title: Variable presentation of X-linked adrenal hypoplasia congenita.
abstract: We present a family with X-linked adrenal hypoplasia congenita (AHC) due to a truncation mutation in the DAX1 gene. The three patient reports demonstrate variable clinical and biochemical features at presentation. They presented with adrenal crises at 3 years, 4 weeks, and 3 weeks. Mineralocorticoid deficiency preceded glucocorticoid deficiency in patient 3 and an early ultrasound indicated normal sized adrenal tissue. Genetic analysis showed that potential female carriers were unaffected.
authors.affiliation: Department of Endocrinology, Women's and Children's Hospital, University of Adelaide, South Australia, Australia.
authors.forename: E
authors.initials: E
authors.lastname: Wiltshire
authors.forename: J
authors.initials: J
authors.lastname: Couper
authors.forename: C
authors.initials: C
authors.lastname: Rodda
authors.forename: J L
authors.initials: JL
authors.lastname: Jameson
authors.forename: J C
authors.initials: JC
authors.lastname: Achermann
mesh_terms: D000311:Adrenal Glands / Q000000981:diagnostic imaging; D000309:Adrenal Insufficiency / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D002675:Child, Preschool; D057137:DAX-1 Orphan Nuclear Receptor; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D008040:Genetic Linkage; D005938:Glucocorticoids / Q000172:deficiency; D006579:Heterozygote; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008901:Mineralocorticoids / Q000172:deficiency; D009154:Mutation; D010375:Pedigree; D018168:Receptors, Retinoic Acid / Q000235:genetics; D012083:Renin / Q000097:blood; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics; D014463:Ultrasonography; D014960:X Chromosome
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; D005938:Glucocorticoids; D008901:Mineralocorticoids; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D014157:Transcription Factors; D000324:Adrenocorticotropic Hormone; D012083:Renin; D006854:Hydrocortisone