Molecular analysis of androgen resistance syndromes in Egyptian patients

• Published in: Disease markers Vol. 13; no. 2; pp. 99 - 105
• Main Authors: ESSAWI, M, GAD, Y. Z, EL-ROUBY, O, TEMTAMY, S. A, SABOUR, Y. A, EL-AWADY, M. K
• Format: Journal Article
• Language: English
• Published: Amsterdam IOS Press 01.04.1997; Oxford; Berlin
• Subjects: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - deficiency; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - genetics; Biological and medical sciences; Disorders of Sex Development - diagnosis; Disorders of Sex Development - etiology; Disorders of Sex Development - genetics; Egypt; Electrophoresis, Polyacrylamide Gel; Exons; Genetic Testing; Gynecology. Andrology. Obstetrics; Humans; Male; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance; Medical sciences; Point Mutation; Polymorphism, Single-Stranded Conformational; Receptors, Androgen - deficiency; Receptors, Androgen - genetics; Sequence Analysis, DNA; Sequence Deletion; Syndrome; Tropical medicine; Africa; Egypt; Endocrinopathy; Human; Androgen; Congenital disease; Male pseudohermaphroditism; Case study; Polymerase chain reaction; Resistance; Malformation; Deletion; Mutation; Molecular biology; Sex steroid hormone; Male genital diseases

Androgen resistance syndromes [i.e. 5 alpha-reductase deficiency (5 alpha RD) and androgen receptor (AR) defects] are frequently reported among Egyptian intersex patients. This study examined AR and 5 alpha-reductase 2 (5 alpha R2) gene mutations among a sample of such cases as a first step towards...