A 37-year-old woman was admitted for chief complaints about primary amenorrhea and multiple bone pains. She was raised phenotypically female but her chromosomal study was no-rmal male karyotype(46 XY). On pelvic examination, she showed relatively normal female ex-ternal genitalia except short blind-ending vagina. There were also no uterus and tubes in operation field. Even though rare disorder, she was diagnosed male pseudohermaphroditism due to 17-beta -hydroxysteroid dehydrogenase deficiency. This disorder is the most common enzyme defect in biosynthesis of testosterone and involves the last step. The serum level of sex steroid: test osterone, estradiol were decreased and FSH, LH were increased. Androstenedione was increased and we could obtain that Androstenedione / Testosterone ratio was increased. Because of 17-beta-HSD deficiency, estrogen was not converted to estradiol, and so estradiol was markedly decreased. Same as above, we experienced a case of male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase deficiency with multiple osteoporosis. So we report this case with a brief review of literatures.
46, XY Disorders of Sex Development ; Adult ; Amenorrhea ; Androstenedione ; Estradiol ; Estrogens ; Female ; Genitalia ; Gynecological Examination ; Humans ; Male ; Osteoporosis* ; Oxidoreductases* ; Testosterone ; Uterus ; Vagina

PURPOSE: The purpose of this study is to determine the maximum tolerated dose (MTD), safety, pharmacokinetics, and recommended phase II dose of an oral drug composed of paclitaxel and HM30181A, which is an inhibitor of P-glycoprotein, in patients with advanced cancers. MATERIALS AND METHODS: Patients with advanced solid tumors received standard therapy were given the study drug at escalating doses, using a 3+3 design. The study drug was orally administered on days 1, 8, and 15, with a 28-day cycle of administration. The dose of paclitaxel was escalated from 60 to 420 mg/m2, and the dose of HM30181A was escalated from 30-210 mg/m2. RESULTS: A total of twenty-four patients were enrolled. Only one patient experienced a dose-limiting toxicity-a grade 3 neutropenia that persisted for more than 2 weeks, at 240 mg/m2 of paclitaxel. MTD was not reached. The maximum plasma concentration was obtained at a dose level of 300 mg/m2 and the area under the curve of plasma concentration-time from 0 to the most recent plasma concentration measurement of paclitaxel was reached at a dose level of 420 mg/m2. The absorption of paclitaxel tends to be limited at doses that exceed 300 mg/m2. The effective plasma concentration of paclitaxel was achieved at a dose of 120 mg/m2. Responses of 23 patients were evaluated; 8 (34.8%) had stable disease and 15 (65.2%) had progressive disease. CONCLUSION: The study drug appears to be well tolerated, and the effective plasma concentration of paclitaxel was achieved. The recommended phase II dose for oral paclitaxel is 300 mg/m2.
Absorption ; Humans ; Maximum Tolerated Dose ; Neutropenia ; P-Glycoprotein* ; Paclitaxel* ; Pharmacokinetics ; Plasma