ESPE Yearbook of Paediatric Endocrinology

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: The authors provide the first description of antagonistic hormone mutations as the cause of congenital disease in humans. The paper describes detailed characterizations of two novel, antagonistic leptin mutations underlying a formerly unrecognized form of congenital leptin dysfunction and delineate the challenges these mutations pose to the diagnosis and therapy of the disease.After the initial description of biologically inactive leptin v...

J Clin Endocrinol Metab. 2021 May 13;106(6):1728–1741. doi: 10.1210/clinem/dgab080. PMID: 33571362This report gathered data from two large observational studies (NordiNet International Outcome Study and ANSWER Program) aimed at assessing the incidence of adverse drug reactions (ADRs), serious adverse events (SAEs), and their relation with rhGH dose. The whole study cohort included 37,7...

J Clin Endocrinol Metab. 2020 Oct 1;105(10):3243–3249 Abstract: https://pubmed.ncbi.nlm.nih.gov/32721016/In brief: X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and osteomalacia. The study used retrospective, pre-burosumab growth data from four different studies and constructed growth charts that demonstrate that the growth rate of children with...

J Clin Endocrinol Metab. 2021;106: e1002–e1013. https://pubmed.ncbi.nlm.nih.gov/33141175/This cross-sectional study applied a commonly used system to classify reproductive aging (Stages of Reproductive Aging Workshop +10 or ‘STRAW +10’) to 338 adolescents and young adult (AYA) cancer survivors (1). The study aimed to evaluate if STRAW +10 correctly identifies premature ovaria...

Blood Rev. 2021; 45: 100730. https://pubmed.ncbi.nlm.nih.gov/32654893/This practical treatment protocol was developed by an experienced multidisciplinary team following a critical and updated systematic review of the literature.Hypogonadism is a common finding after antineoplastic treatment. It can either result from a primary gonadal disorder (due to pelvic irradiati...

Front Cell Dev Biol. 2021 Jun 11;9:669354. doi: 10.3389/fcell.2021.669354. eCollection 2021. PMID: 34249923Brief Summary: This in vitro study analyzed the transcriptome of the developing thyroid gland in human embryonic thyroids compared to non-thyroidal human embryonic tissues and adult thyroid and adult non-thyroidal tissues. They identified four differently regulated sets of gen...

J Clin Endocrinol Metab. 2022 Feb 17;107(3):638-648. doi: 10.1210/clinem/dgab798. PMID: 34726229Brief Summary: This large monocenter retrospective cohort study (n=469) of patients diagnosed with congenital hypothyroidism (CH) identified predictors of transient vs. permanent CH. The authors developed a 4-item risk score (0-13 points) to be used from the age of 12 months on to predict t...

Eur J Endocrinol, 2021. 185(5): p. 691-705. PMID: 34516402Brief Summary: This study evaluated the prevalence of genetic variants in children with idiopathic short stature (ISS) using next-generation sequencing (NGS). Heterozygous variants in known genes involved in skeletal physiology were identified in almost 20% of children. The use of advanced genetic analysis techniques will lead to an increased identification of new genetic variants, expand...

Front Endocrinol (Lausanne). 2022 Mar 16;13:869019. doi: 10.3389/fendo.2022.869019. PMID: 35370973. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8966543/Brief Summary: This mouse study explores the function of alpha-tanycytes, which are neurogenic stem cells located in the medio-basal hypothalamus and expres...