In vitro fertilization as a diagnostic and therapeutic tool in a patient with partial 17,20-desmolase deficiency

Objective To present a case with 17,20-desmolase activity deficiency in which in vitro fertilization (IVF) served not only as a therapeutic approach but also as a diagnostic tool for the specificity of the enzymatic deficiency. Design IVF in the patient under study compared with a control group. All women treated with pure follicle-stimulating hormone (FSH). Setting IVF program at the Instituto Valenciano de Infertilidad. Patients, Participants A patient with primary amenorrhea, who was the subject under study, and seven normally cycling control patients undergoing IVF in the same series. Interventions IVF, steroidogenesis in vitro of granulosa-luteal cell obtained at ovum pick-up. Main Outcome Measure(s) Oocyte fertilization and embryo cleavage. Serum and follicular fluid (FF) levels of estradiol (E 2 ), progesterone (P), testosterone (T), androstendione (A), 17 α -hydroxyprogesterone (17-OHP). In vitro accumulation of E 2 and P. Results Ovulation induction with FSH was successful in achieving follicular development despite low circulating E 2 . Fertilization and cleavage rates were similar to the control subjects. The patient developed ovarian hyperstimulation. The lack of 17,20-desmolase activity was detected by normal P levels in serum and FF, high 17-OHP, and low T, A, and E 2 levels in serum and FF. Granulosaluteal cell cultures in the presence of T restored normal E 2 and P production in response to gonadotropins. Conclusions In patients with 17,20-desmolase deficiency, follicular development, oocyte maturation, and fertilization can take place in a low estrogenic environment.