ESPE Yearbook of Paediatric Endocrinology

Brief summary: This retrospective longitudinal study included 5698 patients with multiple height measurements since birth to the near-adult age. The aim was to define different growth patterns of children from birth to 18 years corrected for gestational age, sex and auxological status at birth in order to early identify children at risk for adult short stature. Adult height was significantly reduced in preterm and/or in small-for-gestational-age (SGA) children, with no sex dif...

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...

Lancet Diabetes Endocrinol. 2020; 8(9): 748–761.https://pubmed.ncbi.nlm.nih.gov/32730798/The authors report the outcomes from the pivotal phase 3 trial in patients with Cushing’s disease of osilodrostat (a potent oral inhibitor of cytochrome P450 11B1, [mitochondrial 11β-hydroxylase]). Twice-daily osilodrostat rapidly reduced mean 24-h urine free cortisol (UFC) and sustained ...

Eur J Endocrinol. 2021 Nov 30;186(1):45-52. doi: 10.1530/EJE-20-1444. PMID: 34714772Brief Summary: This retrospective multicenter study examined the biochemical and neurocognitive outcomes of n=254 patients with congenital hypothyroidism (CH) at age 3 years, treated with either LT4 drops (n=117) or LT4 tablets (n=137). Overall, neurocognitive outcome was not different between the two treatment gr...

Brief Summary: this case-control study shows that the common genetic variants that influence pubertal timing in the general population also contribute to constitutional delay of puberty (CDP) and less significantly to normosmic idiopathic hypogonadotropic hypogonadism (IHH).CDP and IHH are two different conditions that are notoriously difficult to distinguish clinically on initial presentation. Because CDP has clear heritability traits1, and h...

J Cancer Surviv. 2021; 15: 259–272. https://pubmed.ncbi.nlm.nih.gov/32844376/Long-term treatment effects are possible reasons for reduced fertility and adverse pregnancy outcomes in childhood cancer survivors (CCS) (1). This observational study reports perinatal and health outcomes of offspring born to CCS using assisted reproductive technologies (ART). CCS were almost 2-fold more like...

Mol Cell Endocrinol. 2022 Apr 15;546:111570. PMID: 35051551, doi: 10.1016/j.mce.2022.111570. Brief Summary: This report emphasizes the importance of screening for copy number variants (CNVs) using parallel genomic techniques for diagnosing unsolved cases of complete androgen insensitivity syndrome (CAIS) as well as other DSDs, where traditional sequencing techniques fail to detect a genetic...

prahalad@stanford.edu Pediatr Diabetes 2022; 23: 228–236. doi: 10.1111/pedi.13278Brief Summary: Analysis of the multi-national SWEET diabetes registry showed that mean HbA1c in youth is highest at diagnosis and lowest at 4 to 5 months post-diagnosis. The HbA1c trajectory was lower in countries with nationalized health insurance. High gross domestic p...

To read the full abstract: Lancet Diabetes Endocrinol. 2019; 7(11): 855-865. PMID: 31542384A.Endogenous Cushing’s syndrome is a rare, serious endocrine condition characterized by chronic overproduction of cortisol (1). It is most often caused by a pituitary adenoma (i.e. Cushing’s disease), while other causes include ectopic ACTH secretion or primary adrenal neopl...

To read the full abstract: J Pediatr Hematol Oncol. 2020;10.1097/MPH.0000000000001766. doi:10.1097/MPH.0000000000001766 [published online ahead of print, 2020 Feb 28]. taftkamalden@um.edu.myChildhood cancer survivors (CCS) have a markedly increased incidence of early cardiovascular disease (CVD). Changes in retinal vessel diameter are associa...