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Estrogen and Androgen Production Rates in Two Brothers with Reifenstein Syndrome^*

ALIREZA GUERAMI, JAMES E. GRIFFIN, WILLIAM J. KOVACS, PLACIDO B. GRINO, PAUL C. MACDONALD and JEAN D. WILSON

Cecil H. and Ida Green Center for Reproductive Biology Sciences and the Departments of Obstetrics and Gynecology (A.G., P.C.M.) and Internal Medicine (J.E.G., W.J.K., P.B.G., J.D.W.), University of Texas Southwestern Medical Center Dallas, Texas 75235

Address requests for reprints to: Dr. Jean D. Wilson, Division of Endocrinology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75235–8857.

Defects of the androgen receptor in 46,XY individuals cause aberrant virilization that varies from a female phenotype to men with minor defects. More severely affected individuals also develop gynecomastia associated with enhanced estradiol secretion by the testis. However, the degree of breast development does not correlate with the rate of estrogen production, leading us to propose that feminization is a function of the degree of androgen resistance as well as the rate of estrogen formation. To test this hypothesis we measured estrogen and androgen formation in two brothers with perineoscrotal hypospadias and severe gynecomastia (the Reifenstein phenotype) due to a mutation that impairs androgen receptor function. Rates of estradiol production (60 and 70 µg/day) were elevated, but were not as high as in previously studied men with a similar phenotype. We conclude that the variable degree of feminization in this disorder cannot be explained by androgen resistance alone.

^* This work was supported by Grants DK-03892 and RR-0063 from the NIH. This study has been reported in abstract form (Abstract 703, p. 206, The Endocrine Society 68th Annual Meeting, Anaheim, CA, June 25–27,1986).

Recipients of fellowships under Training Grant DK-07307 from the NIH.

Received January 8, 1990.

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