ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This multicenter, international, retrospective study evaluated fertility potential and gonadal function in 326 adolescent and young adult cancer survivors. Risk factors for impairment included hematopoietic stem cell transplantation (HCT) conditioning regimen (myeloablative conditioning, MAC vs reduced-intensity conditioning, RIC).The prevalence of gonadal hormone failure in females was 55.3% (defined as FSH >30 mIU/mL with an estradio...

In Brief This phase 3 trial including 966 adults with biopsy-confirmed non-alcoholic steatohepatitis (NASH) with fibrosis were randomly assigned (1:1:1 ratio) to once-daily resmetirom 80 mg or 100 mg or placebo. Resmetirom, both 80 and 100 mg daily, were superior to placebo with respect to NASH resolution and improvement in liver fibrosis.NASH resolution occurred more frequently in patients on 80-mg (25.9%) and 100-mg resmetirom (29.9%) than on placebo (...

To read the full abstract: Nat Genet 2017;49:1231-1238This large international initiative is a major collaboration across 25 research institutes that was set up as part of the scientific community’s response to concerns regarding the notoriously poor reproducibility of scientific research. Up to now, many mouse gene knock-outs have been made and reported, but inconsistency between finding...

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...

Brief Summary: This translational study reveals a novel mechanism underlying syndromic gonadal dysgenesis (GD). It introduces a condition termed INDYGON syndrome (Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY GONadal dysgenesis).46,XY gonadal dysgenesis (GD) is a rare disorder of sex development (DSD) affecting 1-9 per 100,000 live births. Gen...

Brief Summary: This prospective natural history study examined the timing and positive indicators for reshaping of vertebral fractures (VF) in glucocorticoid (GC)-treated patients with chronic diseases. Complete VF reshaping occurred in 82.3% of patients, with similar frequencies in all diagnosis groups (leukemia, rheumatic disorders and nephrotic syndrome) in a median time of 1.3 years. Likelihood of VF reshaping was positively related to higher lumbar spine bone mineral dens...

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 ...

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 (...

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...