Virilizing adrenal adenoma and primary amenorrhea in a girl with adrenal hyperplasia.
We report a 14-year-old girl with primary amenorrhea and virilization. The chromosomal analysis showed a normal 46,XX female karyotype and the hormonal assays disclosed high serum levels of testosterone (T): 450 ng/dL (normal 5-90), dehidroepiandrosterone-sulfate (DHEA-S): 690 microg/dL (normal 30-450) and 17-hydroxiprogesterone (17-OHP) >20 ng/mL (normal <2). A pelvic ultrasound disclosed a small uterus and bilateral enlargement of the ovaries, a computed axial tomographic scan of the abdomen identified a large right mass in the adrenal gland and a norcholesterol-I 131 adrenal gammagraphy revealed a functional adrenal tumor. The histological analysis of the surgical removed tumor revealed and adrenal adenoma. After surgery, a steep decline to normal serum levels of T and DHEA-S was observed, remaining an elevated level of 17-OHP: 5.4 ng/mL. During the first three months of follow up, the hirsutism declined sharply and spontaneous mammary development occurred, remaining elevated the 17-OHP serum level: 4.8 ng/mL. Prednisone 5 mg/day, was initiated decreasing the 17-OHP to normal level: 1.4 ng/mL, appearing the menarche followed by cyclical menses. One year after surgery, prednisone was withdrawn during one week, and an ACTH test and HLA typing were done, disclosing a 17-OHP response of an heterozygote for adrenal hyperplasia, and identifying B65 a subtype of B14, and DR1, that are frequently associated to adrenal hyperplasia. Previous reports have informed silent adrenal tumors associated to adrenal hyperplasia, but this is the first report of a functional adrenal tumor associated to adrenal hyperplasia.
Forsbach
G
G
Department of Endocrinology, Hospital de Gineco-Obstetricia, Monterrey, NL, México. gefor@sysop.com.mx
Güitrón-Cantú
A
A
Vázquez-Lara
J
J
Mota-Morales
M
M
Díaz-Mendoza
M L
ML
D000236:Adenoma / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis* / Q000235:genetics; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics; D000568:Amenorrhea / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007621:Karyotyping; D014057:Tomography, X-Ray Computed; D014770:Virilism / Q000175:diagnosis* / Q000235:genetics