A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
Horm Res
; 68(1): 32-7, 2007.
Article
em En
| MEDLINE
| ID: mdl-17308433
ABSTRACT
A male presented at age 2.2 years with a 6-week history of intermittent vomiting and hyperpigmentation. Investigations showed salt wasting with hyperkalaemia, a grossly impaired cortisol response to ACTH stimulation, elevated renin and ACTH. Family history revealed that two maternal uncles had died soon after birth. A third uncle failed to thrive during infancy but improved with a course of cortisone, then being untreated until further investigation revealed adrenal insufficiency. A fourth uncle died aged 10 days, with urinary salt loss and hypoplastic adrenal glands at postmortem. Molecular studies on the proband, his mother, maternal grandmother, and surviving uncle showed a novel C to G substitution at nucleotide position 794 (missense mutation T265R) in the DAX1 (NR0B1) gene. The proband has responded well to steroid replacement but has proved sensitive to 9alpha-fludrocortisone treatment, developing hypertension on a dose of 133 microg/m(2)/day. At 8.8 years he was noted to have testicular volumes of 4 ml, despite no other evidence of secondary sexual development and prepubertal gonadotrophin levels. Novel features of this family include a novel DAX1 mutation, marked variability in age of presentation, hypertension on 'standard' doses of 9alpha-fludrocortisone and mild testicular enlargement.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
/
Testículo
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Receptores do Ácido Retinoico
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Insuficiência Adrenal
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Glândulas Suprarrenais
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Doenças Genéticas Ligadas ao Cromossomo X
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Proteínas de Ligação a DNA
Limite:
Animals
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Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Horm Res
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Reino Unido