ESPE Yearbook of Paediatric Endocrinology

BMJ 2021; 375:e067350 doi: 10.1136/bmj-2021-067350Comment: Do not miss this article from the Christmas edition of The BMJ published in 2021.Short Summary: With some ethanol assistance, the generation of 13 final checklist items and a flow diagram-guided structure of the checklist was produced by a single author who had multiple opinions. These guidelines direct...

To read the full abstract: Diabetes Care. 2018;41:303-310One of the major short term complications of T1DM is the imminent risk of hypoglycemia during insulin treatment. In addition and importantly, long term complications of diabetes include those induced by frequent hypoglycemia, namely neurologic and developmental impairment upon frequent hypoglycemic episodes at a young age. In addition, it is de...

To read the full abstract: J Clin Endocrinol Metab 2017; 102 (8): 2670-2677These case reports lead to an important conclusion which changes our diagnostic work-up of early-onset childhood obesity. The authors shows that thorough work-up of clinical cohorts, combined with genetic and epigenetic analyses, can define new characteristic features of known disorders. PHP1A, and surprisingly also PHP1B,...

To read the full abstract: Nat Metab 2019;1:1202–1208.Metformin has become a mainstay in the treatment of T2DM in over six decades of clinical use and is today one of the world’s most commonly prescribed drugs. Anti-diabetic properties of metformin rely on an inhibition of hepatic glucose output through AMPK-dependent, but also AMPK-independent effects (reviewed in (1)). Neverthel...

Nat Commun. 2021 May 11;12(1):2677. doi: 10.1038/s41467-021-22859-w. PMID: 33976139This work generated an integrated single nucleus multi-omics resource to elucidate the epigenetic mechanisms that regulate transcriptional networks in the murine pituitary. The authors identified epigenetically defined cell type composition, cell type-specific and sex-specific differences in transcription...

To read the full abstract: J Clin Endocrinol Metab, March 2020, 105(3):e70–e84A cohort of 21 adult males (aged 19 to 89 years) harboring hemizygous pathogenic IGSF1 gene mutations underwent anthropometry, endocrine testing, testis ultrasonography, and body composition assessment to define the pathophysiological role of IGSF1 in influencing GH secretion. In addition, two lines of Igsf1 -deficient male mice were use...

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...

To read the full abstract: Proc Natl Acad Sci U S A 2017;114:E11323-E11332The mechanism of thyroid hormone (TH) action is classically attributed to thyroid hormone receptor (THR) binding to thyroid hormone responsive elements (TRE) in promotors of target genes, directly controlling gene expression in target tissues. Thus, THRs alpha (TRa) and beta (TRb) function as TH dependent transcription ...

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...

In Brief: The 11th edition of the ‘Nosology’ is significantly expanded, now covering 771 conditions linked to 552 genes. In a major shift from previous editions, it has adopted a dyadic naming system that defines disorders based on both their phenotypic and genetic features. It continues to be a vital tool for diagnosing and communicating about genetic skeletal disorders.Commentary: The first Nosology of genetic skeletal disorders was published...