[Adrenal hypoplasia congenita: four new cases in children]. / Hypoplasie congénitale des surrénales : à propos de quatre observations.
Arch Pediatr
; 12(4): 380-4, 2005 Apr.
Article
em Fr
| MEDLINE
| ID: mdl-15808425
ABSTRACT
Adrenal hypoplasia congenita (AHC) is an extremely uncommon disease of early onset. This condition can be lethal in the absence of adapted treatment. Some of these diseases are related to changes in the gene DAX1 that encodes a member of the superfamily of hormone nuclear receptors. It is a transcriptional repressor that is central in the morphogenesis of the adrenals and the gonadic differentiation. Here we report on four cases of X- linked AHC. In the first two familial cases, mutations were identified and mothers were heterozygotes. Abnormally low levels of estriol were evidenced during the pregnancy leading to an early diagnosis and adapted care of the affected male neonates. These children are doing well with a 21-and 20 months follow-up with hormone replacement at the present time. The two last cases corresponded to a contiguous gene syndrome associating AHC to glycerol-kinase deficiency that was revealed respectively at six days and seven years of age by acute adrenal insufficiency.
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Base de dados:
MEDLINE
Assunto principal:
Glândulas Suprarrenais
Tipo de estudo:
Prognostic_studies
/
Screening_studies
Limite:
Adolescent
/
Adult
/
Child, preschool
/
Humans
/
Male
/
Newborn
Idioma:
Fr
Revista:
Arch Pediatr
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
França