Hyperandrogenism due to 3ß-hydroxysteroid dehydrogenase deficiency with accessory adrenocortical tissue: A hormonal and metabolic evaluation

• Type: Article in International Scientific Journal
• Date: 1994

Authors

Paula, FJA (Author) Other; Dick De Paula, I (Author) Other; Pontes, A (Author) Other; Fernando Schmitt (Author) Other; Mendonca, BB (Author) Other; Foss, MC (Author) Other

Journal

Title: Brazilian Journal of Medical and Biological Research

Vol. 27

Pages: 1149-1158

ISSN: 0100-879X

Publisher: Associacao Brasileira de Divulgacao Cientifica

Indexing

Scopus - 25 Citations

Other information

Authenticus ID: P-008-PR6

Abstract (EN): Adrenal ectopic tissue has been detected in the paragonadal region of normal women. In patients with congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency, the manifestation of hyperplasia of paragonadal accessory adrenal tissue has been usually reported to occur in males. Probably, this is the first report of a female with 3ß-hydroxysteroid dehydrogenase (3ß-HSD) deficiency with ectopic adrenal tissue in ovaries. However, the occurrence of hyperplasia of adrenal rests among women with classical congenital adrenal hyperplasia may not be rare, especially among patients with a late diagnosis. We report a woman with 3ß-HSD deficiency whose definitive diagnosis was made late at 41 years of age immediately before surgery for the removal of a uterine myoma. During surgery, exploration of the abdominal cavity revealed the presence of bilateral accessory adrenal tissue in the ovaries and in the para-aortic region. The patient had extremely high levels of ACTH (137 pmol/l), DHEA (901.0 nmol/l), DHEA-S (55.9 ¿mol/l), androstenedione (70.2 nmol/l), testosterone (23.0 nmol/l) and 17¿-hydroxypregnenolone (234.4 nmol/l) suggesting 3ß-HSD deficiency. In view of these elevated androgen levels, with an absolute predominance of DHEA and DHEA-S, we evaluated the effect of this hormonal profile on carbohydrate tolerance and insulin response to glucose ingestion. The patient presented normal glucose tolerance but her insulin response was lower than that of 14 normal women (area under the curve, 3ß-HSD = 17,680 vs 50,034 pmol/l for the control group over a period of 3 h after glucose ingestion). These results support recent data suggesting that patients with increased serum DHEA and DHEA-S levels do not present resistance to insulin.

Language: English

Type (Professor's evaluation): Scientific