Late-onset 3 beta-hydroxysteroid dehydrogenase deficiency with virilization induced by a large ovarian cyst.
A midpubertal girl presented with secondary amenorrhea and a rapidly progressive deepening of her voice as the only signs of virilization. Diagnostic work-up yielded an extremely elevated plasma testosterone (289 ng/dl), low estradiol (29 pg/ml) levels and a large solitary cyst of the right ovary, which was totally removed. Pathohistology was in keeping with a granulosa cyst with mild luteinization. Normalization of testosterone (to 27.3 ng/dl) and estradiol (to 62 pg/ml) and resumption of regular menses after 2 months clearly indicated an autonomous function of the cyst. A malignant tumor was unequivocally excluded. Basal and ACTH stimulated levels of adrenal androgens pointed to a late-onset 3 beta-hydroxysteroid dehydrogenase deficiency, which per se is known to induce polycystic ovarian changes, but to date has never been described to be accompanied with a large and autonomous follicular cyst.
Heinrich
U
U
Department of Paediatrics, University of Heidelberg, FRG.
Eberlein-Gonska
M
M
Benz
G
G
Haack
D
D
Otto
H F
HF
D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D005260:Female; D006801:Humans; D010048:Ovarian Cysts / Q000150:complications / Q000201:enzymology* / Q000601:surgery; D013739:Testosterone / Q000097:blood; D014770:Virilism / Q000201:enzymology / Q000209:etiology*
D013739:Testosterone; D015096:3-Hydroxysteroid Dehydrogenases