ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2017;102:2516-2524The Adult Health Study (AHS) is a clinical program established in 1958 by the Radiation Effects Research Foundation (RERF) as a subset of the Life Span Study to examine the late effects of atomic bomb exposure (1-2). This cross-sectional analysis evaluated the dose-response effect of radiation exposure on the prevalence of thyr...

To read the full abstract: Nature 2018;555:647-651An important model system in evolutionary developmental biology (‘evo-devo’) are the surface dwelling (surface fish) and cave adapted (cavefish) morphs which differ in numerous traits. Cavefish is a generic term for fresh water fish adapted to life in caves and other underground habitats. Living in darkness, pigmentation and eyes are use...

To read the full abstract: Lancet Diabetes Endocrinol 2017; 5:853-63 This prospective, randomized trial investigates the benefits of iodine supplementation (200 mcg per day) in pregnant women from Thailand and India on the neurological development of their children. Iodine readily crosses the placenta and is required for the synthesis of thyroid hormones by the fetal thyroid gland. In add...

To read the full abstract: Sci. Signal. 2018;11:eaap9415Women are more frequently affected by autoimmune disorders than men. A role for estrogen was suggested by the observation that the development of inflammatory bowel disease was associated with oral contraceptive use. Women also respond to infection and vaccination with higher antibody production and a T helper 2 (TH2) cell&#8211...

Brief summary: In 2021 and 2022, two important publications on pediatric thyroid carcinomas revealed a distinct molecular landscape compared to adult thyroid carcinomas (1,2). Pediatric differentiated thyroid carcinoma was mainly caused by fusion oncogenes, especially in children younger than 10 years (93%), compared to children aged 10–15 years (28%) and 15–20 years old patients (14%). In contrast, PTC due to BRAF mutations showed increasing frequency with age (7%, ...

In Brief: Current dogma is that lymphatic vessels are absent in bone and bone marrow. Using advanced 3D-imaging and mouse genetics, these authors show the presence of lymph vessels in bone. Moreover, they show that genotoxic stress causes lymph vessels expansion and lymphangiogenesis in bone, which in turn promotes bone and hematopoietic regeneration.Commentary: The lymphatic system maintains fluid homeostasis, removes cellular waste products and produce...

Brief summary: This cohort study explored the potential link between self-reported age at puberty and markers of male fecundity.In this article, the authors explored pubertal timing as a determinant of male fecundity. This cohort study was based on the Danish National Birth Cohort which consisted of around 100 000 mother-child pairs recruited during 1996–2002. A little more than 1000 men aged 19 were evaluated for semen volume, sperm concentration, ...

Brief summary: This study examined glycemic control following treatment with once-weekly exenatide 2 mg (Bydureon, AstraZeneca) in youth with T2D which was not optimally controlled. At 24 weeks, exenatide was superior to placebo in lowering HbA1c (least squares mean change, −0.36% with exenatide vs. +0.49% with placebo), with a between-group difference of −0.85%.Comment: The story of the development of exenatide is fascinating. It starts with...

Brief summary: This study describes the genetic and clinical characteristics of 3βHSD2 deficiency in children seen at a single center in Algeria. It describes clinical outcomes, including the frequency of adrenal rest tumors in this population.3β-hydroxysteroid dehydrogenase 2 deficiency (3βHSD2) is a rare form of congenital adrenal hyperplasia. This mixed longitudinal and cross-sectional study was performed in a single Algerian center bet...

Eur J Endocrinol. 2021 Dec 1;186(1):65-72. PMID: 34714774, doi: 10.1530/EJE-21-0910.Brief Summary: This brief report describes a novel gene, PPP2R3C, in the pathogenesis of complete and partial XY and XX gonadal dysgenesis (GD).GD is a very rare condition with an estimated prevalence of 1–9 cases per 100,000 live-births. GD can be classified as either complete...