FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 328:1297-1301 May 6, 1993 Number 18 Next

	Full Text Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

ABSTRACT

Background 17-Ketosteroid reductase deficiency results in male pseudohermaphroditism because conversion of the weak androgen androstenedione to the more potent androgen testosterone is impaired. If a late-onset form exists, hypogonadism and gynecomastia caused by decreased testosterone production and increased estrogen production, respectively, would be expected as the major clinical manifestations in men.

Methods We studied 48 male subjects, ranging from 14 to 26 years of age, who had idiopathic pubertal gynecomastia. Serum concentrations of gonadal and adrenal steroid hormones were measured before and after the administration of corticotropin and after the combined administration of chorionic gonadotropin and dexamethasone for three days.

Results We identified three unrelated subjects (ages, 16, 17, and 26 years) with results indicative of a partial deficiency of testicular 17-ketosteroid reductase. The three subjects had gynecomastia as well as decreased libido and impotence. Their mean (±Sd) base-line serum androstenedione and estrone concentrations were elevated as compared with the levels in the 45 subjects without this enzyme deficiency (androstenedione, 380 ±70 vs. 110 ±70 ng per deciliter [13 ±2 vs. 4 ±2 nmol per liter]; estrone, 138 ±12 vs. 46 ±9 pg per milliliter [511 ±44 vs. 170 ±33 pmol per liter]). After the administration of chorionic gonadotropin, the mean serum androstenedione concentration in these three subjects was 910 ±48 ng per deciliter (32 ±2 nmol per liter) and the mean serum estrone concentration was 260 ±16 pg per milliliter (962 ±59 pmol per liter). The mean serum testosterone concentration at base line was 210 ±80 ng per deciliter (7.4 ±2.8 nmol per liter) in the 3 subjects, as compared with a value of 410 ±12 ng per deciliter (14.4 ±0.42 nmol per liter) in the 45 other subjects, and it did not increase in response to the administration of chorionic gonadotropin. The concentrations of androstenedione and estrone in spermatic venous serum were 19 times higher and 73 times higher, respectively, than in normal men. The serum concentrations of follicle-stimulating hormone and luteinizing hormone in these three subjects were inappropriately low, suggesting the presence of hypogonadotropic hypogonadism.

Conclusions A late-onset form of testicular 17-ketosteroid reductase deficiency can cause gynecomastia and hypogonadism in men.

Source Information

From the Division of Pediatric Endocrinology and Genetics, Winthrop-University Hospital, Mineola, N.Y., and the Health Science Center, State University of New York at Stony Brook, Stony Brook.

Address reprint requests to Dr. Castro-Magana at the Division of Pediatric Endocrinology, Winthrop-University Hospital, 107 Mineola Blvd., Mineola, NY 11501.

Full Text of this Article

This article has been cited by other articles:

• Demura, M., Martin, R. M., Shozu, M., Sebastian, S., Takayama, K., Hsu, W.-T., Schultz, R. A., Neely, K., Bryant, M., Mendonca, B. B., Hanaki, K., Kanzaki, S., Rhoads, D. B., Misra, M., Bulun, S. E. (2007). Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene. Hum Mol Genet 16: 2529-2541 [Abstract] [Full Text]  
• Binder, G., Iliev, D. I., Dufke, A., Wabitsch, M., Schweizer, R., Ranke, M. B., Schmidt, M. (2005). Dominant Transmission of Prepubertal Gynecomastia Due to Serum Estrone Excess: Hormonal, Biochemical, and Genetic Analysis in a Large Kindred. J. Clin. Endocrinol. Metab. 90: 484-492 [Abstract] [Full Text]