Article: Partial 3 beta-hydroxysteroid dehydrogenase deficiency presenting as new-onset gynecomastia in a eugonadal adult male.
Metabolism: clinical and experimental
1993 Volume 42, Issue 1, Page(s) 65–68
Abstract: ... of gynecomastia were excluded. Dehydroepiandrosterone-sulfate (DHEA-S), estradiol, estrone, and 24-hour urinary 17 ...
| Abstract | The postpubertal clinical presentation of 3 beta-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. Dehydroepiandrosterone-sulfate (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. |
|---|---|
| MeSH term(s) | 3-Hydroxysteroid Dehydrogenases/deficiency ; Adrenal Glands/blood supply ; Adult ; Cosyntropin ; Gonadal Steroid Hormones/blood ; Gynecomastia/diagnosis ; Gynecomastia/etiology ; Humans ; Injections, Intravenous ; Male ; Veins ; Venae Cavae |
| Chemical Substances | Gonadal Steroid Hormones ; Cosyntropin (16960-16-0) ; 3-Hydroxysteroid Dehydrogenases (EC 1.1.-) |
| Language | English |
| Publishing date | 1993-01 |
| Publishing country | United States |
| Document type | Case Reports ; Journal Article |
| ZDB-ID | 80230-x |
| ISSN | 1532-8600 ; 0026-0495 |
| ISSN (online) | 1532-8600 |
| ISSN | 0026-0495 |
| DOI | 10.1016/0026-0495(93)90173-l |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
In stock of ZB MED Cologne/Königswinter
| Uc I Zs.316: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.