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This version published online on February 15, 2005
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2004-2067
A more recent version of this article appeared on May 1, 2005
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Submitted on October 19, 2004
Accepted on February 4, 2005

Subtle 17{alpha}-Hydroxylase/17,20-Lyase Deficiency with Homozygous Y201N Mutation in an Infertile Woman

MATSUO TANIYAMA*, MAKITO TANABE, HIROSHI SAITO, YOSHIO BAN, HAJIME NAWATA, and TOSHIHIKO YANASE

Division of Endocrinology & Metabolism, Department of Internal Medicine (Mat.T.), Department of Obstetrics & Gynecology (H.S.), Showa University Fujigaoka Hospital, Third Department of Internal Medicine, Showa University School of Medicine (Mat.T., Y.B.), Third Department of Internal Medicine, Faculty of Medicine, Kyushu University (Mak.T, H.N., T.Y.)

* To whom correspondence should be addressed. E-mail: taniyama{at}showa-university-fujigaoka.gr.jp.

Steroid 17{alpha}-hydroxylase deficiency (17OHD) is characterized by failed sexual development and mineralocorticoid hypertension. Female patients usually exhibit primary amenorrhea. Some patients with partial deficiency are reported to have menses, yet they have hypertension and hypokalemia. We describe here a normotensive, infertile female patient with menses and minimal defects in secondary sex characteristics.

The patient experienced menarche at age 13, and her menstrual cycles were regular until age 18 and irregular thereafter. Pubic hair was present (Tanner stage 3), and breast maturation was within normal range (Tanner stage 5). The patient's resting blood pressure was normal, and hypokalemia was not observed despite high blood corticosterone levels and reduced plasma renin activity. Analysis of the CYP17 gene revealed that the patient was homozygous for the Y201N mutation. In vitro expression of the mutated Y201N enzyme revealed reduced activities of both 17{alpha}-hydroxylase and 17,20-lyase, however, these reductions were less than those of the F53/54DEL mutation, which also shows mild clinical deficiency of 17{alpha}-hydroxylase/17,20-lyase. Thus, the 17{alpha}-hydroxylase/17,20-lyase deficiency in the present case is very mild both clinically and enzymatically. This case raises the possibility that there are infertile, menstruating women with undiagnosed 17OHD.




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