ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Indian J Pediatr 2018; 85(6):440-447In 2017, the population of India was estimated at 1.28 billion. With a birth rate of 19/1000, it means that 24.4 million babies are born each year in India. More than half of the births take place at home, in particular in rural India. Assuming an incidence of 1:2500 for congenital hypothyroidism (CH), close to 10,000 babies are b...

To read the full abstract: Lancet 2017; 390(10113):2627-2642Over the past 10 years, the prevalence of Type 2 diabetes (T2DM) has increased disproportionately in Africa, South East Asia, the Middle East and the Asia Pacific region. Interestingly, although we need more studies investigating the prevalence of T2DM in Latin America, the prevalence of T2DM in youth living in these countries do...

To read the full abstract: Lancet 2017;390:510-520It is well recognized that reproductive traits have major relevance to reproductive ‘fitness’ and are therefore among the most highly targeted by natural selection. Evolutionary theory argues that investment in reproduction requires trade-offs in other traits, which are likely to be disadvantageous for other vital functions, an...

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...

In Brief: This phase 1 study in healthy adults assessed the safety and feasibility of transcon-CNP, a novel prodrug that releases native C-type natriuretic peptide (CNP). The novel drug was well tolerated and CNP remained in systemic circulation for >7 days following a single dose.Commentary: Achondroplasia is caused by autosomal activating mutation in the fibroblast growth factor receptor 3 gene (FGFR3) resulting in constitutive receptor ac...

Brief summary: This article shows that intra-cerebroventricular injections of a recombinant adeno-associated virus expressing MKRN3 resulted in delayed puberty in female mice.MKRN3 loss-of-function mutation is the most frequent cause of familial central precocious puberty (CPP) (1).These authors investigated the effect of MKRN3 overexpression on pubertal timing, by generating a mouse model of neonatal hypothalamic Mkrn3 ov...

Brief summary: This prospective longitudinal study of childhood-onset inflammatory bowel disease (IBD) analysed areal bone mineral density (aBMD) and alterations of bone microstructure in 49 young adult male patients with childhood-onset IBD, compared to 249 controls from the same region and matched for age, sex and height.Dual x-ray-absorptiometry (DXA) is routinely used in clinical practice to evaluate aBMD and the related risk of fracture, but it is u...

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: Chemotherapy, radiotherapy and corticosteroids used to treat acute lymphoblastic leukemia (ALL) can have endocrine side-effects, such as adrenal insufficiency (AI). This cross-sectional single-centre study aimed to assess AI frequency after completion of ALL therapy, by comparison to healthy controls matched for age and sex, and to identify biomarkers of adrenal function and reserve.Study patients were at least 16 months post-completion of...

Brief summary: This review article discusses the influence of genetics on type 1 diabetes (T1D), particularly with regard to differences across diverse genetic ancestries, and the development of validated genetic risk scores (GRS) for use various populations. These may contribute to disease prevention and treatment.The autoimmune destruction of pancreatic beta cells is triggered by the interaction of genetic predisposition and environmental factors. T1D ...