Literature DB >> 16962294

[Acute adrenal insufficiency in the newborn].

J-M Limal1, N Bouhours-Nouet, S Rouleau, F Gatelais, R Coutant.   

Abstract

Neonatal acute adrenal insufficiency is a rare condition. Congenital adrenal hyperplasia with 21-hydroxylase defect appears to be the most frequent cause, but the neonatal screening has improved its potential severe outcome. The other causes and the various clinical presentations have been exposed, with a special reference to the salt-wasting syndrome. Among them, the severity of X-linked adrenal hypoplasia congenita (AHC) deserves special attention. Two other causes of adrenal hypoplasia have been recently discovered, i.e. a mutation of the SF-1 gene and the syndrome IMAGe. Adrenal insufficiency secondary to ACTH deficiency is often unrecognised despite the risk of severe seizures and hypoglycaemia with brain damage. Finally, the hormonal diagnostic testing and the main therapeutic approach by corticosteroids have been indicated. The aim of this work is to focus the attention of paediatricians who examine a newborn because the risk of delayed diagnosis and fatal outcome may be limited if the clinical symptoms are soon recognized.

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Year:  2006        PMID: 16962294     DOI: 10.1016/j.arcped.2006.07.016

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN: 0929-693X            Impact factor:   1.180


  3 in total

1.  X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.

Authors:  Aimé Lumaka; Gerrye Mubungu; Celestin Nsibu; Bruno-Paul Tady; Tshilobo Lukusa; Koenraad Devriendt
Journal:  Eur J Pediatr       Date:  2011-07-08       Impact factor: 3.183

2.  Hypoglycaemic seizure and neonatal acute adrenal insufficiency after maternal exposure to prednisone during pregnancy: a case report.

Authors:  Pierre-Jean Saulnier; Xavier Piguel; Marie Christine Perault-Pochat; Cassandra Csizmadia-Bremaud; Jean-Pascal Saulnier
Journal:  Eur J Pediatr       Date:  2009-11-10       Impact factor: 3.183

3.  Entire DAX1 gene deletion in an Indian boy with adrenal hypoplasia congenita.

Authors:  Vaman V Khadilkar; Hari R Mangtani; Rahul R Jahagirdar; Kavita A Khatod; Nikhil D Phadke; Pillay S Deepa; Anuradha V Khadilkar
Journal:  Indian J Pediatr       Date:  2012-12-22       Impact factor: 1.967

  3 in total

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