ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Inflamm Bowel Dis. 2017;23:967-975Approximately one-third of children and adolescents with Crohn disease (CD) suffer from growth failure and delayed puberty, leading in some to psychological and social dysfunction, especially in boys. Pubertal delay in CD may also impact the normal growth spurt and lead to short adult height. The aim of therapy in children with C...

To read the full abstract: Cell 2017, Volume 171, Issue 2Here, the group of Jerrold Olefsky identified adipose tissue macrophages as important sources of microRNAs regulating metabolic processes not only within the adipose tissue depot, but also in an endocrine way in other distant tissues. The application of exosomes derived from ATMs isolated from obese mice caused insulin resistance both ...

Brief summary: In this study, 10 145 children of 1–8 years of age, selected from a prospective systematic cohort study and stratified according to HLA-risk categories for type-1-diabetes (T1D), underwent a combined evaluation of pancreatic autoimmunity, glucose metabolism and anthropometry at different timeframes. Diagnosis of T1D occurred in 131/10,145 children (1.3%). Faster height growth, both before and after age 3 years, was significantly associated with the appearan...

In Brief: The study established a novel rat model with a clinically relevant PLS3 mutation, which replicates the osteoporotic phenotype of early-onset PLS3-related osteoporosis. The findings suggest that treatment with alendronate or teriparatide improves bone mass and microarchitecture, suggesting their potential as effective treatments for early-onset osteoporosis caused by PLS3 mutations.Commentary: This study is an essentia...

Brief Summary: These authors developed a fully autonomous robotic ultrasound (US) system for thyroid scanning (FARUS). The system consists of a six-degree-of-freedom UR3 manipulator that carries a linear US probe, a US probe fixture, a six-axis force/torque sensor and a Kinect camera. Using reinforcement learning, Bayesian optimization, and deep learning, the system dynamically adjusts the probe position and performs real-time segmentation of thyroid tissue and potential nodul...

Brief Summary: This paper reviewed the toxicity of radiation therapy (RT) on ovarian, uterine and vaginal tissue in childhood cancer survivors (CCSs), using data published from 1970 to 2017. Overall, 11 studies reported data on ovarian damage, 8 on uterine volume related to treatment, and 3 on vaginal effects. Most studies did not report accurate dosimetric data and dose-volume relationships, and the confounder role of chemotherapy was not considered. In general, published dat...

Brief Summary: This retrospective study assessed the outcome of thyroid ultrasound (US) surveillance in childhood cancer survivors (CCS) exposed to radiotherapy (RT). 306 CCS were monitored with thyroid US. Patients received TBI (45%) and/or RT to craniospinal (44%), chest (11%), and neck regions (6%). Thyroid US surveillance was started at a median interval of 9.1 years after RT; 150 patients (49%) had thyroid nodule(s); 44 patients underwent surgery, and 28 had a final diagn...

Brief Summary: This review evaluated the impact of gene mutations in the leptin-melanocortin pathway on short- and long-term outcomes after bariatric surgery, which is still the most effective treatment for severe obesity. This topic is of high clinical relevance, since such mutations play an important role in hunger regulation and energy homeostasis [1, 2] and may therefore confer weight regain after bariatric surgery [3]. To date there have been few publications, often with ...

Brief Summary:This study reveals how castration resistant prostate cancers (CRPC) can produce androgens and become resistant to the inhibitor of androgen production abiraterone. The authors uncover dual phosphorylated-SREBF1 as a sensor of androgen deficiency. Its nuclear translocation and deposition of H2A-K130ac epigenetic marks activates a distinct transcription program that includes SREBF1. This will then lead to intratumoral cholesterol and androgen biosynthesis, liberati...

To read the full abstract: Science 2018;360:1087-1092During the Cardiovascular Risk Survey in western China, a Kazakh family with inherited low levels of LDL-C was identified. The Kazakhs are mainly descendent from the Turkic and medieval Mongol peoples, they live in isolated regions and usually marry within their own ethnic group. They exhibit often unique differences in single nucleotide vari...