ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Biol Chem. 2020;295:6876–6887.In this experimental study, Morishita et al. developed a CRISPR/Cas-9 mediated cell model to investigate the molecular effects of thyroglobulin (TG) accumulation in the endoplasmatic reticulum (ER) of thyrocytes, as is observed in the context of dyshormonogenic CH caused by TG gene mutations. TG accumulation in the ER is a result of TG mutations altering t...

To read the full abstract: PLoS One. 2019;14(12):e0226262. geraldine.delbes@iaf.inrs.caMale childhood cancer survivors (CCS) show reduced fertility, mostly due to low sperm count. The links between DNA damage caused by cancer and its treatment, pubertal stage at diagnosis and future infertility are still unclear. This Canadian pilot study analysed reproductive parameters and sperm characteristics...

To read the full abstract: JAMA. 2019 Oct 15;322(15):1515–1517. doi: 10.1001/jama.2019.12925.The authors merged data from separate national Swedish registers for births and obesity surgery and identified 2921 women who had a Roux-en-Y gastric bypass surgery between 2007 to 2014 (‘cases’) and subsequent pregnancies. Controls were identified as women without bariatric surgery ...

To read the full abstract: Horm Res Paediatr. 2018;90:407–413.Temple syndrome (TS) is a rare imprinting disorder caused by the dysregulation of imprinted genes in the chromosomal region 14q32 [1]. Most cases (approximately 70–80%) are caused by maternal uniparental disomy of chromosome 14. Paternal deletions and primary imprinting defects involving chromosomal region 14q32 can ...

Abstract: Endocrinology. 2018 Mar 1;159(3):1469–1478.In brief: In this article, a combination of microdissection, miroRNA profiling and transfection studies identify 3 microRNAs that are highly expressed in the proliferative zone and appear to be down-stream mediators of PTHrP signaling in the growth plate.Comment: In the growth plate, P...

To read the full abstract: J Obes 2018;16:76-81In this study, a lower level of serum omentin-1 and a higher level of vaspin were detected in pubertal obese children with MetS compared with obese children without MetS. MetS is characterized by central obesity, and increased visceral adipose tissue mass is associated with higher prevalence of insulin resistance; these pose risks for T2DM and cardio...

To read the full abstract: N Engl J Med 2017;377:2228-2239Paediatric endocrinologists often prescribe oral hormonal contraception preparations as these are convenient options for the management of various conditions in adolescent girls (e.g. polycystic ovary syndrome features, hypogonadism). Therefore, we should understand the possible adverse effects. This huge national database st...

Brief summary: This study investigated the brain structure in young adult patients with autoimmune Addison’s disease (AAD). It found that patients with AAD had a 4.3% smaller total brain volume but no major differences in subcortical structures compared to healthy controls.Both short- and long-term disruptions in cortisol concentrations and rhythmicity affect brain structure development. Animal studies have shown that both pre- and postnatal disturb...

Cardiovasc Diabetol. 2020 Oct 6;19(1):168. 10.1186/s12933-020-01143-z. PMID: 33023586.In brief: The impact of immigration on the risk of early-onset T2DM (before age 40 years) was assessed in a nationwide cohort. Data on 93 806 native Israelis and 27 684 Israelis of Ethiopian origin, assessed at a mean age 17.5 years, were linked to the Israeli National Diabetes Registry. After adjustment fo...

J Clin Endocrinol Metab. 2022; 107(1): 150-166. PMID: 34487152https://pubmed.ncbi.nlm.nih.gov/34487152/Brief Summary: This translational study determined the persistent visceral adipose tissue (VAT) transcriptomic alterations and epigenetic fingerprints induced by chronic hypercortisolism in patients with Cushing’s syndrome (CS) and in a reversible CS mouse model....