Abstract Search

ey0018.1-7 | Development/Ontogeny | ESPEYB18

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

A Gualtieri , N Kyprianou , LC Gregory , ML Vignola , JG Nicholson , R Tan , SI Inoue , V Scagliotti , P Casado , J Blackburn , F Abollo-Jimenez , E Marinelli , REJ Besser , W Hogler , I Karen Temple , JH Davies , A Gagunashvili , ICAF Robinson , SA Camper , SW Davis , PR Cutillas , EF Gevers , Y Aoki , MT Dattani , C Gaston-Massuet

Nat Commun. 2021 Apr 1;12(1):2028. doi: 10.1038/s41467-021-21712-4. PMID: 33795686.The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome with features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency of variable degree. All were identified to carry a gain−of−function mutation in BRAF.RASopathies encompass Noonan ...

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ey0020.6-7 | Clinical Trials – New Treatments | ESPEYB20

6.7. [¹¹C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: A prospective, within-patient trial

X Wu , R Senanayake , E Goodchild , WA Bashari , J Salsbury , CP Cabrera , G Argentesi , SM O'Toole , M Matson , B Koo , L Parvanta , N Hilliard , V Kosmoliaptsis , A Marker , DM Berney , W Tan , R Foo , CA Mein , E Wozniak , E Savage , A Sahdev , N Bird , K Laycock , I Boros , S Hader , V Warnes , D Gillett , A Dawnay , E Adeyeye , A Prete , AE Taylor , W Arlt , AN Bhuva , F Aigbirhio , C Manisty , A McIntosh , A McConnachie , JK Cruickshank , H Cheow , M Gurnell , WM Drake , MJ Brown

Brief summary: This study validates dexamethasone-suppressed [11C]metomidate positron emission tomography computed tomography (MTO) scanning as a CYP11B2-selective investigation for lateralizing PA.Primary aldosteronism (PA) is the most common single cause of hypertension, accounting for 514% of all cases and 2025% of treatment-resistant hypertension (1, 2). Traditionally, patients with PA are divided equally into ...

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ESPE Yearbook of Paediatric Endocrinology

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

6.7. [¹¹C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: A prospective, within-patient trial

BiosciAbstracts

ESPE Yearbook of Paediatric Endocrinology

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

6.7. [11C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: A prospective, within-patient trial

BiosciAbstracts

6.7. [¹¹C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: A prospective, within-patient trial