hrp0094fc1.6 | Adrenal | ESPE2021

Tumor DNA methylation profiling as a prognostic marker for pediatric patients with adrenocortical tumors

Bueno Ana Carolina , da Silva Rui M P , Stecchini Monica F. , Gutierrez Junier M , Cardinalli Izilda A , Scrideli Carlos A , Junqueira Thais , Molina Carlos A F , Ramalho Fernando S , Tucci Silvio , Coeli-Lacchini Fernanda B , Moreira Ayrton C , Ramalho Leandra N Z , Brandalise Silvia R , Yunes Jose A , de Castro Margaret , Vencio Ricardo Z N , Antonini Sonir R ,

Abnormal DNA methylation contributes to tumor progression and is emerging as a prognostic marker in several types of cancers. To investigate whether DNA methylation is associated with pediatric adrenocortical tumor (pACT) presentation and patient prognosis, we analyzed the methylation profile of 57 tumors (MethylationEPIC BeadChip Array-Illumina) and patients’ clinicopathological features and outcome. The study comprehended 40 girls and 17 boys, with median age at diagnos...

hrp0095p1-6 | Adrenals and HPA Axis | ESPE2022

Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children

A. Musa Salwa , A. Abdullah Mohamed , S. Hassan Samar , Qamar Younus , Hall Charlotte , Maitra Saptarshi , V Maharaj Avinaash , Mariela Marroquin Ramirez Lucia , Read Jordan , Smith Christopher , F Chan Li , A Metherell Louise

Background: Primary adrenal insufficiency (PAI) in children is an uncommon condition. Diagnosis is usually challenging especially in resource limited settings where facilities for antibodies and genetic testing are constrained. Many genetic etiologies have been reported in children with PAI due to congenital adrenal hyperplasia (CAH) and Allgrove syndrome are the commonest identified genetic causes to date in Sudan. Studies from Africa are rare and here we des...

hrp0095p1-16 | Adrenals and HPA Axis | ESPE2022

Long-term follow-up of three male siblings with a novel NNT pathogenic variant causing primary adrenal insufficiency

Kotnik Primoz , Krasovec Tjasa , Sikonja Jaka , Zerjav Tansek Mojca , Debeljak Marusa , Ilovar Sasa , Trebusak Podkrajsek Katarina , Bertok Sara , Tesovnik Tine , Kovac Jernej , Suput Omladic Jasna , F Hartmann Michaela , A Wudy Stefan , Avbelj Stefanija Magdalena , Battelino Tadej , Groselj Urh

Nicotinamide nucleotide transhydrogenase (NNT) is expressed in the heart, thyroid, and testicles, where it maintains the balance of reactive oxygen species in the mitochondria. It is linked, by an insufficiently described mechanism, to primary adrenal insufficiency (PAI) with or without mineralocorticoid insufficiency and several extra-adrenal manifestations (i.e. gonadal adrenal rest tumors, cardiomyopathy, hypothyroidism, and precocious puberty). A comprehensive and chronolo...

hrp0095p1-213 | Adrenals and HPA Axis | ESPE2022

Alterations in glucocorticoid metabolism as a possible cause of hypertension in childhood obesity

Martijn JJ Finken , JG Wirix Aleid , A von Rosenstiel-Jadoul Ines , van der Voorn Bibian , JM Chinapaw Mai , F Hartmann Michaela , E Kist-van Holthe Joana , A Wudy Stefan , Rotteveel Joost

Introduction: Childhood obesity is associated with alterations in hypothalamus-pituitary-adrenal axis activity. We tested the hypothesis that multiple alterations in the metabolism of glucocorticoids are required for the development of hypertension in children who become overweight.Methods: Timed spot urine for targeted gas chromatography-mass spectrometry steroid metabolome analysis was collected from (1) overweight/hyp...

hrp0095p1-71 | Fat, Metabolism and Obesity | ESPE2022

Circulating mRNA and miRNA Signatures as Predictive Markers of Lifestyle Modification Outcomes in Pediatric Obesity Treatment

Gawlik Aneta , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Antosz Aleksandra , Kırkgoz Tarık , Turan Serap , Guran Tulay , Aversa Tommaso , Corica Domenico , A. Wudy Stefan , F. Hartmann Michaela , Hochberg Ze'ev

