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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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ey0017.6-9 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

JJ Hughes , E Alkhunaizi , P Kruszka , LC Pyle , DK Grange , SI Berger , KK Payne , D Masser-Frye , T Hu , MR Christie , NJ Clegg , JL Everson , AF Martinez , LE Walsh , E Bedoukian , MC Jones , CJ Harris , KM Riedhammer , D Choukair , PY Fechner , MM Rutter , SB Hufnagel , M Roifman , GB Kletter , E Delot , E Vilain , RJ Lipinski , CM Vezina , M Muenke , D Chitayat

To read the full abstract: Am J Hum Genet. 2020, Jan 2; 106: 121-8. doi: https://www.cell.com/ajhg/pdf/S0002-9297(19)30468-9.pdfProtein phosphatase 1, regulatory subunit 12a (PPP1R12A) is an important developmental factor involved in cell migration, adhesion, and morphogenesis. It is involved in the formation of myosin phosphatase and is regulated by phosphorylation.<p cla...

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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

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

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