ISSN 1662-4009 (online)

ey0021.4-14 | New Perspectives | ESPEYB21

4.14. Evaluation of the MC3R gene pertaining to body weight and height regulation and puberty development

Y Zheng , LS Rajcsanyi , T Peters , A Dempfle , SA Wudy , J Hebebrand , A Hinney

Brief Summary: This study examined the role of the melanocortin 3 receptor ( MC3R ) gene in regulating body weight, height, and puberty timing. It found an association between various non-synonymous variants (NSVs) in the MC3R gene with energy homeostasis and puberty.Melanocortin 3 receptor (MC3R) is a G protein-coupled receptor involved in the hypothalamic system that regulates energy homeostasis, growth and puberty (1,2). Recent studi...

ey0017.3-7 | Congenital hypothyroidism | ESPEYB17

3.7. DUOX2/DUOXA2 mutations frequently cause congenital hypothyroidism that evades detection on newborn screening in the UK

C Peters , AK Nicholas , E Schoenmakers , G Lyons , S Langham , EG Serra , NJ Sebire , M Muzza , L Fugazzola , N Schoenmakers

To read the full abstract: Thyroid. 2019;29:790–801.Patients with mutations in the dual oxidase 2 (DUOX2 ) gene – encoding a NADPH oxidase that generates hydrogen peroxidase for iodide organification – have been repeatedly reported as not being detected by neonatal screening because it causes only mild hyperthyrotropinemia at birth. Here, Peters et al. determined the incidence of DUOX2 and dual oxidase 2...

ey0015.3-12 | Pediatric thyroid cancer | ESPEYB15

3.12 Thyroid nodules in pediatric patients: sonographic characteristics and likelihood of cancer

DM Richman , CB Benson , PM Doubilet , HE Peters , SA Huang , E Asch , AJ Wassner , JR Smith , CE Cherella , MC Frates

To read the full abstract: Radiology 2018:171170Current American Thyroid Association (ATA) guidelines recommend the application of adult ultrasound criteria to classify thyroid nodules in children and adolescents1. However, few studies have evaluated the sonographic and demographic features that could predict malignancy in a large cohort of young patients with thyroid nodules.</p...

ey0018.3-8 | Congenital hypothyroidism | ESPEYB18

3.8. Congenital hypothyroidism: A 2020-2021 consensus guidelines update-An ENDO-European Reference Network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

P van Trotsenburg , A Stoupa , J Leger , T Rohrer , C Peters , L Fugazzola , A Cassio , C Heinrichs , V Beauloye , J Pohlenz , P Rodien , R Coutant , G Szinnai , P Murray , B Bartes , D Luton , M Salerno , L de Sanctis , M Vigone , H Krude , L Persani , M Polak

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...

ey0017.8-12 | New Hope | ESPEYB17

8.12. HSD3B1 genotype identifies glucocorticoid responsiveness in severe asthma

J Zein , B Gaston , P Bazeley , MD DeBoer , RP Jr Igo , ER Bleecker , D Meyers , S Comhair , NV Marozkina , C Cotton , M Patel , M Alyamani , W Xu , WW Busse , WJ Calhoun , V Ortega , GA Hawkins , M Castro , KF Chung , JV Fahy , AM Fitzpatrick , E Israel , NN Jarjour , B Levy , DT Mauger , WC Moore , P Noel , SP Peters , WG Teague , SE Wenzel , SC Erzurum , N Sharifi

To read the full abstract: Proc Natl Acad Sci U S A. 2020; 117(4): 2187–2193. PMID: 31932420.Since their discovery ~70 years ago, glucocorticoids (GC) have been widely used to elicit a systemic anti-inflammatory response, and currently play a major role in the treatment of asthma and other inflammatory diseases (1). However, unresponsiveness to GC in some individuals i...

ey0020.6-11 | New Genes | ESPEYB20

6.11. Identification of risk loci for primary aldosteronism in genome-wide association studies

E Le Floch , T Cosentino , CK Larsen , F Beuschlein , M Reincke , L Amar , GP Rossi , K De Sousa , S Baron , S Chantalat , B Saintpierre , L Lenzini , A Frouin , I Giscos-Douriez , M Ferey , AB Abdellatif , T Meatchi , JP Empana , X Jouven , C Gieger , M Waldenberger , A Peters , D Cusi , E Salvi , P Meneton , M Touvier , M Deschasaux , N Druesne-Pecollo , S Boulkroun , FL Fernandes-Rosa , JF Deleuze , X Jeunemaitre , MC Zennaro

Brief summary: This genome-wide association study (GWAS) reports the first genetic loci for risk of primary aldosteronism. New candidate genes and their potential mechanisms for the development of aldosterone excess are described.Primary aldosteronism (PA) is the most frequent form of secondary hypertension (5% of patients with hypertension in primary care and 10–20% of patients with hypertension referred to specialist care). PA is associated with c...