hrp0084p3-1012 | Growth | ESPE2015

Case Report of Wolf-Hirschhorn Syndrome by Chromosomal Microarray Analysis: Importance of the Molecular Investigation for the Aetiological Diagnosis of Short Stature

Pinto Renata , Pinto Irene , Minasi Lysa , Cunha Damiana , Ribeiro Cristiano , Silva Claudio , Cruz Aparecido

Background: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Recent advances in genetic diagnosis are revolutionizing the clinician’s ability to obtain a molecular di...

hrp0084p3-1253 | Programming & Misc. | ESPE2015

Newborns with Longest Telomeres are Big at Birth and Have Most Lean Mass: Not Most Fat: in Late Infancy

Silva Marta Diaz , Lopez-Bermejo Abel , Toda Lourdes Ibanez , de Zeguer Francis

Background: Telomere length at birth is a major determinant of telomere length at later ages, up into senescence. However, the prenatal setting of telomere length is poorly understood. Individuals born large are at lower risk for later-life disorders, such as diabetes, than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and is already present in infancy.Objective and hypotheses: To asse...

hrp0094p2-418 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

46 XX, SRY negative testicular DSD presenting with VACTERL Syndrome

Suntharesan Jananie , Gunasekara Budhi , Lakmini Chamila , De Silva Uamd , Navoda Atapattu

Introduction: Sex determining region Y (SRY gene) located in chromosome Yp11.3, initiate gonadal differentiation into testes, which subsequently leads to development of Wolffian duct, male external genitalia, and regression of Mullerian duct. Not only SRY, SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10 contribute for gonadal differentiation. Imbalance of expression of above genes in the absence of SRY leads to 46, XX testicular DSD. We describe a case of 46...

hrp0094p2-305 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Anastrozole improves height prediction and near final height as monotherapy or in combination with growth hormone

Machado Pinto Renata , de Almeida Debora Ribeiro , Vitor Percussor Silva Joao ,

Introduction: The wide aromatization of androgens during puberty is responsible for the rapid bone maturation at this age. In this context, the use of aromatase inhibitors (AIs) has been justified by the potential to slow down the advancement of bone age and thus improve growth. For more than two decades, studies have pointed out the validity of AIs to improve the predicted final height (PFH). However, data on near-final height (NFH) of children treated with A...

hrp0097p1-81 | Fat, Metabolism and Obesity | ESPE2023

Comparison of HbA1c and OGTT for the identification of type 2 diabetes in obese children above 10 years of age.

A. M. Dimarsha de Silva U. , Askin Shereen , Jayamanne Bdw , Atapattu Navoda

Background: Childhood obesity is a growing global problem that linked with health issues including type II diabetes. Early screening and diagnosis using OGTT and/or HbA1c of obese children is recommended in order to minimize type II diabetic risk. OGTT requires fasting and two venesections impeding the child’s compliance. In contrast, hemoglobin A1c (HbA1c) is a convenient test and evaluation of HbA1C as a diagnostic tool of type II diabetes in the obese...

hrp0098rfc14.6 | Fetal and Neonatal Endocrinology | ESPE2024

Utility of Continuous Glucose Monitoring in hospital monitoring of patients with Hyperinsulinism

De Silva Shamani , Worth Chris , Worthington Sarah , O'Shea Elaine , Salomon-Estebanez Maria , Banerjee Indraneel

Introduction: Patients with hyperinsulinism suffer recurrent and severe hypoglycaemia. Inpatient glucose monitoring is currently via intermittent, infrequent fingerprick self-monitoring blood glucose (SMBG), and risks missing hypoglycaemia between tests. Continuous glucose monitoring (CGM) offers a supplementary therapy which may identify unexpected hypoglycaemia and ultimately reduce total exposure. However, CGM has never been evaluated for its efficacy in th...

hrp0098p1-213 | Adrenals and HPA Axis 3 | ESPE2024

Prematurity and low birth weight may be key indicators for a low peak cortisol on neonatal Short Synacthen Tests

Ahmed Aneeq , Hattangadi Ibani , Gopalakrishna Nagapratheek , De Silva Shamani , Elder Charlotte , Ferguson Elspeth

Background: There are multiple indications where evaluation of the Hypothalamic-pituitary-adrenal (HPA) axis in neonates may be considered e.g. hypoglycaemia, hypotension, conjugated hyperbilirubinemia; however permanent neonatal adrenal insufficiency (AI) is rare. Interpretation of results can be challenging due to a paucity of normative reference data in this population. This risks overdiagnosis and unnecessary treatment with corticosteroids leading to the a...

hrp0095p2-13 | Adrenals and HPA Axis | ESPE2022

Failure to Thrive as A Manifestation of Neonatal Cushing.

Isabel Scheidt Maria , de Assis Galan Camila , Cristina Pedroso de Paula Leila , da Costa Rodrigues Ticiana , Antonio Czepielewski Mauro , Guaragna Filho Guilherme

Failure to thrive is a term used to describe inadequate growth or the inability to maintain growth, which usually occurs in early childhood. Case report: female patient, 7 months old, referred to the pediatric clinic of Hospital de Clínicas de Porto Alegre due to a possible syndromic condition. He had no diagnosed comorbidity to date and was using only prophylactic ferrous sulfate and vitamin D. No family history of similar illness. Physical examination showed hypertric...

hrp0089fc1.6 | Adrenals & HPA Axis | ESPE2018

A Novel Stem Cell Model for the Triple A Syndrome

Da Costa Alexandra Rodrigues , Qarin Shamma , Bradshaw Teisha Y. , Watson David , Prasad Rathi , Barnes Michael R. , Metherell Louise A. , Chapple J. Paul , Skarnes William C. , Storr Helen L.

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...

hrp0097p1-67 | Fat, Metabolism and Obesity | ESPE2023

Percentage of Appendicular Skeletal Muscle Mass Reference and Association with Metabolic Syndrome in Korean Adolescents

Hye Lee Da , Kang Sung-Chan , Hwang Seung-sik , Jeong Lee Yun , Young Kim Hwa , Yong Lee Seong , Ho Shin Choong , Kim Jaehyun

Purpose: The association between appendicular skeletal muscle mass (ASM) and cardiometabolic risk has been emphasized. We estimated reference values of the percentage of ASM (PASM) and investigated its association with metabolic syndrome (MS) in Korean adolescents.Methods: Data from Korea National Health and Nutrition Examination Survey performed between 2009 and 2011 was used. Tables and graphs of reference PASM were ge...