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Article

A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children.

Hormones (Athens, Greece) - 1 Jan 2000

Minari Roberta, Vottero Alessandra, Tassi Francesco, Viani Isabella, Neri Tauro Maria, Street Maria Elisabeth, Ghizzoni Lucia, Bernasconi Sergio, Martorana Davide

Abstract excerpt

OBJECTIVE: Congenital adrenal hypoplasia (CAH) is a rare disorder that can be inherited in an X-linked or autosomal recessive pattern. CAH is frequently associated with hypogonadotropic hypogonadism (HHG) with absent or arrested puberty and impaired fertility caused by abnormalities in spermatogenesis. It is estimated that more than 50% of boys with idiopathic adrenal insufficiency have mutations in the NR0B1...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DAX-1 Orphan Nuclear Receptor

Share to DNA Mutational Analysis

Share to Heterozygote

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Source

Identifiers

PMID: 25402384
DOI: 10.14310/horm.2002.1490

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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