommendations regarding subsequent screening, hence the importance of providing new data in this population group.Methods: We presen...

hrp0098p2-337 | Late Breaking | ESPE2024

Abetalipoproteinemia: a case report

Fernando Arrais Ricardo , A. C. M de Medeiros Iluska , M. C. Maia Jussara , Chrystian V. de Azevedo Jenner , Cássia Barrionuevo Jaim e Viviane , Barboza Beltrão Cristine , B. M. M. de Almeida Yngra , Fernandes da Cunha Camila , Madeira de Almeida Thalita , Adonícia Gurgel Martins Kerlândia , Digilio Vieira da Silva Leopoldo

Introduction: Abetalipoproteinemia is a rare genetic disease with autosomal recessive inheritance, caused by biallelic mutations in the microsomal triglyceride transfer protein (MTTP) gene¹. Its worldwide prevalence is estimated at 1:1,000,000², with approximately 100 cases reported in the literature³. Epidemiological data on this pathology in Brazil are not found in the literature.Case Report: J.O.S.C, a ...

hrp0084p2-425 | GH & IGF | ESPE2015

Comparison of Baseline Parameters and Response to GH Treatment in 125 Children with Short Stature with Eight Different Diagnosis

Ioimo Irene , Mussa Alessandro , Vannelli Silvia , Feyles Francesca , Einaudi Silvia , Matarazzo Patrizia

Background: Response to rhGH treatment is variable among GH deficiency (GHD), GH insensitivity and several intermediate conditions.Aims and objectives: To compare baseline parameters and response to rhGH treatment in eight diagnostic categories of patients with short stature.Methods: We selected 125 prepubertal children presenting at least 2 years of rhGH treatment (mean 5.29 years, range 2–15.6 years), hormonal and clinic par...

hrp0098p1-151 | Fat, Metabolism and Obesity 3 | ESPE2024

An old disease: New problem. Why should pediatric endocrinologists recognize Wernicke's Encephalopathy due to thiamine deficiency?

Ozturk Gulten , Kahveci Ahmet , Bereket Abdullah , Turkdogan Dilsad

Introduction and Aim: Historically known as Beriberi, Wernicke's encephalopathy (WE), is a neurological emergency caused by thiamine (vitamin B1) deficiency. It's characterized by ophthalmoparesis and ataxia and carries a risk of permanent sequelae if not treated immediately. Diagnosis and treatment are often delayed because most cases don't present with typical history and neurological picture. With the advent of nutritional conditions worldwid...