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Article

A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family.

Fertility and sterility - 1 May 2008

Decaestecker Karel, Philibert Pascal, De Baere Elfride, Hoebeke Piet, Kaufman Jean-Marc, Sultan Charles, T'Sjoen Guy

Abstract excerpt

OBJECTIVE: To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic testing and to offer carriership testing in female relatives should a disease-causing mutation be found. DESIGN: Case report. SETTING: University hospital. PATIENT(S): Caucasian family in which two sisters were clinically diagnosed with CAIS during childhood. INTERVENTION(S): Molecular genetic...

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PMID: 17714709
DOI: 10.1016/j.fertnstert.2007.04.057

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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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