hrp0082p3-d1-623 | Adrenals & HP Axis | ESPE2014

Pseudohypoaldosteronism Type 1: Role of Urinary Steroid Profiling in Specific and Early Diagnosis: Lessons in Differential Diagnosis of PHA1 vs PHA2 (Renal Tract Anomaly)

Abbot V , Ghataore L , Pieterse D J , Chapman S , Kapoor R R , Taylor N F , Buchanan C R

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...

hrp0084p2-313 | DSD | ESPE2015

A Novel Human CYP19A1 Deletion-Insertion Mutation Reveals that the C-terminus of the Aromatase Protein is Crucial for its Activity

Ladjouze Asmahane , Sauter Kay-Sarah , Ouarezki Yasmine , Kedji Leila , Laraba Abdenour , Pandey Amit V , Fluck Christa E

Background: The steroidogenic enzyme aromatase is encoded by the CYP19A1 gene. Aromatase activity is required for estrogen biosynthesis from androgen precursors in the ovary and several extragonadal tissues. The role of aromatase and thus estrogens for human biology is best illustrated by disease states, both deficiency and excess which might be caused by genetic disorders.Aim: A novel deletion-insertion mutation spanning from intron 10 to the 3...

hrp0084p3-727 | Diabetes | ESPE2015

Single Centre Experience of Neonatal Diabetes

Nagesh V Sri , Hattersley Andrew , Ellard Sian , Sethi Bipin Kumar , Kanithi Ravishankar , Nalli Ravi Kumar , Kelwade Jayant , Parekh Harsh

Background: 6 patients with neonatal diabetes presenting to a single centre from April 2014 to March 2015 were studied for clinical presentation, biochemical findings of the disorder, genetics and treatment outcomes.Objective and hypotheses: Six children presenting to a single centre in South India were studied for correlation of disease with clinical features and genetics, suitability of current treatment regimens and treatment outcomes.<p class="ab...

hrp0084p3-850 | Fat | ESPE2015

Waist Height Ratio as a Marker of Obesity and Insulin Resistance in Adolescents

Nagesh V Sri , Sahay Rakesh Kumar , Kudugunti Neelaveni , Rao Vishnuvardhan , Hashmi Syed Mustafa , Vikram Aditya , Jiwani Sania , Hyder Sana

Background: Recent studies have shown a rising trend in pediatric obesity. However, studies dealing with the ultimate metabolic consequences of pediatric obesity and the means of accurately predicting these consequences are limited.Objective and hypotheses: To study the utility of WHtR as a marker of insulin resistance. To validate the presently used cutoffs (≧0.5) and validate its utility in populations studies.Method: 96 c...

hrp0094p2-184 | Fat, metabolism and obesity | ESPE2021

Assessment of DRD2 dopamine receptor gene rs6277 in pediatric obesity: a case-control study

Machado Pinto Renata , Alves Nygell S , Fortes Jakeline S , Monteiro Rubia V , Minasi Lysa B , da Cruz Aparecido Divino ,

Introduction: Obesity is a multifactorial disease resulting from an interplay between genetics and the environment. Metabolic, nutritional, psychosocial, and lifestyle factors participate, promoting various degrees of overweight or obesity. Pediatric obesity increases after infancy and is higher in early adulthood, showing a heritability of up to 85%. Genetic variants associated with BMI in children can exert their effects by affecting eating behavior, as is t...

hrp0095fc8.2 | Diabetes and Insulin | ESPE2022

Detection of anti-islet antibodies in capillary blood by the antibody detection by agglutination-PCR (ADAP) technology is sensitive and suitable for general population screening programs

Oron Tal , de Jesus Cortez Felipe , Shtaif Biana , Robinson Peter V. , Yackobovitch-Gavan Michal , Seftel David , Phillip Moshe , Tsai Cheng-ting , Gat-Yablonsky Galia

Background: Detection of type 1 diabetes (T1D) at the pre-clinical stage is possible by detecting islet autoantibodies (IA) years before the appearance of symptomatic diabetes. An efficient screening program based on these antibodies will identify children at risk of developing diabetes during childhood. The antibody detection Israeli research (ADIR) is a general population screening program in Israel searching for children with multiple IA who are at risk of ...

hrp0095p1-110 | Growth and Syndromes | ESPE2022

Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene

Cottrell Emily , V. Maharaj Avinaash , Triggs-Raine Barbara , Thanasupawat Thatchawan , Williams Jack , Fujimoto Masanobu , A. Metherell Louise , Hwa Vivian , Klonisch Thomas , Hombach-Klonisch Sabine , L. Storr Helen

Background: Silver Russell syndrome (SRS) is genetically heterogenous and around 30% of patients with clinical SRS have no genetic diagnosis. Mutations in HMGA2 have recently been identified causing growth failure and an SRS-like phenotype. Despite strong evidence of the crucial role of HMGA2 in growth across species, the mechanism of action of HMGA2 in human linear growth is unclear.Objective:...

hrp0092rfc9.2 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Age-Specific Reference Values for Plasma FT4 and TSH Concentrations in Healthy, Term Neonates at Day Three to Seven, and 13 to 15 of Life

Naafs J.C. , Heinen C.A. , Zwaveling-Soonawala N. , van der Schoor S.R.D. , Tellingen V. van , Heijboer A.C. , Fliers E. , Boelen A. , van Trotsenburg A.S.P.

Background: Congenital hypothyroidism (CH) is a common and preventable cause of mental retardation in children, and is detected using dried blood spots in many neonatal screening programs. Upon suspicion of CH, plasma free thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations are measured. CH can be of thyroidal or central origin (CH-T and CH-C, respectively). While CH-T diagnosis is based on an elevated plasma TSH in combination with a low FT4,...

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...

hrp0089p1-p017 | Adrenals and HPA Axis P1 | ESPE2018

Biochemical, Genetic and Molecular Characterization of a Novel P399_E401Dup Mutation in P450 Oxidoreductase (POR) Altering Several Enzymatic Activities in a Patient with a 46,XX DSD Phenotype at Birth

Boettcher Claudia , Parween Shaheena , Korsch Eckhard , Hartmann Michaela F , Udhane Sameer , Kagawa Norio , Fluck Christa E , Wudy Stefan A , Pandey Amit V

Background: P450 oxidoreductase (POR) mutations can present with disordered sexual development (46,XX virilisation as well as 46,XY under-masculinisation), perturbed steroidogenesis and mild to severe skeletal malformations. As POR is an obligate electron donating cofactor to many P450s, and as this interaction may vary from partner to partner, the phenotypic spectrum of PORD is extremely broad. Therefore, to characterize novel POR mutations, specific testing is required.<...