ESPE Yearbook of Paediatric Endocrinology

anton.holmgren@regionhalland.se Pediatr Res. 2021 Jul;90(1):184–190. doi: 10.1038/s41390-020-01234-3.Brief Summary: This observational study compared the pubertal growth spurt of children in a Spanish study group with severe early onset obesity to children in a Swedish community-based study. The authors show that childhood obesity i...

To read the full abstract: Bone Marrow Transplant. 2020 Apr 24. doi: 10.1038/s41409-020-0914-5. Epub ahead of print. a.leiper@nhs.netAnti-Müllerian hormone (AMH), secreted by granulosa cells of growing pre- and early antral ovarian follicles, reflects the reserve of primordial ovarian follicles at any time from birth to menopause. Serum AMH leve...

To read the full abstract: J Clin Med. 2019;8(12):2204. sandrolavignera@unict.itThis cross-sectional study evaluated morpho-volumetric development of the testis, endocrine function and sperm parameters in 102 young adult childhood cancer survivors (CCS). About 1/3 of patients showed low testicular volume (<24 ml); the Hodgkin disease group showed significantly lower total testicular volumes, comp...

J Perinat Med. 2019 Apr 24;47(3):347-353. doi: 10.1515/jpm-2018-0201.This study measured 8-hydroxy-deoxyguanosine (8-OH-dG), a marker of DNA oxidative damage, in venous umbilical cord plasma from newborns of mothers with and without a diabetes diagnosis during pregnancy.Adult offspring born to mothers with gestational diabetes mellitus (GDM) have an increased frequency...

To read the full abstract: J Endocrinol. 2018 Jul 26.This study, using a mouse model, investigated the effects of high fat diet-induced maternal obesity on both fetal and adult offspring skeletal development.Maternal nutrition appears to influence epigenetic alterations in the offspring and to program gene expression in key metabolic pathways, such as fatty acids a...

Abstract: JCI Insight. 2019; Apr 4;4(7).In brief: This study describes a novel autosomal dominant form of primary osteoporosis caused by SGMS2 mutations in six families. A recurrent mutation p.Arg50* led to primary osteoporosis in four families, whereas missense mutations p.Ile62Ser and p.Met64Arg caused a much more severe bone phenotype with spondylometaphyseal d...

To read the full abstract: Sci Rep. 2019 Apr 30; 9(1): 6691.In recent years, improved knowledge of the metabolic risks in childhood cancer survivors (CCS) has increasingly focused research on modifiable factors and preventive strategies (1–2). It is well known that therapeutic irradiation can cause detrimental changes in body composition, but it is still unknown whether the specific...

To read the full abstract: Nature Communications, 2019; 10 (1); 662This paper highlights the brain as a key target for growth hormone (GH) signaling affecting mostly energy conservation. To identify GH response neurons, C57BL/6 mice received intraperitoneal injection of saline or GH and their brains were processed to detect the phosphorylation of pSTAT5 as a marker of GH receptor a...

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: 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...