ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study examined the complex process of sex determination in mice, with a specific focus on the role of WT1 isoforms, +KTS and -KTS, during gonadal development. The study provides insights into how the balance between these isoforms impacts sexual differentiation, with broader implications for understanding gonadal dysgenesis conditions, like Frasier syndrome.While the role of the SRY gene in testicular determination i...

Brief Summary: This study shows that obesity induces mitochondrial fragmentation and reduces oxidative capacity in white adipocytes through the activation of the small GTPase RalA. Targeted deletion of RalA in these cells prevents mitochondrial fragmentation, improves energy expenditure, and protects against obesity-induced metabolic dysfunctions, highlighting the critical role of RalA in obesity-related mitochondrial and metabolic abnormalities.Previous...

To read the full abstract: J Am Soc Nephrol. 2017 Aug;28(8):2529-2539The association of hyperinsulinaemic hypoglycaemia (HH) and polycystic kidneys has not been reported before. Here, the authors studied 17 patients from 11 different families and found that all patients had a combination HH and polycystic kidneys. The HH was mild and some patients required diazoxide therapy. In contrast the poly...

In Brief: The authors describe a wide range of studies. Firstly, observational studies showed that circulating taurine concentrations decline with age in mice, monkeys, and humans – and in the latter, low taurine was associated with metabolic disease (abdominal fat, blood pressure, Type 2 diabetes). They then gave oral taurine to mice throughout their lives and showed that this increased lifespan by 10–12% and improved functional outcomes of almost all tissues studie...

J Clin Endocrinol Metab. 2021 Jan 23;106(2):351–363. doi: 10.1210/clinem/dgaa857. PMID: 33236116.Here, the authors report the long−term outcomes of all 17 known, well−investigated cases of pituitary blastoma. The median age at diagnosis was 11 months, and the most frequent presentations were Cushing syndrome (n=10), cranial nerve palsies including ophthalmoplegia (...

Diabetes Care. 2021 Jan;44(1):35–42. doi: 10.2337/dc20-1520. PMID: 33184150.The key findings from this cohort of patients with ABCC8 neonatal diabetes mellitus (NDM) are: A) good glycaemic control is maintained over the long-term without any serious adverse events (including severe hypoglycaemia) despite high doses of sulphonylurea, B) some patients show improvements in neurologica...

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...

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...

Thyroid. 2020;30:1732–1744. doi: 10.1089/thy.2019.0825.This study is of importance, revealing a relevant clinical problem in patients under long-term levothyroxine (LT4) substitution and challenging the concept that all hypothyroid patients can be well controlled with LT4 monotherapy.Lacámara et al. present a small but elegant clinical study describi...

Matrix Biol. 2020 Aug;90:40–60 Abstract: https://pubmed.ncbi.nlm.nih.gov/32173581/In brief: Mutations in 3-hydroxylation complex genes CRTAP and P3H1 cause osteogenesis imperfecta type VII and VIII, respectively. However, the pathogenic mechanism by which these mutations cause disease remains unclear. This study points to a defective chaperone role of the 3-h...