ESPE Yearbook of Paediatric Endocrinology

Nature, 2020. 580, 511–516.https://www.nature.com/articles/s41586-020-2199-7 The authors identify in mice a population of neurons in the vagal ganglia and brainstem that are activated by the direct delivery of sugar but not artificial sweeteners to the gut. They genetically engineered changes in this gut-to-brain circuit. Silencing of synaptic activity in this circuit prevented...

To read the full abstract: Science 2018;361:76–81.The tuberal nucleus (TN) is a hypothalamic region which is well described in humans but remains poorly defined in rodents. In this paper, the authors demonstrated by specific and sophisticated techniques the role of somatostatin expressing TN (TNSST) neurons in the control of food intake in mice. Interestingly, their resul...

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: Lancet 2018; 391(10133):1939-1952See comment on 13.7...

Nature 2020; 583: 596–602https://www.nature.com/articles/s41586-020-2499-yIn order to understand the cellular processes that underlie ageing, the authors performed plasma proteomics at 10 different ages across the lifespan of the mouse. They integrated these data with a parallel large study published alongside this paper in the same edition (1), which describes the ‘Mouse ...

Nat Commun. 2021 Apr 1;12(1):2028. doi: 10.1038/s41467-021-21712-4. PMID: 33795686.The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome with features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency of variable degree. All were identified to carry a gain−of−function mutation in BRAF.RASopathies encompass Noonan ...

Sex Dev. 2021;15(4):244-252. PMID: 34293745, doi: 10.1159/000515924.Brief Summary: This genetic study provides data of a large cohort of 140 patients with DSD who were screened for DHX37 variants.DHX37 emerges as a frequent cause of nonsyndromic 46,XY gonadal dysgenesis, and 46,XY testicular regression syndrome. Since the first description of the gene (1), <...

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...

To read the full abstract: Nat Genet. 2018; 50(3): 349-354See comment on 8.2...

Brief summary: This survey study addressed the question whether rare disease experts (n=238) would advise genetic neonatal screening for treatable genetic disorders. Most experts (87.9%) agreed that genetic analysis for a limited number of monogenic treatable conditions should be available to all newborns.Newborn screening has been introduced for diagnosing a few treatable congenital disorders at birth in apparently healthy newborns, in order to...