hrp0094p1-129 | Growth A | ESPE2021

Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome

Ciancia Silvia , Goedegebuure Wesley J. , Grootjen Lionne N. , Hokken-Koelega Anita C.S. , Kerkhof Gerthe F. , van der Kaay Danielle C. ,

Introduction: Genetic syndromes often show suggestive facial features that provide clues for the diagnosis. Considering the high number of genetic syndromes and the possible overlap of some features, memorizing facial gestalt is a challenging task for clinicians. DeepGestalt technology, and its app Face2Gene, has a growing impact on the diagnosis and management of genetic diseases by analyzing the features detected in one or more facial images of affected indi...

hrp0094p1-179 | Growth Hormone and IGFs B | ESPE2021

Novel dominant negative GH receptor variants provide important insights into GH receptor physiology

Andrews Afiya , Cottrell Emily , Maharaj Avinaash , Ladha Tasneem , Williams Jack , Metherell Louise A , McCormick Peter J , Storr Helen L ,

Background: Growth hormone insensitivity (GHI) encompasses normal/elevated growth hormone (GH), low IGF-I levels and growth restriction. Non-classical/mild-moderate GHI is an emerging entity which is poorly characterised, and, in many subjects, the underlying cause is unclear. Heterozygous dominant negative (DN) variants located in the intracellular/transmembrane domain of the GH receptor (GHR) cause a ‘non-classical’ GHI phenotype.<p class="abst...

hrp0095rfc3.2 | Early Life and Multisystem Endocrinology | ESPE2022

The Hypoglycaemia Error Grid: a UK-wide Consensus on CGM Accuracy Assessment in Hypoglycaemia due to Congenital Hyperinsulinism

Worth Chris , J Dunne Mark , Salomon-Estebanez Maria , Harper Simon , W Nutter Paul , Dastamani Antonia , Senniappan Senthil , Banerjee Indraneel

Background and Objective: Continuous Glucose Monitoring (CGM) is gaining in popularity for patients with paediatric hypoglycaemia disorders such as Congenital Hyperinsulinism (CHI), but no standard measures of accuracy or associated clinical risk are available. A small number of studies have shown suboptimal accuracy of CGM in CHI but assessments have been inconsistent, incomplete and offer no measure of clinical application. Error grids that categorise clinic...

hrp0095p1-556 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Surprisingly high frequency of pituitary stalk thickening in pediatric patients during COVID-19 pandemic in Chile.

Zepeda Diego , Peña Fernanda , Pablo Fernandez Jose , Okuma Cecilia , Naudy Cristian , J Guarda Francisco , Isabel Hernandez Maria

Introduction: Pituitary stalk thickening (PST) is a rare condition in pediatric patients. As there are few studies published in pediatric population, the definition has been difficult to establish. The etiologies involved in PST can be divided in neoplastic, congenital, inflammatory/infectious or autoimmune diseases. In children the most frequent causes are neoplastic, followed by congenital lesions. The inflammatory/infectious and autoimmune diseases are rare...

hrp0095lb19 | Late Breaking | ESPE2022

Early adrenal activation in boys with Cystic Fibrosis may explain impaired final height

Tamer Gizem , GM Arets Hubertus , K van der Ent Cornelis , M van Santen Hanneke , J van der Kamp Hetty

Background: Rapid BMI increase in early childhood was found to be a contributing factor for impaired final height in boys with Cystic Fibrosis (CF). This may be explained by early adrenarche triggering an accelerated bone maturation resulting in a compromised growth spurt during puberty, comparable to children with SGA. In healthy Dutch boys, adrenarche starts from the age of 9 years with DHEAS ≥ 1 µmol/L. In Dutch girls, the onset of adrenarche is fr...

hrp0095p2-89 | Diabetes and Insulin | ESPE2022

Design, certification and evaluation of an Insulin Infusion Therapy Care and Education Program (PAETII) in children/adolescents in a Pediatric Unit

J. Chueca Maria , Gabari Mercedes , Burillo Elisabeth , Berrade Sara , Herrero Sara , Francisco Laura , Lopez de Dicastillo Ana , Andres Carlos

A structured program of therapeutic education is essential to achieve a good result from the use of technology in the treatment of diabetes.Objectives: Facilitate knowledge, skills and aptitudes to patients and their families in therapy. Promote the capacity for self-management and adherence to treatment. Provide ongoing support to patients. Improve clinical outcomes, health status and quality of life.Metho...

hrp0092fc13.4 | Adrenals and HP Axis | ESPE2019

Biphasic Glucocorticoid Rhythm in One Month Old Infants: Reflection of a Developing HPA-Axis?

Hollanders Jonneke J. , de Goede Paul , van der Voorn Bibian , Honig Adriaan , Rotteveel Joost , Dolman Koert , Kalsbeek Andries , Finken Martijn J.J.

Background: The hypothalamus-pituitary-adrenal (HPA) axis displays a diurnal rhythm, peaking in the morning and with a nadir at night. However, not much is known about the development of the HPA- axis, although strikingly some evidence suggests that a rhythm with a peak in the afternoon is already present antenatally. We aimed to describe HPA-axis activity at age 1 month as well as study possible influencing factors.Methods</stro...

hrp0092rfc14.4 | Adrenals and HP Axis | ESPE2019

GHR Transcript Heterogeneity May Explain the Phenotypic Variability in Patients with Homozygous GHR Pseudoexon (6ψ) Mutation

Chatterjee Sumana , Rose Steven J , Mushtaq Talat , Cottrell Emily , Maharaj Avinaash V , Williams Jack , Savage Martin O , Metherell Loiuse A , Storr Helen L

Objectives: The homozygous GHR pseudoexon (6ψ) mutation leads to aberrant splicing of the GHR gene with clinical and biochemical heterogeneity. We investigated whether the phenotypic variability could be explained by transcript heterogeneity i.e. ratio of abnormal (6ψ GHR) to normal (WT GHR) transcripts and/or the presence of concurrent defects in other short stature (SS) genes.Methods: 6&#968...

hrp0092p1-42 | Fat, Metabolism and Obesity | ESPE2019

De-novo and Depot-Specific Androgen Production in Human Adipose Tissue - a Source of Hyperandrogenism in Obese Females

Wagner Isabel Viola , Sahlin Lena , Kulle Alexandra , Klöting Nora , Döbeln Viola , Savchuk Iuliia , Dötsch Jörg , Söder Olle

Background: Obesity in females is often associated with metabolic complications and hyperandrogenism but the role of adipose tissue (AT) in androgen synthesis remains unclear.Aims/Objectives: Employing human subcutaneous and visceral AT and cultured adipocytes, we studied whether AT could be a source of androgens promoting hyperandrogenism in lean and especially in obese females.Methods</st...

hrp0092p1-85 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Bone Mineral Density is Normal in Prepubertal Patients with Turner Syndrome when Corrected by Height/age

Dallago Renata Thomazini , Santos Allan Oliveira , Marmo Denise Barbieri , Guerra-Júnior Gil , Morcillo André Moreno , Lemos-Marini Sofia Helena Valente

Introduction: Turner's syndrome (TS) is associated with several manifestations the most frequent being short stature and hypogonadism. Some authors (Nadeem, 2012; Bakalov, 2008) reported that individuals with TS have increased risk of fractures, but the etiology and mechanism of bone fragility have not been yet fully elucidated and may be exacerbated by hormonal factors (Cintron, 2017; Soucek, 2015). Bone densitometry (BD) through the emission of double en...