ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Int J Endocrinol Metab 2017; 15(3):e55451Systematic neonatal screening for congenital hypothyroidism (CH) was first proposed by Dr Jean Dussault, a Canadian (adult) endocrinologist, in 1974. It was rapidly implemented in most high-income countries in the late 1970’s and 1980’s. Ideally, a screening program should be highly sensitive (able to ...

To read the full abstract: Science 2017;358:1019-1027The gene-editing system CRISPR-Cas9 continues to surge through molecular biology labs and article titles. This article provides a new lab shelf, manipulating RNA, not DNA. This RNA editor could be used to treat conditions that are short term in nature, such as local inflammation. The RNA tool focuses on single-l...

Brief summary: This Iranian open label, quasi-experimental and matched controlled clinical trial included 59 girls with stage III–IV chronic kidney disease (CKD), short stature and delayed puberty. Patients were treated with GH (mean dose 0.05 mg/kg/day) and Ethinyl Estradiol (EE). Initial EE dose was 5 μg/day orally, doubled every 3–6 months to a maximum dose before growth plate closure 30 μg/day, and then increased gradually up to 500 μg/day. EE ther...

Brief summary: This cross-sectional and longitudinal study, nested in the Diabetes Care System cohort study from the West Friesland region of the Netherlands (n=990), assessed ‘social jet lag’ as the difference in midpoint of sleep in hours between weekdays and weekend days. Among working individuals with type 2 diabetes (T2D), this discordance between between social and biological rhythms (social jet lag) was associated with poor metabolic control. By contr...

Brief Summary: This longitudinal study describes the long-term effects of prenatal alcohol exposure on early childhood development. The results clearly show that prenatal alcohol exposure impairs growth and IGF-1 levels in children, highlighting the need for public health interventions to prevent alcohol consumption during pregnancy, especially in low-resource settings.This study assessed the long-term consequences of prenatal alcohol exposure (PAE) on e...

Brief Summary: This study tested a new biosensor, named depth-gated mid-infrared optoacoustic sensor (DIROS), which uses intravital mid-infrared optoacoustic signals, for accurate non-invasive measurement of glucose concentrations in blood-rich volumes of the skin. DIROS provided in-blood glucose measurements with better accuracy and sensitivity than methods that measured glucose in the interstitial fluid.Non-invasive glucose monitoring is an attractive ...

Brief Summary: This population-based cohort study estimated all-cause and cause-specific mortality in 108,061 individuals with newly diagnosed T2D, (16–50 years of age) compared to 829,946 individuals without T2D. Higher relative risks of mortality in younger individuals with vs. without T2D ranged from 4 to 11, depending on the cause of death.Comment: A decade ago, a Markov-like computer model simulated the life course of a hypothetical cohort of U...

Eur J Endocrinol. 2021 Apr;184(4):575–585. doi: 10.1530/EJE-20-1030. PMID: 33606663.These authors examined the likelihood of remission of diabetes without pharmacological therapy in a retrospective analysis of 34 Italian patients with Transient neonatal diabetes (TNDM).TNDM is a type of neonatal diabetes that remits within the first a few months of life. It is most ...

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...

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...