hrp0098rfc7.1 | GH and IGFs | ESPE2024

Understanding the molecular basis of short stature in Fanconi Anemia: Impact of pappalysins and stanniocalcins on IGF-I bioavailability

Corredor Beatriz , Martín Alvaro , Zubicaray Josune , Sevilla Julián , Barrios Vicente , Argente Jesús

Introduction: The stanniocalcins (STCs) are inhibitory factors of the growth-promoting effects of IGFs through inactivation of pappalysins that favor the release of IGFs from their binding proteins (IGFBPs). STC1 can be involved in the cellular response to stress and plays an important role in cell cycle regulation. Patients with Fanconi Anemia (FA) are more sensitive to oxidative stress that could alter the expression of STC1. Our aim was to assess whether pa...

hrp0098p2-397 | Late Breaking | ESPE2024

The molecular genetic etiology of POI in non-Turner syndrome girls diagnosed in childhood or adolescence: A single-center experience

Akın Leyla , Yılmaz Ayşegül , Ilguy Muge , Aydın Murat

Background: Primary ovarian insufficiency (POI), characterized by amenorrhea with elevated gonadotropin concentrations, includes a spectrum ranging from 46, XX gonadal dysgenesis to premature menopause. There is increased evidence that it has a strong genetic basis in its etiology, however, since its rarity and special condition that does not permit the definition of families with this disorder, the molecular diagnosis remains elusive in most of these patients...

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...

hrp0098p1-274 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

Somatotropinomas in Pediatric Endocrinology Practice: Single Center Experience

Gürpınar Gözde , Uzuner Ayşe , Duman Öztürk Seda , Hürmüzlü Közler Selen , Koçyiğit Esra , Böke Koçer Gizem , Tuğçe Aygün Sibel , Gürkan Hakan , Emecen Ayyıldız Durdugül , Huw Jones Jeremy , Ceylan Savaş , Mine Çizmecioğlu Jones Filiz

Introduction: Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. In most cases, history, physical examination, and adjunctive biochemical, imaging, and/or molecular genetic testing will ultimately reveal the diagnosis.Methods: In this single-center study, demographic, clinical, endocrinological data of patients <19 years old who were followed up with the...

hrp0097fc3.5 | Fat, metabolism and obesity 1 | ESPE2023

Early corneal nerve loss in children with obesity and type 2 diabetes

Gad Hoda , Dauleh Hajar , Chirayath Shiga , Pasha Maheen , Haris Basma , Amin Rasha , Afyouni Houda , Petrovski Goran , Shehzad Saira , Khalifa Amel , Mohammed Ahmed Elwaseila , Mohamadsalih Ghassan , Campbell Judith , Jolkka Sari , Biglang-awa Roshirl , Cuatrona Erlinda , Inso Gina , Razon Gerald , A. Hendaus Mohamed , Elgassim Einas , N. Petropoulos Ioannis , Ponirakis Georgios , A. Malik Rayaz , Hussain Khalid

Background: Childhood obesity is highly prevalent in the MENA region and may be associated with sub-clinical neuropathy.Methods: Children with obesity with normal glucose tolerance (NGT), impaired glucose tolerance (IGT) and Type 2 diabetes Mellitus (T2DM) and healthy controls (HC) underwent body composition analysis, assessment of vibration perception threshold (VPT), monofilament sensitivity and corneal confocal micros...

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...

hrp0094p2-461 | Thyroid | ESPE2021

Early reassessment in congenital hypothyroidism

Grau Gema , Bertholt María Laura , Chueca María , Artola Elena , Fernández María Concepción , Sarasua Ainhoa , Rodríguez Amaia , Vela Amaia , Berrade Sara , Naranjo Cristina , Puges Laura , Diez Ignacio , Espada Mercedes , Ascunce Nieves , Porras Begoña , Rica Itxaso

Introduction: 2020 ESPE guidelines recommend early reevaluation in primary congenital hypothyroidism (PCH) with thyroid in situ (TIS) and with levothyroxine dose lower than 3 mg/kg/day.Materials and Methods: Our Congenital Hypothyroidism screening program determine TSH and TT4 in dried blood spot (DBS) at 48 hours of life. A second DBS (DBS2) is indicated when the first is positive. Multicenter retrospective study (05/2016-05/2020; 105...

hrp0098p2-176 | Growth and Syndromes | ESPE2024

What is The Most Effective Method for Predicting Adult Height in Boys with Constitutional Delay of Growth and Puberty?

Akın Kağızmanlı Gözde , Özalp Kızılay Deniz , Deveci Sevim Reyhan , Yüksek Acinikli Kübra , Mete Kalaycı Fulya , Tekneci Ayşegül , Demir Korcan , Böber Ece , Anık Ahmet , Özen Samim , Abacı Ayhan

Background: Predicted adult height (PAH) can be calculated using methods such as Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and BoneXpert based on bone age (BA) assessment. Since these methods were developed for healthy children, conflicting results have been reported regarding their effectiveness in different patient groups.Objective: This study aim ed to determine the most accurate method for PAH by comparing the...

hrp0095p1-392 | Thyroid | ESPE2022

Clinical Features, Risk Classifications and Long-Term Follow Up Of Childhood Differentiated Thyroid Cancer(DTC): A Single Reference-Center Experience

Aycan Zehra , Çetin Sirmen Kızılcan , Zeynep Şıklar , Elif Özsu , Fitöz Suat , Ceyhan Koray , Yağmurlu Aydın , Göllü Bahadır Gülnur , Ünal Emel , Taşyıldız Nurdan , Kır Metin , Soydal Çiğdem , Berberoğlu Merih

Background: Thyroid cancers are rare in childhood. ATA guideline (Pediatric section) has been applied in daily practice since 2015. It is very significant to accurately predict the risk in the management of differentiated thyroid cancer(DTC). For this purpose, we shared our single center-20-year-experience about the follow-up features and management of childhood and adolescent thyroid cancer. We aimed to evaluate the dynamic risk stratification (DRS) and the o...

hrp0094p1-1 | Adrenal A | ESPE2021

Optimizing the timing of highest hydrocortisone dose in children and adolescents with 21-hydroxylase deficiency

Schroder Mariska A.M. , van Herwaarden Antonius E. , Span Paul N. , Akker Erica L.T. van den , Bocca Gianni , Hannema Sabine E , Kamp Hetty J. van der , Kort Sandra W.K. de , Mooij Christiaan F. , Schott Dina A. , Straetemans Saartje , Tellingen Vera van , Velden Janielle A. van der , Sweep Fred C.G.J , Claahsen-van der Grinten Hedi L. ,

Context: Children with 21-hydroxylase deficiency (21OHD) require chronic glucocorticoid administration to substitute glucocorticoids and suppress adrenocorticotropic hormone-induced hyperandrogenemia. There is still no evidence about the best timing of the highest hydrocortisone (HC) dose. Administration of the highest dose in the morning aims to mimic the physiological rhythm of cortisol, while a high dose late in the evening may inhibit the early-morning inc...