Variable presentation of X-linked adrenal hypoplasia congenita

Journal of Pediatric Endocrinology and Metabolism

Volumn 14, Issue 8, 2001, Pages 1093-1096

  Wiltshire, E ^a   Couper, J ^a   Rodda, C ^a   Jameson, L ^a   Achermann, J C ^a  

^a UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Adrenal hypoplasia congenita; Adrenal insufficiency; DAX1; Mineralocorticoid

Indexed keywords

FLUDROCORTISONE; GLUCOCORTICOID; HYDROCORTISONE; MINERALOCORTICOID;

ADRENAL CORTEX INSUFFICIENCY; ADRENAL GLAND; ADRENAL GLAND MALFORMATION; AGE; ARTICLE; BIOCHEMISTRY; CASE REPORT; CHROMOSOME XP; CLINICAL FEATURE; ECHOGRAPHY; FAMILY; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HORMONE SUBSTITUTION; HUMAN; MALE; NEWBORN; ORGAN SIZE; PRESCHOOL CHILD; STEROID THERAPY; X CHROMOSOME LINKAGE; X LINKED CONGENITAL ADRENAL HYPOPLASIA;

EID: 0034789172     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/jpem-2001-0804     Document Type: Article

References (8)

1. Familial congenital adrenal hypoplasia
2. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
3. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita
4. Truncation at the C-terminus of the DAX1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita
5. Congenital adrenal hypoplasia: Clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene
6. Dax-1 as one of the target genes of Ad4BP/SF-1
7. Adrenal hypoplasia congenita with hypogonadotrphic hypogonadism: Evidence that DAX 1 mutations lead to combined hypothalamic and pituitary defects in gonadotrophin production
8. X-linked adrenal hypoplasia congenita: A mutation in DAX 1 expands the phenotypic spectrum in females and males