ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Hum Reprod. 2020, May 15; 10.1093/humrep/deaa041. doi: https://academic.oup.com/humrep/articleabstract/35/5/1099/5837511This study provides a comprehensive reference of the protein-coding and non-coding genome from 24 testes and 24 ovaries of human fetuses. It used an RNA sequencing approach to investigate non-coding sequences, and to ident...

To read the full abstract: Disease Models & Mechanisms vol. 13,3 dmm040105. 13 Mar. 2020. doi: https://dmm.biologists.org/content/13/3/dmm040105.longThese authors developed an in vitro model to study human GnRH neuron transcriptome during developmental differentiation. Gonadotropin-releasing hormone (GnRH) neurons in the hypothalamus govern t...

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: Diabetes. 2019 Apr 8. pii: db190045. doi: 10.2337/db19-0045.This study assessed the incidence of permanent neonatal diabetes mellitus (PNDM) in patients with Trisomy 21.Patients with Trisomy 21 have an increased prevalence of autoimmune conditions, such as Type 1 diabetes, celiac disease, alopecia, vitiligo and autoimmune thyroid disorder...

To read the full abstract: Thyroid. 2018;28:959–67.This observational single center study aimed to identify predictors of transient versus permanent congenital hypothyroidism in patients with thyroid gland in situ diagnosed at birth. Strengths of the study are the prospectively documented clinical, biochemical and radiological parameters, the high inclusion rate, a...

J Clin Endocrinol Metab. 2019 Feb. doi: 10.1210/jc.2018-02288. [Epub ahead of print]Short stature is the most common reason for referral to pediatric endocrinologists. Familial short stature (FSS) is used to describe a child with a stature below the normal but within the parental target range and with at least one short parent.In the last years, there has been a widesp...

Abstract: Endocrinology, Volume 159, Issue 7, July 2018, Pages 2741–2758In brief: Eldecalcitol, a long acting active vitamin D3 analogue with lower affinity for vitamin D receptor and resistance to inactivation by vitamin D 24-hydroxylase, causes FGF23 resistance. This leads to complete restoration of renal phosphate transport and NaPi-2a protein levels and improves ra...

To read the full abstract: Eur J Endocrinol. 2019 May 1;180(5):281–290.This longitudinal prospective study of 61 children with a 5-10 years follow-up post severe traumatic brain injury evaluates the prevalence of pituitary deficiency and precocious puberty.In children, retrospective and prospective studies report variable rates of hypothyroidism...

To read the full abstract: Endocr Relat Cancer. 2019; 26(1): 103–117.Incidence of adrenocortical carcinomas shows a bimodal distribution, being more common in children <10 years and in adults aged 40–50 years. Their prognosis is poor, with only 10–25% 5-year survival. Ectopic expression of LHCGR and GNRHR has been reported in ACTH-independent adrenal hyperplasia ...

To read the full abstract: J Clin Endocrinol Metab. 2017 Sep 1;102(9):3261-3267At a histological level congenital hyperinsulinism (CHI) is classified into three forms, namely diffuse, focal and atypical. The atypical forms display histological mosacism (heterogeneous populations of islets, which appear to be resting or quiescent and localized to particular domains/lobes of the pancreas) but the m...