ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Lancet Diabetes Endocrinol. 2019;7:695–706.The hallmarks of MCT8 deficiency are severe psychomotor retardation due to intracellular hypothyroidism in neuronal tissues and peripheral T3 thyrotoxicosis associated low weight, muscle wasting, high normal or increased heart rate and systolic blood pressure. TRIAC – the T3 analogue 3,3’,5-tri-iodothyroacetic acid – enters target cells in an MCT8 independe...

Acta Diabetol. 2021 Mar;58(3):341–354. doi: 10.1007/s00592-020-01619-0. PMID: 33216207.The key findings of this multi-centre prospective cohort study were that neonates born to mothers treated for Gestational diabetes mellitus (GDM) (by lifestyle or medication, e.g. insulin or metformin) had high rates of macrosomia but similar adiposity to those born of mothers with normal glucose...

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 ...

Translational psychiatry 2022;12(1):59. doi: 10.1038/s41398-022-01817-0Brief Summary: This population genetics study explored pairwise genome-wide genetic correlations between neuropsychiatric disorders with insulin-related somatic diseases and traits. There were likely protective effects of obsessive-compulsive disorder and anorexia nervosa on the risks of having MetS, obesity and T2DM; i...

Science Advances, 2021,7:eabj5018 doi: 10.1126/sciadv.abj5018Brief Summary: The authors developed a liver-targeting adeno-associated virus (AAV) vector carrying C-terminal FGF23 (cFGF23) to inhibit FGF23 signalling in a mouse model for X-linked hypophosphataemic rickets (hyp-duk mice). They were able to show that a single injection of AAV cFGF23 rescued the hyp-duk phenotype.<p class="abst...

To read the full abstract: EBioMedicine. 2019 Apr;42:470–480. doi: 10.1016/j.ebiom.2019.03.013. Epub 2019 Mar 14. PMID: 30878599.Is everyone familiar with the MEHMO syndrome (OMIM #300148)? MEHMO is an acronym for mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. Previous studies show that patients with MEHMO carrying hemizygous se...

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...

To read the full abstract: J Clin Endocrinol Metab. 2019 Mar 28. pii: jc.2018-02559. [Epub ahead of print]This meta-analysis aimed to define the effect of mild to moderate iodine deficiency on child neurological outcome. The authors combined data from three large prospective national studies on 6180 mother child pairs with available urinary iodine and creatinine concentrations in pregnan...

Nat Commun. 2018 Dec 14;9(1):5319.doi: 10.1038/s41467-018-07784-9. PubMed [citation] PMID: 30552336Initial steps in the sex determination of the (human) testis depend on SRY regulating SOX9, but the exact mechanism that controls SOX9 expression remains unknown. These authors discovered four overlapping copy number variations (CNVs) upstr...

To read the full abstract: Nature 567, 43–48 (2019)Cell engineering might be a way to reinstall insulin-production in the pancreas of people with autoimmune diabetes. This experimental mouse study achieved to switch human alpha cells to secrete insulin.Cell-identity switches, in which terminally differentiated cells are converted into different cell types, rep...