Induction of endometrial cycles and ovulation in a woman with combined 17alpha-hydroxylase/17,20-lyase deficiency due to compound heterozygous mutations on the p45017alpha gene.

OBJECTIVE

To describe the case of a Japanese woman with combined 17alpha-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 P45017alpha gene (CYP17), induction of endometrial maturation with steroid hormone replacement, and ovulation induction with gonadotropin.

MAIN OUTCOME MEASURE(S): Nucleotide sequence of CYP17, 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 17alpha-hydroxylase/17,20-lyase deficiency, but the endometrial response to steroid hormone replacement was extremely poor.