Article
P450c17 deficiency: clinical and molecular characterization of six patients.
The Journal of clinical endocrinology and metabolism - 1 Mar 2007
Rosa S, Duff C, Meyer M, Lang-Muritano M, Balercia G, Boscaro M, Topaloglu A Kemal, Mioni R, Fallo F, Zuliani L, Mantero F, Schoenle E J, Biason-Lauber A
Abstract excerpt
CONTEXT: The characteristics of P450c17 deficiency include 46,XY disorder of sex development, hypertension, hypokalemia, and lack of pubertal development. OBJECTIVE: To better understand this rare enzymatic deficiency, we analyzed the CYP17A1 gene in six affected patients. DESIGN AND PATIENTS: We examined six patients, five 46,XY, and one 46,XX (age 9-29 yr) with complete lack of masculinization (female infantile...
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