ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This brief and concise Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP), describes a systematic review and provides recommendations for the use of genetic screening in Cushing’s syndrome (CS).Comment: The etiology of CS may involve both germline genetic alterations (detectable in leukocyte DNA) and somatic mutations (present only in tumor DNA). Two...

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...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgaa002. PMID: 31912137.Carney complex (CNC) is a rare multiple endocrine and nonendocrine neoplasia syndrome, described in 1985 by J. Aidan Carney (1). The diagnostic criteria include dermatologic manifestations (spotty skin pigmentation with typical periorificial distribution [known as lentigines], cutaneou...

Brief Summary: This study investigated the synthesis pathway of pregnenolone (PREG) in the central nervous system. It identified the P450 enzyme CYP1B1 to be responsible for the production of PREG in human glial cells.Comment: Steroids have important functions in the central and peripheral nervous systems, including modulation of behavior, pain, stress and inflammation. Steroids in the brain can be produced de novo, as well as transported from p...

Brief summary: This retrospective study compared the efficacy and tolerability profiles of leuprolide and triptorelin in patients with central precocious puberty and did not find any significant difference between the two drugs.Treatment with GnRH analogues represents the standard of care for central precocious puberty (CPP) in order to preserve adult height potential1. Leuprolide and Triptorelin are the most prescribed drugs (1,2). They are g...

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...

Brief summary: This prospective observational cohort study determined leukocyte telomere length (LTL) in 76 patients with genetically confirmed CAH (83% classic CAH). LTL was shorter in patients with classic vs nonclassic CAH, in overtreated than in optimally treated patients, and patients receiving prednisolone compared with hydrocortisone.Telomeres are tandem repeats of a noncoding hexameric nucleotide sequence (5′-TTAGGG-3′) located at the...

To read the full abstract: Obesity 2018;26(4):776-781Here, Twig et al. shed light on an important, but not well investigated facet of the complex, multi-organ system chronic disease simply termed ‘obesity’. Using the large statistical power of this impressive, nation-wide database, the authors demonstrate high hazard ratios for obesity-related kidney mortality in a relatively young cohort...

Brief Summary: This study uses a combination of proteomics and murine transgenics to identify the role of Kisspeptin signalling in astrocytes and how it impacts the reproductive axis.Kisspeptin, a neuropeptide, is essential for regulating the hypothalamic-pituitary-gonadal (HPG) axis, which controls reproduction by acting on GnRH neurons. While most studies have focused on GnRH neurons as the primary mediators of kisspeptin signalling and function, this ...

To read the full abstract: Crit Care Med. 2017; 45(12): 2078-2088This guideline replaces/updates the 2008 recommendations regarding the diagnosis and management of critical illness-related corticosteroid insufficiency (CIRCI) in adult and pediatric patients. In CIRCI, inadequate glucocorticoid-mediated anti-inflammatory activity is observed in relation to the severity of the critical illne...