ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Lancet 2018; 391(10133):1953-1964[Comment on 13.5, 13.6 & 13.7] Published just a week before the World Health Organization put out their first Essential Diagnostics List (http://www.who.int/medical_devices/diagnostics/WHO_EDL_2018.pdf), this series of 3 papers highlights the previo...

To read the full abstract: Lancet Diabetes Endocrinol 2018; 6:69-80The prevalence of T2DM in youth is increasing dramatically worldwide, but the bulk of the increase is expected to take place in Africa, South East Asia and South America. Although genetic factors may seem to be the obvious reason for such geographical differences, a careful analysis of the existing literature suggests that...

To read the full abstract: Pediatr Diabetes 2018; 19: (6) 1124In this cross-sectional study performed in Haiti, the authors found that 18% of the children and adolescents with diabetes had signs of retinopathy and that 16% had a cataract. This prevalence is clearly much higher than reported in young patients with diabetes living in high-income countries. Importantly, ocular complications occurred ea...

To read the full abstract: Lancet Glob Health 2017; 5(12):e1249-e1257This paper adds to the understanding of the factors underlying stunting in low-and middle-income countries (LMIC), a phenomenon that is adaptive to undernutrition, and associates with overall poorer health status and unfavorable social determinants of health. Previously thought to be secondary to predominantly individual...

To read the full abstract: Development and Psychopathology 2017;29:1517-1538Work in rodents, already some years ago, showed that epigenetic changes can be transmitted trans generations. This study shows that in humans, the simple act of touching during infancy has lifelong consequences on gene expression through epigenetic changes that sustain for at least 4 years. Children who were distresse...

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...

In Brief: Clinical symptoms of Pseudohypoparathyroidism (PHP) and related disorders present during late childhood and adulthood. This study found that newborns with this group of conditions require specific care at birth due to increased risk of neonatal complications.Commentary: Pseudohypoparathyroidism (PHP) and related disorders, newly referred to as inactivating PTH/PTHrP signalling disorders (iPPSD), are rare endocrine diseases. Their many clinical ...

Brief summary: This study further explores the sex differences in autoimmune regulation and the control of normal inflammatory responses, and also helps us understand why there are sex differences in the aetiology of autoimmune diseases such as systemic lupus erythematosus (SLE). It demonstrates the changes that occur in cisgender pubertal development on the T regulatory cell (Treg), B cell and monocyte population, and using samples from transgender adolescents undergoing GnRH...

Brief summary: This narrative review summarizes the important progress made in the past 10 years in our understanding of the genetics of primary bilateral macronodular adrenal hyperplasia (PBMAH).Primary bilateral macronodular adrenal hyperplasia (PBMAH) is an adrenal cause of Cushing syndrome, attributed to the disrupted integrity of the adrenal cortex zonation that is important for steroidogenesis (1). Nowadays, the diagnosis of PBMAH ...

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...