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ey0019.8-8 | Clinical Trials – New Treatments | ESPEYB19

8.8. Crinecerfont lowers elevated hormone markers in adults with 21-hydroxylase deficiency congenital adrenal hyperplasia

AR Auchus , K Sarafoglou , PY Fechner , MG Vogiatzi , EA Imel , SM Davis , N Giri , J Sturgeon , E Roberts , JL Chan , RH Farber

J Clin Endocrinol Metab. 2022; 107(3): 801-812. PMID: 34653252 https://pubmed.ncbi.nlm.nih.gov/34653252/Brief Summary: This clinical trial evaluated the safety and efficacy of crinecerfont, a CRF1R antagonist, in suppressing adrenal androgen secretion in adult patients with classic congenital adrenal hyperplasia (CAH) during a treatment period of 14 days.Class...

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ey0020.13-2 | Section | ESPEYB20

13.2. Somatic mutation rates scale with lifespan across mammals

A Cagan , A Baez-Ortega , N Brzozowska , F Abascal , THH Coorens , MA Sanders , ARJ Lawson , LMR Harvey , S Bhosle , D Jones , RE Alcantara , TM Butler , Y Hooks , K Roberts , E Anderson , S Lunn , E Flach , S Spiro , I Januszczak , E Wrigglesworth , H Jenkins , T Dallas , N Masters , MW Perkins , R Deaville , M Druce , R Bogeska , MD Milsom , B Neumann , F Gorman , F Constantino-Casas , L Peachey , D Bochynska , ESJ Smith , M Gerstung , PJ Campbell , EP Murchison , MR Stratton , I Martincorena

In Brief: To document variations in rates of somatic mutations, the authors performed whole-genome sequencing of DNA from cells of intestinal crypts across 16 diverse mammalian species, spanning huge 40 000-fold variations in body mass and 30-fold variations in lifespan. The somatic mutation rates per year varied greatly across species and showed a much stronger inverse relationship with species lifespan than with species body mass.Comment: Petos p...

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ey0016.14-14 | (1) | ESPEYB16

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

J Lord , DJ McMullan , RY Eberhardt , G Rinck , SJ Hamilton , E Quinlan-Jones , E Prigmore , R Keelagher , SK Best , GK Carey , R Mellis , S Robart , IR Berry , KE Chandler , D Cilliers , L Cresswell , SL Edwards , C Gardiner , A Henderson , ST Holden , T Homfray , T Lester , RA Lewis , R Newbury-Ecob , K Prescott , OW Quarrell , SC Ramsden , E Roberts , D Tapon , MJ Tooley , PC Vasudevan , AP Weber , DG Wellesley , P Westwood , H White , M Parker , D Williams , L Jenkins , RH Scott , MD Kilby , LS Chitty , ME Hurles , ER Maher

To read the full abstract: Lancet 2019;393:747757. .This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, a diagnostic genetic mutation ...

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ESPE Yearbook of Paediatric Endocrinology

8.8. Crinecerfont lowers elevated hormone markers in adults with 21-hydroxylase deficiency congenital adrenal hyperplasia

13.2. Somatic mutation rates scale with lifespan across mammals

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

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