ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Clin Endocrinol Metab. 2018 Feb 1;103(2):740-747Polycystic ovary syndrome (PCOS) is characterized by oligo-amenorrhoea, clinical and/or biochemical hyperandrogenism, polycystic ovaries, infertility and, commonly, insulin resistance, hyperinsulinaemia, morbid obesity and type 2 diabetes. The insulin-sensitizing drug metformin ameliorates the endocrinopathy of PCOS by red...

To read the full abstract: Thyroid 2017;27:865-877This very complete paper reviews all available knowledge and information on three main aspects of a nuclear emergency and prevention of thyroid cancer by ingestion of potassium iodide: geographical, legal, logistic and communication aspects are discussed for an optimal protection of the population at risk in case of nuclear emergenc...

To read the full abstract: J Pediatr 2018. 196:71-76Fetal growth restriction describes a fetus who fails to achieve their biological growth potential, remaining smaller than its genetic potential, and occurs in ~10% of pregnancies [22]. FGR and SGA are terms that are often and wrongly used in an interchangeable way. SGA does not inevitably entail a pathological condition, b...

To read the full abstract: J Pediatr 2017; 187:206-12SRS is a clinically heterogeneous imprinting disorder. Although the understanding of its genetic basis has gradually advanced, about 40% of patients still have an unknown molecular defect. In subjects with unknown etiology, diagnosis is primarily clinical, based upon the Netchine-Harbison scoring system (NH-CSS) [31]. How...

To read the full abstract: J Endocr Soc 2017;1:1006-1011Besides its structural role in the extracellular matrix, aggrecan orchestrates a plethora of key mechanisms in endochondral ossification, such as embryonic morphogen distribution, regular indian hedgehog (IHH) / Sox9 expression and columnar chondrocyte orientation. Thus, homozygous loss-of-function mutations in the ACAN gene, encoding...

To read the full abstract: Sex Dev. 2017;11(5-6):269-274[Comments on 6.11, 6.12 and 6.13] Evidence for factors necessary for female sexual development are presented in the above 3 publications. Studies of 46,XX DSD individuals show compiling evidence for factors necessary for female development and to counteract...

To read the full abstract: J Pediatr Endocrinol Metab 2018; 31(6):601-608This article summarizes the findings of likely the largest program of neonatal congenital hypothyroidism (CH) screening in the world. This is a truly impressive effort. The overall incidence of CH was 1/2421, in line with other reports that also observed a relatively high incidence of CH in neonates born in Asia. However, a...

To read the full abstract: Nature Communications 2018;9:1544Obesity prevalence is generally higher in women than in men, and there is also a sex difference in body fat distribution. Sex differences in obesity can be explained in part by the influence of gonadal steroids on body composition and appetite; however, behavioural, and socio-cultural factors may also play a role. Here is th...

Brief summary: Treatment of Graves’ disease comprises anti-thyroid drugs, radioactive iodine ablation or total thyroidectomy (1,2). While definitive treatment of Graves’ disease is widely used in adults, anti-thyroid drug treatment is often used in the pediatric age group over years (1,2). The presented prospective monocenter study provides detailed information on quality of life of adolescents undergoing total thyroidectomy.Two recent studies ...

In Brief: Growth plate and articular cartilage have similar structures composed of distinct chondrocyte layers but they differ substantially with respect to their function and fate. This study combines transplantation experiments with cell tracing in rat with in vitrostudies to identify a novel mechanism by which synoviocytes act directly on chondrocytes to suppress endochondral and promote articular cartilage at the joint surface.Commentary: Gr...