ESPE Yearbook of Paediatric Endocrinology

Brief summary: Steroid analysis using LC-MS/MS in association with clinical parameters may be used to develop a diagnostic score that could successfully differentiate premature pubarche (PP) from non-classic congenital adrenal hyperplasia (NCCAH), thereby obviating the need for ACTH stimulation testing.Late onset, non-classic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency (21-OHD) should be ruled out in children with premature pu...

Brief summary: This study used a Delphi approach to generate consensus guidelines for screening of asymptomatic childhood cancer survivors for thyroid dysfunction and recommendations for the management of abnormal thyroid screening results.A Delphi panel of 40 clinical experts (oncologists, endocrinologists, and primary care physicians) participated in three rounds of anonymous questionnaires, formatted as clinical scenarios. Consensus was defined by agr...

In brief: This multinational, randomised, double-blind, placebo-controlled, dose-escalation Phase 2 study evaluated the safety and efficacy of TransCon CNP (navepegritide), a C-type natriuretic peptide (CNP) analogue designed to allow continuous CNP exposure with once-weekly dosing, in 42 children with achondroplasia aged 2-10 years. The study was sponsored by Ascendis Pharma.Commentary: Achondroplasia is one of the most common constitutional bone disord...

Brief Summary: This double-blind, randomized trial, showed that 2 dosing regimens of alirocumab, a human monoclonal antibody to proprotein convertase subtilisin kexin type 9 (PCSK9), reduced LDL-C in children as young as 8 years with heterozygous familial hypercholesterolemia inadequately controlled by statins. Efficacy was sustained over 2 years, and both regimens were generally well tolerated.Comment: Heterozygous familial hypercholesterolemia (HeFH) i...

Nature Metabolism. 2020;2(2):192–209. doi: 10.1038/s42255-020-0171-3.This experimental mouse study examined whether or not dedifferentiated β cells could be reversed or targeted by pharmacological intervention for diabetes remission. They identified evidence for β-cell dedifferentiation and dysfunction which could be reversed by single and combined pharmacological approach...

To read the full abstract: Diabetes Care. 2017;40:1631-1640[Comments on 10.9 and 10.10] These two publications describe guidelines made by the international learned societies on the use of continuous glucose monitoring devices. It is important to learn from these publications that education and guidance are pivotal before continuous glucose...

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...

Clin Genet. 2020 Sep;98(3):303-307. doi: 10.1111/cge.13805. PMID: 32617964.In this case series, David et al. describe clinical features of 4 patients in 2 unrelated consanguineous families with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation. Three of the patients had MRI findings consistent with pituitary stalk interruption syndrome (PSIS), a congenital anomaly o...

Diabetologia. 2021 May;64(5):1133-1143. doi: 10.1007/s00125-021-05390-x. PMID: 33558985.In order to gain some insight into the potential mechanism/s of diminished beta cell function over time, this mouse model of CHI was developed with an activating GCK (Glucokinase) mutation. In the short term, the mice developed mild fasting hypoglycaemia (this was very mild with fasting blood glucose...

J Clin Endocrinol Metab. 2021;106(1):e1–e10. doi: 10.1210/clinem/dgaa510. PMID: 32816013This prospective observational study on a cohort of 255 adolescents with anorexia nervosa (AN) aimed to investigate the effects of nutritional restriction on linear growth and adult height. Whereas premorbid height did not differ from reference standards, girls with AN showed a mild but significantl...