Induction of endometrial cycles and ovulation in a woman with combined 17α-hydroxylase/17,20-lyase deficiency due to compound heterozygous mutations on the P45017α gene

Objective: To describe the case of a Japanese woman with combined 17 alpha-hydroxylase/17,20-lyase deficiency (congenital adrenal hyperplasia type V) and to discuss possible therapeutic procedures in such patients. Design: Case report. Setting: University hospital. Patient(s): A 26-year-old woman with secondary amenorrhea and primary sterility. Intervention(s): Nucleotide sequencing of the P45017 alpha: gene (CYPI7), induction of endometrial maturation with steroid hormone replacement, and ovulation induction with gonadotropin. Main Outcome Measure(s): Nucleotide sequence of CYPI7, endometrial thickness and follicle diameter measured by transvaginal ultrasonography, and histologic evaluation of the endometrium. Result(s): Two different mutations were detected on CYP17: One was a deletion of the phenylalanine codon (TTC) at either amino acid 53 or 54 in exon 1, and the other was a missense mutation with the substitution of histidine (CAC) by leucine (CTC) at position 373 in exon 6. Repeated histologic evaluations performed during treatment with P consistently revealed an unripe endometrium with glands of the early secretory phase and markedly scanty stroma. Ultrasound examination revealed follicular growth and ovulation after gonadotropin administration, but insufficient thickness of the endometrium. Conclusion(s): Ovulation induction was possible in this patient with 17 alpha-hydroxylase/17,20-lyase deficiency but the endometrial response to steroid hormone replacement was extremely poor. ((C) 2000 by American Society for Reproductive Medicine.)