PARTIAL 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY PRESENTING AS NEW-ONSET GYNECOMASTIA IN A EUGONADAL ADULT MALE

被引:4
作者
CAVANAH, SFW [1 ]
DONS, RF [1 ]
机构
[1] USAF,WILFORD HALL MED CTR,DEPT MED,ENDOCRINOL SECT,LACKLAND AFB,TX 78236
来源
METABOLISM-CLINICAL AND EXPERIMENTAL | 1993年 / 42卷 / 01期
关键词
D O I
10.1016/0026-0495(93)90173-L
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The postpubertal clinical presentation of 3β-hydroxysteroid dehydrogenase deficiency (3B-HSD deficiency) is less well-defined for adult males than for adult females, who often present with hirsutism. We describe a male with normal puberty who presented with new-onset gynecomastia at age 24. Common causes of gynecomastia were excluded. Dehydroepiandrosteronesulfate (DHEA-S), estradiol, estrone, and 24-hour urinary 17-ketosteroid levels were elevated. A feminizing tumor was considered; biochemical tumor markers, chest x-ray, ultrasound of testes, and abdominal computed tomography (CT) scan were negative. Dexamethasone-suppression testing showed normal suppression of 24-hour urinary adrenal steroids. Cosyntropin-stimulation testing showed normal cortisol, 11-deoxycortisol, 17-OH progesterone (17-OHP), and aldosterone levels, but significant elevations of pregnenolone (preg), 17-OH preg, progesterone, DHEA, and androstenedione (A) levels. The sperm count was high and gonadotropin-releasing hormone (GnRH)-stimulation testing showed a normal increase in testosterone (T) level, suggesting that the defect did not involve the testes. It is concluded that this patient's gynecomastia is due to 3B-HSD deficiency with an associated alteration in sex hormone ratios. To our knowledge, this is the first well-described adult male with normal gonadal function presenting with postpubertal gynecomastia due to 3B-HSD deficiency. This defect may be a frequently unrecognized cause of gynecomastia. © 1993.
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页码:65 / 68
页数:4
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