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for molecular markers to predict outcomes of LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%) recruited to a prospective ‘multi-OMICS’ study granted by ESPE Research Unit, 159 subj...

hrp0095p1-283 | Fat, Metabolism and Obesity | ESPE2022

Single Nucleotide Polymorphisms (SNPs) Profile as Predictive Markers of Lifestyle Modification Outcomes in Pediatric Obesity Treatment

Gawlik Aneta , Sobalska-Kwapis Marta , Antosz Aleksandra , Strapagiel Dominik , Seweryn Michal , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Kırkgoz Tarık , Turan Serap , Guran Tulay , Aversa Tomasso , Corica Domenico , A. Wudy Stefan , F. Hartmann Michaela , Hochberg Ze'ev

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for identifying common single nucleotide polymorphisms (SNPs) to predict positive outcomes of LSM in pediatric obesity management, defined as decrease in BMI z-score (based on IOTF).Patients/Methods: Out of 240 children with obesity (BMI>97...

hrp0095p1-137 | Multisystem Endocrine Disorders | ESPE2022

First description of a child with a biallellic loss-of-function variant in the sulfate transporter SLC13A1

JJ Finken Martijn , Bokenkamp Arend , EC Smith Desiree , MC Wamelink Mirjam , EW Jansen Erwin , A Struijs Eduard , Waisfisz Quinten , Verkleij Marieke , F Hartmann Michaela , Wang Rong , A Wudy Stefan , Paganini Chiara , Rossi Antonio , M van de Kamp Jiddeke

Introduction: Sulfation is required for the metabolism of numerous compounds, including proteoglycans, steroid hormones, neurotransmitters, toxic chemicals, and drugs like acetaminophen. The sulfate transporter SLC13A1 is responsible for the intestinal absorption and the renal reabsorption of inorganic sulfate, but loss-of-function mutations in this gene have never been described in man. Here, we describe a male with a biallelic loss-of-function variant, i.e.,...

hrp0092fc5.5 | Thyroid | ESPE2019

Identification of TRPC4AP as a Novel Candidate Gene Causing Thyroid Dysgenesis

Eberle Birgit , Choukair Daniela , Vick Philipp , Hermanns Pia , Weiß Birgit , Paramasivam Nagarajan , Schlesner Matthias , Wiemann Stefan , Roeth Ralph , Klutmann Carina , Hoffmann Georg F. , Pohlenz Joachim , Rappold Gudrun A. , Bettendorf Markus

Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...

hrp0092p1-7 | Adrenals and HPA Axis | ESPE2019

Influence of Internal Standards Choice on Quantification of 17α-hydroxyprogesterone (17OHP) Using Mass Spectrometric Based Methods

Greaves Ronda , Hartmann Michaela F. , Zakaria Rosita , Shun Ho Chung , de Rijke Yolanda B. , van den Berg Sjoerd , Cooke Brian , Hoad Kirsten , Graham Peter , Davies Stephen , Mackay Lindsey , Ping Loh Tze , Wudy Stefan A.

Objective: This project aims to evaluate the effect of two isotopically labelled internal standards on the quantification of 17OHP by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and gas chromatography-tandem mass spectrometry (GC-MS/MS) as an orthogonal technique.Methods: Three LC-MS/MS and one GC-MS/MS laboratories, spanning four countries worldwide, who routinely measure serum17OHP, compared two internal ...

hrp0092p1-53 | Fat, Metabolism and Obesity | ESPE2019

Age of Obesity Onset could be the First Indicator of Future Metabolic Complications – Preliminary Data of Prospective Multicenter Study

Gawlik Aneta , Wasniewska Malgorzata , Bereket Abdullah , Antosz Aleksandra , Aversa Tommaso , Corica Domenico , Kirkgoz Tarik , Turan Serap , Guran Tulay , Shmoish Michael , Wudy Stefan A. , Hartmann Michaela F. , Gruszczynska Katarzyna , Hochberg Ze'ev

Context: The unified approach for obese children can result in therapeutic failure as obesity is a symptom of several conditions. It was previously suggested that only children with obesity onset beyond age 6 years will develop the metabolic syndrome and T2D. In turn, early childhood obesity carries a few times less risk of adult obesity comparing to that with the onset during juvenility.Aim: We determine the clinical an...