hrp0086p1-p48 | Adrenal P1 | ESPE2016

Cardiac Function in Pediatric Patients with Congenital Adrenal Hyperplasia

Mooij Christiaan F. , Pourier Milanthy S. , Weijers Gert , de Korte Chris L. , Claahsen - van der Grinten Hedi L. , Kapusta Livia

Background: Congenital adrenal hyperplasia (CAH) is characterized by cortisol deficiency and hyperandrogenism. Both hyperandrogenism and treatment with supraphysiological doses of glucocorticoids may cause unfavorable changes in the cardiovascular risk profile of CAH patients. Data on the cardiac function in CAH patients is scarce.Objective and hypotheses: To evaluate the cardiac function in pediatric CAH patients.Method: The cardi...

hrp0092p1-145 | Thyroid | ESPE2019

The Investigation of Genetic Etiology in Familial Cases with Congenital Hypothyroidism

Kardelen Al Asli Derya , Isik Fatma Büsra , Özturan Esin Karakiliç , Sözügüzel Mavi Deniz , Öztürk Ayse Pinar , Poyrazoglu Sükran , Parlayan Cüneyd , Cangül Hakan , Bas Firdevs , Darendeliler Feyza

Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this study was to determine the genetic and etiological factors of CH.Methods: 49 patients(female;n=24), from 24 families were included in the study. The data, collected retrospectively, consisted ...

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...

hrp0098p2-84 | Diabetes and Insulin | ESPE2024

Endocrine Evaluation in Patients with Cystic Fibrosis: A Retrospective Study from Single Tertiary Center

Uçar Mert , Turan Hande , Kılıç Başkan Azer , Karakaş Hasan , Altun İlayda , Velioğlu Haşlak Gökçe , Bingöl Aydın Dilek , Ayzıt Kılınç Ayşe , Evliyaoğlu Olcay , Bayramoğlu Elvan

Objectives: The incidence and importance of endocrine comorbidities related to cystic fibrosis-related diabetes (CFRD) and bone diseases (CFRBD) increase with age. Recent studies have indicated that insulin deficiency in type 1 diabetes mellitus(T1D) may be associated with an increased risk of osteoporosis. Our study aims to evaluate the relationship between glucose metabolism and bone health in pediatric cystic fibrosis patients.<strong...

hrp0098p1-285 | Sex Endocrinology and Gonads 3 | ESPE2024

A Little Known But Very Common Phenotype in Patients with Congenital Neutropenia Due to HAX1 Deficiency: Premature Ovarian Failure

Özalp Kızılay Deniz , Yılmaz Karapınar Deniz , Karadaş Nihal , Karaoğlan Murat , Akbayram Sinan , Gökşen Damla , Gadashova Ayşe , Albayrak Serpil , Pekpak Şahinoğlu Esra , Koç Cansu , Ünüvar Ayşegül , Orbak Zerrin , Bıçakçı Zafer , Akın Leyla , Albayrak Canan , Anık Ahmet , Ziya Aral Yusuf , Ayça Cimbek Emine , Bahadır Ayşenur , Mete Cem , Özen Samim

Aim: Homozygous mutations in the HAX1 gene have been described in autosomal recessive severe congenital neutropenia (CN). In this rare disease, ovarian failure has been reported only in 9 female patients in the literature. There is insufficient data on childhood patients with HAX1 deficiency and the age of onset of ovarian failure is unknown. The aim of this cross-sectional study was to evaluate the gonadal functions and pubertal development in paedia...

hrp0086rfc1.6 | Adrenals | ESPE2016

Pediatric Patients with Congenital Adrenal Hyperplasia have Unfavorable Changes in their Cardiovascular Risk Profile

Mooij Christiaan F. , van Herwaarden Antonius E. , Roeleveld Nel , de Korte Chris L. , Kapusta Livia , Claahsen - van der Grinten Hedi L.

