Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.
Rev Endocr Metab Disord
; 24(2): 345-363, 2023 04.
Article
em En
| MEDLINE
| ID: mdl-36763264
ABSTRACT
Adrenal insufficiency (AI) is a severe endocrine disorder characterized by insufficient glucocorticoid (GC) and/or mineralocorticoid (MC) secretion by the adrenal glands, due to impaired adrenal function (primary adrenal insufficiency, PAI) or to insufficient adrenal stimulation by pituitary ACTH (secondary adrenal insufficiency, SAI) or tertiary adrenal insufficiency due to hypothalamic dysfunction. In this review, we describe rare genetic causes of PAI with isolated GC or combined GC and MC deficiencies and we also describe rare syndromes of isolated MC deficiency. In children, the most frequent cause of PAI is congenital adrenal hyperplasia (CAH), a group of adrenal disorders related to steroidogenic enzyme deficiencies, which will not be included in this review. Less frequently, several rare diseases can cause PAI, either affecting exclusively the adrenal glands or with systemic involvement. The diagnosis of these diseases is often challenging, due to the heterogeneity of their clinical presentation and to their rarity. Therefore, the current review aims to provide an overview on these rare genetic forms of paediatric PAI, offering a review of genetic and clinical features and a summary of diagnostic and therapeutic approaches, promoting awareness among practitioners, and favoring early diagnosis and optimal clinical management in suspect cases.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Insuficiência Adrenal
/
Hiperplasia Suprarrenal Congênita
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Child
/
Humans
Idioma:
En
Revista:
Rev Endocr Metab Disord
Assunto da revista:
ENDOCRINOLOGIA
/
METABOLISMO
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Itália