ESPE Yearbook of Paediatric Endocrinology

In Brief: These authors identify a frameshift truncating variant in the gene SPIN4 (Spindlin member 4) in a patient with skeletal overgrowth, hepatosplenomegaly and macrocephaly. Using state-of-the-art mouse models and histone peptide arrays, they delineate the underlying pathogenic mechanism and show that SPIN4 positively regulates Wnt signalling by functioning as an epigenetic reader.Commentary: Generalized overgrowth disorders are ch...

To read the full abstract: Pediatr Diabetes. 2018;19:1471–1480It has been debated whether or not new technologies, in particular the combination of insulin pumps and continuous glucose testing, will improve patient satisfaction and quality of life rather than only metabolic control and risk of microvascular complications. Indeed, the use of continuous subcutaneous insulin infusion (...

To read the full abstract: Clin Endocrinol (Oxf) 2020 May 13. doi: 10.1111/cen.14221. Online ahead of print.Children born either small for gestational age (SGA) or preterm usually do not achieve a final height (FH) in the mid-parental target height (MPTH) range, despite showing catch-up growth in the first years of life (1). The influence of intrauterine metabolic and hormonal factors has been p...

To read the full abstract: Nat Commun. 2020;11(1):1841. Published 2020 Apr 15. doi: https://pubmed.ncbi.nlm.nih.gov/32296068/This study by Kullmann et al. investigated the impact of brain insulin resistance on medium and long-term changes in body weight and body fat in adults at high risk for T2DM, undergoing a 24-months lifestyle intervention program (n =28 at the 24-mont...

To read the full abstract: J Urol. 2018 Apr 30. pii: S0022-5347(18)43073-X[Comments on 6.15 and 6.16] There is ongoing discussion regarding when extended genetic tests are indicated in DSD. There is also a discussion regarding what should be included in the definition of DSD. Are mild forms of hypospadias a type of DSD and where sho...

In Brief: The authors present ‘RETFound’, a self-supervised learning approach that has so far analysed 1.6 million retinal images to enable disease detection. RETFound shows good accuracy for diagnosis and prognosis of sight-threatening eye diseases. It also contributes to incident prediction of complex systemic disorders such as heart failure and myocardial infarction.The well-known saying ‘the eyes are the window to the soul’ means ...

To read the full abstract: Cell 2017;170:199-212 e20T2DM has a disproportionate impact on persons of Latin American descent. GWAS in Mexican and other Latin American samples identified a haplotype containing four missense SNPs, all in SLC16A11, that were much more common in individuals with Native American ancestry than in east Asian, European and African samples. The association was stronge...

Short summary: This study examined ex vivo the function of the sperm-specific CatSper-channel in almost 2300 men undergoing investigation for infertility. In 9 infertile men with normal semen analysis but pathologic sperm motility, biallelic variants in genes forming the CatSper-channel were found, either in CATSPER2 or CATSPERE. These men and their partners failed to conceive naturally and medically assisted reproduction (MAR) was successful only via intracytoplasmic...

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...