[Adrenal hypoplasia congenita: four new cases in children].

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.

• Authors: P Pélissier, E Merlin, F Prieur, M David, G Malpuech, M G Forest, Y Morel, M Nicolino, O Richard, J-L Stéphan
• Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie (Arch Pediatr) Vol. 12 Issue 4 Pg. 380-4 (Apr 2005) ISSN: 0929-693X [Print] France
• Vernacular Title: Hypoplasie congénitale des surrénales : à propos de quatre observations.
• PMID: 15808425 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Adolescent
• Adrenal Glands (abnormalities)
• Adult
• Child, Preschool
• Congenital Abnormalities (genetics)
• Humans
• Infant, Newborn
• Male
• Pedigree