Genotyping of the type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in women with hirsutism and elevated ACTH-stimulated Δ5-steroids

Objective: Genotyping of the HSD3B2 gene in females with hirsutism and elevated ACTH-stimulated Delta(5)-steroids. Design: Fourteen adult females whose ACTH-stimulated 17-hydroxypregnenolone (17OH-PREG) Levels were elevated (greater than or equal to 2.3 SD). Setting: University hospital outpatient clinic and molecular endocrinology laboratory. Patient(s): Thirteen women with hirsutism and one with virilization. Intervention(s): ACTH-stimulation test and genotyping of the HSD3B2 gene. Main Outcome Measure(s): The four exons and exon-intron boundaries of the HSD3B2 gene were amplified by the use of polymerase chain reaction and were screened for mutations by denaturing gradient gel electrophoresis. The fragments that were found to have abnormal migration on denaturing gradient gel electrophoresis were directly sequenced. Result(s): No mutations were found in 13 patients who had mild to moderate elevations in ACTH-stimulated 17OH-PREG levels, and the T259M mutation was identified in the woman with virilization and extremely high 17OH-PREG levels. Conclusion(s): Mutations in the HSD3B2 gene were not found in women with hirsutism and mild-to-moderate elevations in ACTH-stimulated 17OH-PREG levels. (Fertil Steril(R) 2000,74:553-7. (C) 2000 by American Society for Reproductive Medicine.).