Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.

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第一作者： Valeria,Hasenmajer

第一单位： Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.

作者： Valeria,Hasenmajer ^[1] ; Rosario,Ferrigno ^[2] ; Marianna,Minnetti ^[1] ; Bianca,Pellegrini ^[3] ; Andrea M,Isidori ^[1] ; Andrea,Lenzi ^[1] ; Mariacarolina,Salerno ^[3] ; Marco,Cappa ^[4] ; Li,Chan ^[5] ; Maria Cristina,De Martino ^[3] ; Martin O,Savage ^[6]

作者单位： Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy. ^[1] UOSD Auxology and Endocrinology, Department of Pediatric, AORN Santobono-Pausilipon, Naples, Italy. ^[2] Dipartimento Di Medicina Clinica E Chirurgia, Federico II University, Naples, Italy. ^[3] Endocrinology Unit, Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy. ^[4] Endocrinology Centre, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK. ^[5] Endocrinology Centre, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK. m.o.savage@qmul.ac.uk. ^[6]

关键词 Addison Adrenal insufficiency Adrenoleukodystrophy Aldosteron Aldosterone Synthase Allgrove syndrome Cortisol Familial glucocorticoid deficiency Intrauterine growth retardation syndromes Pseudohypoaldosteronism Steroidogenesis Triple A syndrome

主题词儿童(Child);人类(Humans);肾上腺增生, 先天性(Adrenal Hyperplasia, Congenital);肾上腺功能减退(Adrenal Insufficiency);肾上腺(Adrenal Glands)

DOI 10.1007/s11154-023-09784-7

PMID 36763264

发布时间 2023-03-27

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