HYPERANDROGENISM DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY WITH ACCESSORY ADRENOCORTICAL TISSUE - A HORMONAL AND METABOLIC EVALUATION

1. Adrenal ectopic tissue has been detected in the paragonadal region of normal women. In patients with congenital adrenal hyperplasia due t o 21-hydroxylase (21-OH) deficiency, the manifestation of hyperplasia of paragonadal accessory adrenal tissue has been usually reported to o ccur in males. Probably, this is the first report of a female with 3be ta-hydroxysteroid dehydrogenase (3beta-HSD) deficiency with ectopic ad renal tissue in ovaries. However, the occurrence of hyperplasia of adr enal rests among women with classical congenital adrenal hyperplasia m ay not be rare, especially among patients with a late diagnosis.2. We report a woman with 3beta-HSD deficiency whose definitive diagnosis wa s made late at 41 years of age immediately before surgery for the remo val of a uterine myoma. During surgery, exploration of the abdominal c avity revealed the presence of bilateral accessory adrenal tissue in t he ovaries and in the para-aortic region. The patient had extremely hi gh levels of ACTH (137 pmol/l), DHEA (901.0 nmol/l), DHEA-S (55.9 mumo l/l), androstenedione (70.2 nmol/l), testosterone (23.0 nmol/l) and 17 alpha-hydroxypregnenolone (234.4 nmol/l) suggesting 3beta-HSD deficien cy. 3. In view of these elevated androgen levels, with an absolute pre dominance of DHEA and DHEA-S, we evaluated the effect of this hormonal profile on carbohydrate tolerance and insulin response to glucose ing estion. 4. The patient presented normal glucose tolerance but her insu lin response was lower than that of 14 normal women (area under the cu rve, 3beta-HSD = 17,680 vs 50,034 pmol/l for the control group over a period of 3 h after glucose ingestion). 5. These results support recen t data suggesting that patients with increased serum DHEA and DHEA-S l evels do not present resistance to insulin.