ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab, April 2020, 105(4):e1478–e1488Silver–Russell syndrome (SRS) is a rare condition associated with pre and postnatal growth retardation. The most common causes of SRS are 11p15 ICR1 loss of methylation (LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). Almost all patients with SRS have a history of intrauterine growth retardation (IUGR) and may be born small for gestational a...

J Clin Endocrinol Metab. 2020; 105(9): 3103–3107.https://pubmed.ncbi.nlm.nih.gov/32629476/In this narrative review, the authors discuss the potential role of novel regenerative therapies for the treatment of adrenal insufficiency, including gene therapy and cell replacement strategies. More specifically, the authors discuss the heterogeneity in adrenal function in patients with Addison...

To read the full abstract: Obesity 2018;26(4):776-781Here, Twig et al. shed light on an important, but not well investigated facet of the complex, multi-organ system chronic disease simply termed ‘obesity’. Using the large statistical power of this impressive, nation-wide database, the authors demonstrate high hazard ratios for obesity-related kidney mortality in a relatively young cohort...

joelh@broadinstitute.org Obesity (Silver Spring). 2021 Nov;29(11):1899–1906. doi: 10.1002/oby.23271. Epub 2021 Sep 21. https://pubmed.ncbi.nlm.nih.gov/34549538/Brief Summary: This longitudinal study assessed body composition in a cohort of children at ages 1, 3, and 6 months and 4 years (n...

Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based on these data, diagnostic yield was higher in patients with gland-in-situ, than with thyroid dysgenesis. Further studies performed NGS only in cohorts of patients with gland-in-situ, excluding thyroid dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication of Levaillant ...

Brief summary: Current guidelines for congenital hypothyroidism recommend a starting dose of 10–15 μg/d of levothyroxine for optimal treatment (1). Over the last years, some studies suggested that overtreatment of patients during infancy by high levothyroxine doses might have negative effects on neurocognitive and behavioral development (2). The presented multicenter prospective randomized trial aimed at comparing the effect of higher (12.5–15.0 μg/d levoth...

Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. PMID: 34663987.Brief Summary: This clinical study characterised the spectrum of novel diabetes phenotypes due to mutations in the Transcription factor One Cut Homeobox 1 (ONECUT1)/hepatocyte nuclear factor 6 (HNF6). The study uncovers novel forms of diabetes mellitus due to mutations in ONECUT1.<p cl...

To read the full abstract: Nat Commun. 2020;11:1343.Li et al. describe a new genetic mechanism causing Pendred syndrome and extend evidence for an oligogenic origin of congenital hypothyroidism (CH). Autosomal recessive mutations in Pendrin (PDS/SCL26A4 ) were described in 1997 to cause Pendred syndrome [1]. However, over the years patients with either only heterozygous or even no mutation in PDS/SLC26A4 have been diag...

To read the full abstract: Int Health 2018; 10; 66-70This article summarizes the concept of Developmental Origins of Health and Disease (DOHaD) and emphasizes its potential relevance to the marked increase in non-communicable diseases, including Type 2 diabetes, observed in low-resource settings. This is an important topic as the DOHaD concept may be a strong contributing factor to the develop...

Brief summary: This study identified a new role for GnRH in higher brain function using a rodent model of Down Syndrome. It reports for the first time an improvement of cognitive functions in patients with Down Syndrome treated with pulsatile GnRH.GnRH neurons are classically described as a population of neurons located in the hypothalamus and responsible for the activation and regulation of the hypothalamic-pituitary-gonadal axis. However, the recent de...