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Abstract #9721 Published in IGR 5-3
A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric stenosis
Gad YZ; Mazen I; Lumbroso S; Temtamy SA; Sultan CClinical Genetics 2003; 63: 59-63
Androgen-insensitivity syndrome (AIS) is a major cause of male pseudohermaphroditism (MPH). Although AIS is usually reported as a monogenic disease resulting from androgen receptor (AR) mutations, on rare occasions it has been observed as part of a multiple congenital anomaly syndrome. The authors report on a patient who was the first newborn girl of an unrelated couple. Shortly after birth, the diagnoses of congenital glaucoma and pyloric stenosis were made. A detailed history of the father's family revealed that nine members presented with glaucoma before 40 years of age. Clinical and ultrasound evaluation showed two inguinal testes, with female external genitalia and no Müllerian derivatives. The patient had a 46,XY karyotype, good testicular response to gonadotrophin stimulation and a remarkably high T: dihydrotestosterone ratio. Sequencing of the five exons of the 5α-reductase type 2 gene (SRD5A2) was normal. Conversely, a de novo point mutation was found in exon 6 of the AR gene, resulting in an F804L substitution, which has never been described previously. To the authors' knowledge, the association of complete AIS, congenital glaucoma and pyloric stenosis has also never been reported previously.
Dr. C. Sultan, INSERM U439, Institute National de la Sante Recherche Medicale, CHU Lapeyronie, 70 rue de Navacalles, 34090 Montpellier, France
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
