Article

X-Linked Adrenal Hypoplasia Congenita: A Mutation in DAX1Expands the Phenotypic Spectrum in Males and Females

1999-12-01

Abstract excerpt

X-linked adrenal hypoplasia congenita (AHC) is a disorder associated with primary adrenal insufficiency and hypogonadotropic hypogonadism (HH). The gene responsible for X-linked AHC, DAX1, encodes a member of the nuclear hormone receptor superfamily. We studied an extended kindred with AHC and HH in which two males (the proband and his nephew) were affected with a nucleotide deletion (501delA). The proband's mothe...

Topics

Open a Topic to create a Post that cites this publication.

Adrenal Hormones and Disorders

Identifiers and source

Literature Corpus work: faa8713f-e180-57ae-b115-cf42b57b5d9b
DOI: 10.1210/jc.84.12.4501

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

X-Linked Adrenal Hypoplasia Congenita: A Mutation in DAX1Expands the Phenotypic Spectrum in Males and FemalesDOI 10.1210/jc.84.12.4501Read

X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.Semantic proximity Read

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.Semantic proximity Read

Hypogonadotropic hypogonadism in subjects with DAX1 mutations.Semantic proximity Read

DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patientsSemantic proximity Read

Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.Semantic proximity Read

Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.Semantic proximity Read

Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene.Semantic proximity Read

Congenital adrenal hypoplasia and DAX-1 gene mutations.Semantic proximity Read

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.Semantic proximity Read

Variable presentation of X-linked adrenal hypoplasia congenita.Semantic proximity Read

The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily.Semantic proximity Read

Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.Semantic proximity Read