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ey0019.5-4 | Advances in clinical practice | ESPEYB19

5.4. PTH infusion for seizures in autosomal dominant hypocalcemia type 1

A Sastre , K Valentino , FM Hannan , KE Lines , AK Gluck , M Stevenson , M Ryalls , RJ Gorrigan , D Pullen , J Buck , S Sankaranarayanan , J Allgrove , RV Thakker , EF Gevers

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)...

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ey0015.8-14 | New Hope | ESPEYB15

8.14 Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

G Ruiz-Babot , M Balyura , I Hadjidemetriou , SJ Ajodha , DR Taylor , L Ghataore , NF Taylor , U Schubert , CG Ziegler , HL Storr , MR Druce , EF Gevers , WM Drake , U Srirangalingam , GS Conway , PJ King , LA Metherell , SR Bornstein , L Guasti

To read the full abstract: Cell Rep. 2018; 22(5): 1236-1249Primary or secondary adrenal insufficiency (AI) results from adrenal failure or impairment of the hypothalamic-pituitary axis, respectively. The most frequent cause of primary AI is autosomal recessive congenital adrenal hyperplasia (CAH). Patients with AI need life-long treatment with exogenous steroids, which can be challenging, ...

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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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ey0018.3-13 | Clinical studies | ESPEYB18

3.13. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

S Groeneweg , FS van Geest , A Abacı , A Alcantud , GP Ambegaonkar , CM Armour , P Bakhtiani , D Barca , ES Bertini , IM van Beynum , N Brunetti-Pierri , M Bugiani , M Cappa , G Cappuccio , B Castellotti , C Castiglioni , K Chatterjee , IFM de Coo , R Coutant , D Craiu , P Crock , C DeGoede , K Demir , A Dica , P Dimitri , A Dolcetta-Capuzzo , MHG Dremmen , R Dubey , A Enderli , J Fairchild , J Gallichan , B George , EF Gevers , A Hackenberg , Z Halasz , B Heinrich , T Huynh , A Kłosowska , MS van der Knaap , MM van der Knoop , D Konrad , DA Koolen , H Krude , A Lawson-Yuen , J Lebl , M Linder-Lucht , CF Lorea , CM Lourenco , RJ Lunsing , G Lyons , J Malikova , EE Mancilla , A McGowan , V Mericq , FM Lora , C Moran , KE Muller , I Oliver-Petit , L Paone , PG Paul , M Polak , F Porta , FO Poswar , C Reinauer , K Rozenkova , TS Menevse , P Simm , A Simon , Y Singh , M Spada , J van der Spek , MAM Stals , A Stoupa , GM Subramanian , D Tonduti , S Turan , CA den Uil , J Vanderniet , A van der Walt , JL Wemeau , J Wierzba , MY de Wit , NI Wolf , M Wurm , F Zibordi , A Zung , N Zwaveling-Soonawala , WE Visser

Lancet Diabetes Endocrinol. 2020;8:594605. doi: 10.1016/S2213-8587(20)30153-4.Groenenweg et al. present the so far largest retrospective multicentre cohort study on 151 patients with 73 different MCT8 (SLC16A2) mutations to compare and describe in detail the phenotypic spectrum and the disease course of MCT8 deficiency. The careful description of presenting cl...

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ESPE Yearbook of Paediatric Endocrinology

5.4. PTH infusion for seizures in autosomal dominant hypocalcemia type 1

8.14 Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

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

3.13. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

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