Background: Patients with congenital adrenal hyperplasia (CAH) are at risk of developing an unfavorable cardiovascular risk (CVR) profile. Data on the CVR profile in pediatric CAH patients are scarce.Objective and hypotheses: To evaluate the CVR profile of pediatric CAH patients.Method: A cross-sectional study in CAH patients (8–16 years) was performed (n=27). Blood was taken to evaluate several circulating CVR marker...

hrp0086fc11.1 | Thyroid | ESPE2016

Mutations in TBL1X as a Novel Cause of Familial Central Hypothyroidism

Heinen Charlotte , Losekoot Monique , Sun Yu , Watson Peter , Fairall Louise , Joustra Sjoerd , Zwaveling-Soonawala Nitash , Oostdijk Wilma , van den Akker Erica , Santen Gijs , van Rijn Rick , Dreschler Wouter , Surovtseva Olga , Biermasz Nienke , Hennekam Raoul , Wit Jan , Schwabe John , Boelen Anita , Fliers Eric , van Trotsenburg Paul

Background: Congenital central hypothyroidism (CeH) may occur isolated, or in combination with other pituitary hormone deficiencies. Although a third causative gene for CeH was recently reported (IGSF1), the aetiology of isolated CeH has remained unexplained in most cases.Objective and hypotheses: We hypothesized that in three relatives with unexplained isolated CeH a mutation in another gene might be responsible for the phenotype.<p class="...

hrp0097p1-257 | Fat, Metabolism and Obesity | ESPE2023

Risk Factors for becoming adult with obesity in survivors of childhoodcancer

Delacourt Laurene , Allodji Rodrigue , Chappat Juliette , Haddy Nadia , El-Fayech Chiraz , Demoor-Goldschmidt Charlotte , Journy Neige , Bolle Stephanie , Thomas-Teinturier Cécile , Zidane Monia , Rubino Carole , Veres Cristina , Vu-Bezin Giao , Berchery Delphine , Pluchart Claire , Bondiau Pierre-Yves , Dumas Agnès , Bougas Nicolas , Grill Jacques , Dufour Christelle , Fresneau Brice , Pacquement Helene , Diallo Ibrahima , Doz François , De Vathaire Florent

Purpose: The aim of this study was to identify risk factors for adult obesity in childhood solid cancer or lymphoma survivors (CCS).Patients and Methods: The study included 3199 patients of the French Childhood Cancer Survivor Study Cohort (FCCS) with 303 obese patients who had returned self-questionnaire. Analyses were adjusted on social deprivation index and sex.Results: CCS bein...

hrp0095rfc9.6 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Craniopharyngiomas diagnosed as incidentalomas - Results of KRANIOPHARYNGEOM 2007

Boekhoff Svenja , Bison Brigitte , Eveslage Maria , Sowithayasakul Panjarat , Beckhaus Julia , Friedrich Carsten , L. Müller Hermann

Purpose: Childhood-onset craniopharyngiomas (CP) are diagnosed due to clinical symptoms (symCP) or incidentally (incCP). In childhood-onset CP, studies on history before CP diagnosis have revealed symptoms and complaints related to CP, which were documented in CP patients’ records with a median duration of 5 months prior to CP diagnosis. We investigated clinical manifestations and outcome in incCPs and symCPs.Methods:</stro...

hrp0095p1-355 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Serum Ghrelin and Neuropeptide Y Concentrations and Their Relationship with Gonadotropins and Anthropometric Parameters in Girls with Idiopathic CEntral Precocious Puberty, Premature Thelarche and Premature Adrenarche

İzel Bizbirlik Zeynep , Kilic Sümeyra , Angin Ahmet , ERSOY Betül

Orexigenic molecules such as ghrelin and neuropeptide Y (NPY) can contribute puberty as directly or indirectly. Our aim is to investigate the changes in the levels of orexigenic peptides ghrelin and neuropeptide Y at the onset of puberty in girls with idiopathic central precocious puberty (ICPP), premature thelarche (PT) and premature adrenarche (PA), and to determine their relationship with gonadotropins and anthropometric parameters.Subjects an...