ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: N Engl J Med. 2019;380:1316–1325.This large multicenter randomized double-blind placebo-controlled trial, in euthyroid women with thyroid peroxidase antibodies and a history of miscarriage or infertility, found no effect of levothyroxine substitution from before conception to the end of pregnancy on likelihood of live birth.In 2011, ...

Brief summary: This review article offers an update on knowledge on prophylactic gonadectomy in differences of sex development (DSDs) and evaluates the latest existing clinical evidence, which is generally limited, on risk of gonadal neoplasia potential in each group of DSDs.On average 15% of DSD patients with Y chromosome material predispose to gonadal neoplasms especially gonadal germ cell tumors (GGCTs); the overall risk ranges between 0.8% and 40% de...

Thyroid. 2020;30:1732–1744. doi: 10.1089/thy.2019.0825.This study is of importance, revealing a relevant clinical problem in patients under long-term levothyroxine (LT4) substitution and challenging the concept that all hypothyroid patients can be well controlled with LT4 monotherapy.Lacámara et al. present a small but elegant clinical study describi...

To read the full abstract: Psychosom Med. 2019, Sep; 81: 629–40. doi: https://www.ncbi.nlm.nih.gov/pubmed/31232913The cross-sectional European dsd-LIFE questionnaire study assessed self-reported health outcomes, including psychiatric diagnoses and symptoms, sexuality (1) and body image (2) in 1040 adolescents and adults with DSD from six European countries. It compared mental health...

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...

Program Collaborators for Environmental Influences on Child Health OutcomesJAMA Netw Open. 2022 Feb 1;5(2):e2146873. doi: 10.1001/jamanetworkopen.2021.46873. PMID: 35119461https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2788643/Brief Summary: This study describes the correlation between...

Brief summary: Growth Hormone (GH)-Insulin-Growth-Factor-1 (IGF-1) axis plays the major role in promoting growth, but novel factors seem to modulate GH-IGF1 axis functioning. The majority of circulating IGF-1 and IGF-2 are bound to IGF-binding proteins (IGF-BPs) which prolong their half-life and regulate their tissue distribution (1,2). Pappalysins (PAPP-A, PAPP-A2) increase IGF-1 bioavailability through cleavage of IGFBPs and are inhibited by stanniocalcins (STC1, STC2) (3,4)...

Brief summary: The incidences of T1D and T2D in children and young people increased in the USA over the last 2 decades. For the first time, the incidence of T2D has surpassed that of T1D.Comment: The SEARCH study has served as a national resource to explore the epidemiology and consequences of diabetes in the US. Published over the years, the findings contribute to understanding future trends in other parts of the world. Overall, the current report shows...

To read the full abstract: Diabetes Care 2017;40:1082-1089Transcription factor 7-like 2 (TCF7L2) is a protein encoded by the TCF7L2 gene located on chromosome 10q25.2-q25.3 and is involved in the development of a wide variety of cell lineages and organs. The rs7903146 <a href="https://en.wikipedia.org...

Nat Rev Endocrinol. 2022; 18(7): 399-412. PMID: 35411072https://pubmed.ncbi.nlm.nih.gov/35411072/Brief Summary: This review summarizes the current knowledge and understanding of the genetics of autoimmune Addison disease and its position in the wider field of autoimmune disorders.Autoimmune Addison’s disease (AAD) is caused by the destruction of the adrenal cortex...