ESPE Yearbook of Paediatric Endocrinology

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...

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...

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...

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...

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 (...

Brief Summary: This study marks significant progress in understanding ancient genomes, particularly in deciphering chromosomal sex, aneuploidies, and their broader historical and societal implications. By extracting and analyzing DNA from ancient remains, researchers have uncovered new insights into disorders of sex development (DSDs) that were previously inaccessible. These authors pioneered a computational method to identify sex chromosomal aneuploidies. This approach indepe...

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...