ISSN 1662-4009 (online)

ey0018.8-17 | Reviews | ESPEYB18

8.17. Pathogenesis and treatment of primary aldosteronism

MC Zennaro , S Boulkroun , FL Fernandes-Rosa

Nat Rev Endocrinol. 2020; 16(10): 578–589.https://pubmed.ncbi.nlm.nih.gov/32724183/In this review, the authors discuss the pathogenesis and treatment of primary aldosteronism (PA), the most frequent form of secondary hypertension (affecting 5% of patients with hypertension in primary care and 10–20% of those referred to specialist care). The pathophysiological basis of PA is auton...

ey0019.3-1 | Mechanism of the year | ESPEYB19

3.1. Neonatal thyroxine activation modifies epigenetic programming of the liver

TL Fonseca , T Garcia , GW Fernandes , TM Nair , AC Bianco

Nat Commun. 2021 Jul 21;12(1):4446. doi: 10.1038/s41467-021-24748-8. PMID: 34290257Brief Summary: Jaundice is a major clinical sign of congenital hypothyroidism. LT4 treatment in hypothyroid neonates normalizes jaundice rapidly by inducing hepatocyte maturation. This mouse model study investigated the molecular mechanisms of thyroid hormone induced hepatocyte differentiation. A postnatal a...

ey0018.3-11 | New Genes | ESPEYB18

3.11. Human type 1 Iodothyronine deiodinase (DIO1) mutations cause abnormal thyroid hormone metabolism

MM Franca , A German , GW Fernandes , XH Liao , AC Bianco , S Refetoff , AM Dumitrescu

Thyroid. 2021;31:202–207. doi: 10.1089/thy.2020.0253.This study describes a new genetic thyroid disease that might be unnoticeable in individuals with normal thyroid synthetic capacity, but may cause harm in all patients who are dependent on levothyroxine substitution such as congenital hypothyroidism, acquired hypothyroidism, or post-thyroidectomy.Three iodothyro...

ey0019.1-3 | Basic Science and Stem Cells | ESPEYB19

1.3. Generation of hypothalamic arcuate organoids from human induced pluripotent stem cells

WK Huang , SZH Wong , SR Pather , PTT Nguyen , F Zhang , DY Zhang , Z Zhang , L Lu , W Fang , L Chen , A Fernandes , Y Su , H Song , GL Ming

Cell Stem Cell. 2021 Sep 2;28(9):1657-1670.e10. doi: 10.1016/j.stem.2021.04.006. PMID: 33961804.Brief Summary: The authors established a novel protocol to generate hypothalamic arcuate organoids from human induced pluripotent stem cells, which could be utilized to investigate the arcuate nuclei development and the underlying mechanism of arcuate nucleus-related diseases. <p class="abst...

ey0015.8-2 | Mechanism of the Year | ESPEYB15

8.2 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

FL Fernandes-Rosa , G Daniil , IJ Orozco , C Göppner , R El Zein , V Jain , S Boulkroun , X Jeunemaitre , L Amar , H Lefebvre , T Schwarzmayr , TM Strom , TJ Jentsch , MC Zennaro

To read the full abstract: Nat Genet. 2018; 50(3): 355-361[Comments on 8.1 and 8.2] Primary aldosteronism (PA) is the most common form of secondary hypertension, affecting 3–5% of the general hypertensive population and 8–10% of patients referred to specialist hypertension services, although it is very rare in children (...

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...