[Adrenocorticotropic hormone (ACTH) insensitivity syndrome: about a case]. / Syndrome de résistance à l'Adrénocorticotrophine Hormone (ACTH): à propos d'un cas.
Pan Afr Med J
; 30: 244, 2018.
Article
em Fr
| MEDLINE
| ID: mdl-30627305
ABSTRACT
Adrenocorticotropic hormone (ACTH) insensitivity syndrome is one of the rare causes of adrenal insufficiency in children. All described inherited ACTH insensitivity forms are of autosomal recessive origin. In our resource-poor Countries, many of these rare diseases are ignored or not diagnosed due to inadequate technical equipments. We report the case of a 4-month old infant hospitalized for refractory hypoglycaemias. Despite the patient had generalized and severe melanodermia, digestive disorders and ion channel disorders the diagnosis of cortisol deficiency was only diagnosed retrospectively during respiratory arrest with favorable outcome under hydrocortisone therapy. This study aims to highlight the clinical, laboratory and therapeutic features of peripheral cortisol deficiency, without enzymatic blocks, including this adrenocorticotropic hormone (ACTH) insensitivity syndrome.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hidrocortisona
/
Insuficiência Adrenal
/
Hormônio Adrenocorticotrópico
Limite:
Female
/
Humans
/
Infant
Idioma:
Fr
Ano de publicação:
2018
Tipo de documento:
Article