ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Clin Endocrinol Metab. 2018 Feb 1;103(2):740-747Polycystic ovary syndrome (PCOS) is characterized by oligo-amenorrhoea, clinical and/or biochemical hyperandrogenism, polycystic ovaries, infertility and, commonly, insulin resistance, hyperinsulinaemia, morbid obesity and type 2 diabetes. The insulin-sensitizing drug metformin ameliorates the endocrinopathy of PCOS by red...

To read the full abstract: Int Health 2018; 10(2):100-107This article addresses the important issue of acceptance of the congenital screening for congenital hypothyroidism (CH) by the population in general and the families in particular. While it is usually obvious for the health professional that screening for CH is beneficial to the potentially affected neonate, culture, level of education, ...

Proc Natl Acad Sci USA 2021 Feb 23;118(8):e2019152118. Abstract: https://pubmed.ncbi.nlm.nih.gov/33597301/In brief: Sox9 is the key transcription factor and master regulator of chondrocyte differentiation during skeletal development. This paper demonstrates that SOX9 also has a key role during postnatal life to maintain open growth plates and healthy articular cartilage by preventi...

N Engl J Med. 2021 Jul 8;385(2):189-191.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34233101/In brief: This study retrospectively analysed a cohort of patients with autosomal dominant hypocalcemia type 1 and recurrent hypocalcemic seizures treated with continuous subcutaneous PTH (1-34) infusions using insulin pumps. Compared to conventional therapy, PTH (1-34)...

J Clin Endocrinol Metab. 2021; 106(11): e4666-e4679. PMID: 34146101https://pubmed.ncbi.nlm.nih.gov/34146101/Brief Summary: These clinical trials evaluated the safety and efficacy of tildacerfront, a CRF1R antagonist, in suppressing adrenal androgen secretion in adult patients with classical Congenital adrenal hyperplasia (CAH) during a treatment period of 12 weeks.<p class="abs...

To read the full abstract: Proc Natl Acad Sci U S A. 2019;116:21401–21408.This prospective diagnostic study used desorption electrospray ionization mass spectrometry (DESI-MS) to classify thyroid nodules by their metabolic signature, and more precisely their lipid profile. DESI-MS is a technique using charged aerosols of microdroplets which are sprayed onto a surface (e.g. tissue) to desorb and ionize molecules which are then analyzed by MS...

To read the full abstract: Proc Natl Acad Sci U S A. 2019; 116(44): 22294-22299. PMID: 31611378.Androgen biosynthesis in the human fetus proceeds through the adrenal sex steroid precursor dehydroepiandrosterone (DHEA), which is converted to testosterone in the gonads, followed by further activation to 5α-dihydrotestosterone (DHT) in genital skin, thereby facilitating male external genit...

To read the full abstract: Lancet Diabetes Endocrinol. 2019; 7(11): 855-865. PMID: 31542384A.Endogenous Cushing’s syndrome is a rare, serious endocrine condition characterized by chronic overproduction of cortisol (1). It is most often caused by a pituitary adenoma (i.e. Cushing’s disease), while other causes include ectopic ACTH secretion or primary adrenal neopl...

To read the full abstract: Science. 2018;362(6411).Here, developmental regulation of deiodinases DIO2 and DIO3 were identified as main regulators of thyroid hormone dependent sequential cone subtype specification in human retinal organoids. Either complete loss of thyroid hormone signaling or non-physiologically high thyroid hormone levels completely suppressed either medium and long wav...

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(11): 4043–4088.Since the publication of the 2010 Endocrine Society clinical practice guideline for Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, there have been several advances in the diagnosis and management of the condition. Neonatal diagnosis methods have been refined to use gestational age in...