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Article

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

The Journal of clinical endocrinology and metabolism - 1 Oct 1999

Caron P, Imbeaud S, Bennet A, Plantavid M, Camerino G, Rochiccioli P

Abstract excerpt

We have studied a 20-yr-old male patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism (HH) due to a C to A transversion at nucleotide 825 in the DAX-1 gene, resulting in a stop codon at position 197. The same mutation was detected in his affected first cousin (adrenal hypoplasia congenita and HH) and in a heterozygous state in their carrier mothers. The patient had had acute adrenal...

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Share to Chorionic Gonadotropin
Share to DAX-1 Orphan Nuclear Receptor

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genitalia, Male

Share to Gonadotropin-Releasing Hormone

Share to Hypogonadism

Share to Hypothalamo-Hypophyseal System

Share to Luteinizing Hormone

Share to Receptors, Retinoic Acid

Source

Identifiers

PMID: 10522996
DOI: 10.1210/jcem.84.10.6030

Genes

FAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene.PMID 10522996Read ↗

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