ESPE Yearbook of Paediatric Endocrinology

Diabetes Res Clin Pract. 2020;168:108372. doi: 10.1016/j.diabres.2020.108372Here, the Italian Society for Pediatric Endocrinology and Diabetology carried out a literature search in Medline and Embase and also Diabetes Societies websites until May 21st, 2020 for guidelines and recommendations on T1D management during the COVID-19 pandemic. They state that there is currently no evidenc...

J Clin Endocrinol Metab. 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. PMID: 34105732Brief Summary: This observational monocenter study analyzed cognitive scores of children with permanent (n=28, with athyreosis, ectopy or hypoplasia) vs. transient (n=11, with thyroid gland in situ) congenital hypothyroidism (CH) compared to healthy children (‘controls&#1...

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...

Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. PMID: 34906446.Brief Summary: This study extends the phenotypes related to pathogenic biallelic RNPC3 variants to cover primary ovarian insufficiency (POI) in combination with the previously associated growth hormone deficiency (GHD).The authors report 15 patients from 9 pedigrees with severe...

Brief summary: This study reports data from the full Kabi/Pfizer International Growth Database (KIGS), a large international database including 83803 children treated with rhGH for GHD and non-GHD conditions. The data confirm that rhGH is effective in increasing short-term height gain and adult height in various conditions and validate rhGH safety, with no new serious adverse events reported.KIGS (Kabi/Pfizer International Growth Database), first establi...

In Brief: Individuals with achondroplasia carry a lifelong burden of reduced physical and mental health. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) found that, across an individual’s lifetime, achondroplasia is associated with multisystem complications, reduced QoL and functionality, increased pain and increased healthcare resource utilization.Commentary: Individuals with achondroplasia present with a range of clinic...