ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Sci Rep. 2017; 7(1): 7427Prenatal dexamethasone treatment has been suggested over three decades ago to prevent virilization of a female fetus affected with 21-hydroxylase deficiency due to genetic mutations in the CYP21A2 gene. However, current treatment guidelines for CAH regard this treatment still as experimental, mainly because follow-up studies of treated fetu...

To read the full abstract: Lancet Diabetes Endocrinol. 2018; 6(3): 173-185Adrenal insufficiency (AI), caused by adrenal failure (primary) or hypothalamo-pituitary failure (secondary), has a prevalence of 250–450 per 1 million (16). AI is potentially life-threatening and requires lifelong glucocorticoid replacement therapy. Modified-release hydrocortisone preparations have bee...

To read the full abstract: JCI Insight. 2018;3(2). pii: 98394The (human) adrenal cortex undergoes massive changes in structure and function from fetal to postnatal life, with the first consisting of a small outer definitive zone and a larger inner fetal zone, and the latter finally consisting of three distinct layers, namely the zona glomerulosa (ZG), fasciculata (ZF) and reticularis (ZR). Ho...

To read the full abstract: N Engl J Med 2017;377:633-643Proprotein convertase subtilisin/kexin type 9 (PCSK9) regulates levels of plasma LDL-C by interacting with the LDL receptor. After binding and internalization, PCSK9 directs the LDL receptor to lysosomal degradation and inhibits its recycling to the cell surface, and thus accelerates the degradation of hepatic LDL receptors. This reduces the ...

In Brief: This comprehensive review classifies the known high bone mass (HBM) disorders based on Gene Ontology (GO) nomenclature. The authors emphasize the importance of functional genomics in the discovery of new HBM genes and discuss strategies to improve understanding of the underlying pathogenic mechanisms and inform the development of therapeutic approaches.Commentary: HBM disorders are typically defined by a high areal bone marrow density (BMD) <em...

Brief summary: This in vitro study reports that fully potent oocytes were generated from pluripotent stem cells of the tail of a sexually mature male mouse. These oocytes were able to give rise to offspring after fertilization.A particular challenge in the care of DSD patients in adulthood is the optimization of fertility potential. Fertility outcome is significantly reduced in all types of DSD depending on the underlying etiology as well as the...

Brief summary: Using a combination of expression studies in human embryos as well as functional studies in zebrafish and genetic sequencing of patient with congenital hypogonadotropic hypogonadism, this study identified a novel role for Jag1/Notch signaling in the development of GnRH neurons.GnRH neurons have a unique characteristic as they start life in the olfactory placode and then migrate into the hypothalamus during embryonic development, thanks to ...

Brief summary: This longitudinal observational multicentre retrospective study, collected data on 95 young prepubertal or early pubertal girls (age >10.9 years, Tanner stage ≤2) with premature ovarian failure (POI) or hypogonadotropic hypogonadism (HH). Their hypogonadism was due to different causes and was treated with transdermal 17β-oestradiol, with a follow-up of at least 1 year. The study aimed to identify the most physiological and effective therapeutic sc...

Brief summary: This paper describes 18 patients with bi-allelic leptin deficiency (LEP, n=11) or leptin receptor deficiency (LEPR, n=7), including 10 new cases and two novel variants. In addition, in a review of the literature (until July 2022), the authors identified n=75 patients living with LEP deficiency and n=90 with LEPR deficiency (n=152 included for comparison between groups).<p class=...

Brief summary: The authors developed a model to estimate the worldwide prevalence of Type 1 diabetes (T1D) in 2040. Compared to 2021, when an estimated 8.4 million individuals had T1D (including 18% < 20 years), the prevalent cases are expected to increase to 13.5–17.4 million in 2040, with the largest relative increase taking place in low- and middle-income countries.This model, using published data (available from only 97 countries worldwide) ...