ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This article presents the joint European Society of Endocrinology and Endocrine Society clinical guideline on the diagnosis and treatment of Glucocorticoid (GC)-induced adrenal insufficiencyComment: The prevalence of oral glucocorticoid (GC) use is ~1% in adults (1). The risk for glucocorticoid-induced adrenal insufficiency is evident. These guidelines provide both endocrinologists and general practitioners with guidance to manage such pat...

Brief Summary: This narrative review summarized 75 published studies on reproductive function in survivors of childhood, adolescent, and young adult Hodgkin lymphoma (HL). 41 papers reported on 5057 female HL survivors. Most young female survivors had regular menstrual cycles. The incidence of premature ovarian failure (POI) varied between 6-34%. Biochemical evidence for impaired ovarian reserve or function was frequent (low AMH 55–59%. elevated FSH 17–100%). 51 stud...

J Clin Endocrinol Metab. 2021 Mar 25:dgab190. doi: 10.1210/clinem/dgab190. PMID: 33765130. https://academic.oup.com/jcem/article-abstract/106/7/e2557/6188450?redirectedFrom=fulltextIn brief: This multicentre cohort study explores the frequency, long-term outcomes and potential p...

Cell Metab. 2020 Dec 1;32(6):951–966.e8. 10.1016/j.cmet.2020.10.001. PMID: 33080217. https://www.sciencedirect.com/science/article/pii/S1550413120305349?via%3DihubIn brief: This study reveals the critical role of hypothalamic ceramide synthesis in the induction of precocious puberty in obe...

J Clin Endocrinol Metab. 2021 Mar 25;106(4):1111–1128.https://pubmed.ncbi.nlm.nih.gov/33382876/In this multicentre patient cohort study, the authors investigated the use of targeted metabolomics to discriminate primary hypertension (PHT) from endocrine forms of hypertension (EHT). They identified 16 metabolites that help to discriminate between PHT and EHT.Arteri...

Genet Med. 2021 Dec;23(12):2443-2447.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34341520/In brief: In achondroplasia, longitudinal bone growth is inhibited resulting in severe, disproportionate short stature. In this open-label extension study of participants from the phase 3 study, daily subcutaneous injection of vosoritide during 104 weeks resulted in increa...

Eur J Endocrinol. 2021 Dec 1;186(1):65-72. PMID: 34714774, doi: 10.1530/EJE-21-0910.Brief Summary: This brief report describes a novel gene, PPP2R3C, in the pathogenesis of complete and partial XY and XX gonadal dysgenesis (GD).GD is a very rare condition with an estimated prevalence of 1–9 cases per 100,000 live-births. GD can be classified as either complete...

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...

To read the full abstract: PLoS biology vol. 17,11 e3000532. 7 Nov. 2019. doi: https://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.3000532This study unravels the role of the miR-30/Mkrn3 pathway in the hypothalamic regulation of puberty Puberty onset is triggered by a hypothalamic network of interconnected...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(1): dgz055. PMID: 31613957.Mineralocorticoid (MC) replacement therapy along with glucocorticoid (GC) replacement is crucial to avoid life-threating adrenal crises in Addison´s disease (AD) and in classical CAH (1–3). MC is administered with the aim of achieving plasma renin concentration (PRC) within the upper limit of ...