ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nature 2020;580:235–238.These authors applied modern protein analysis to an ancient molar from a male Homo antecessor dated to 772–949 thousand years ago (kya) from the Sierra de Atapuerca in Burgos, Spain and also to dentine and enamel from a Homo erectus dated to 1770 kya. They found that the composition of these proteomes is similar to that of modern humans, including enamel-specific amel...

Abstract Link: Nat Genet. 2019 Jan;51(1):96–105.In brief: Gain-of-function mutations altering DNMT3A are identified as a new cause of microcephalic dwarfism. Modelling of the disease in mice show that the mutations abrogate DNMT3A binding to H3K36me2 and H3K36me3 and lead to aberrant DNA methylation of Polycomb-marked regions and therefore repression ...

To read the full abstract: Proc Natl Acad Sci U S A. 2018 Nov 6;115(45):E10758–E10767.The authors show for the first time that central AMP-activated protein kinase (AMPK), the major cellular energy sensor, interplays with Kiss1 to control puberty onset.AMPK is an indispensable cellular energy sensor (1). Beside its ability to directly sense ener...

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Brief summary: A newly developed mouse model of congenital ablation of Dicer in kisspeptin neurons was used to identify a role for miRNAs in kisspeptin neuron activity and control of reproduction.The last few years have seen a shift in paradigm with the discovery of epigenetic mechanisms regulating GnRH neuron activity and thus puberty and reproduction. In particular, miRNAs appear to play a crucial role in the maturation and function of the hypothalamic...

Brief Summary: This single-centre retrospective cohort study offers valuable insights into the trajectory of weight gain in a paediatric craniopharyngioma cohort over a mean follow-up period of 10.4 years, reinforcing the necessity for targeted interventions to address this issue.Craniopharyngioma poses a substantial clinical challenge in paediatric patients, primarily due to the risk of hypothalamic involvement. A particularly severe long-term consequen...

Brief Summary: This retrospective, observational, single centre study compared the risk of tumor progression or recurrence in 71 patients with childhood-onset craniopharyngioma (CP) who started GH replacement therapy (GHRT) with different latency from the end of tumor treatment.GHRT latency was defined as the time from end of CP treatment (last debulking procedure or radiotherapy, or from CP diagnosis for the 5 patients without any debulking procedure or...

Brief Summary: This retrospective, multicenter study examined patients who were diagnosed with congenital hypothyroidism (CH) through the newborn screening (NSP) program in Turkey. It assessed the prevalence of temporary congenital hypothyroidism (TCH), examined the causes of permanent congenital hypothyroidism (PCH), and identified laboratory and clinical indicators to distinguish TCH and PCH.Congenital hypothyroidism (CH), the most prevalent endocrine ...

JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. PMID: 33108146.Lodge et al. screened 28 patients with pituitary stalk interruption syndrome (PSIS) for mutations in the FAT/DCHS (FAT atypical cadherin/ Dachsous cadherin-related) family of protocadherins. FAT2 and DCHS2 putative damaging variants were found in 6/28 patients with ectopic ...

EMBO Rep. 2020;21:e50612. doi: 10.15252/embr.202050612.This zebrafish study identified and molecularly characterized adult transcriptionally different thyrocyte subpopulations even within the same follicle.It is well established that within a thyroid gland, follicles are heterogenous concerning functional activity. More active follicles are characterized by a high co...