The Turkish Journal of Pediatrics
2013 , Vol 55 , Num 4
A Girl with Steroid Cell Ovarian Tumor Misdiagnosed as Non-Classical Congenital Adrenal Hyperplasia
Clinics of 1Pediatric Endocrinology, 2Pathology, and 3Pediatric Surgery, Dr. Sami Ulus Children's Training and Research
Hospital, Ankara, Turkey. E-mail: sebahatyilmaz@yahoo.com
Ovarian steroid cell tumors are rarely encountered in prepubertal girls. The
majority of these tumors produce hormones, testosterone being the leading one.
These tumors may either coexist with or imitate congenital adrenal hyperplasia
(CAH). We present a 13-year-old female patient who was diagnosed with
non-classical CAH at six years of age while being investigated for premature
pubarche. She was diagnosed with steroid cell ovarian tumor after a delay of
six years. The diagnosis was based on radiologic imaging, which was performed
to investigate causes of unsuccessful metabolic control while under high-dose
steroid therapy. The right ovarian hypoechoic mass of 23x22 mm was excised
laparoscopically, preserving the ovary. Immunohistochemical staining showed
that tumor cells were strongly positive with inhibin and focally positive with
vimentin. Based on these findings, the patient was diagnosed with ovarian
steroid cell tumor not otherwise specified. In the postoperative second week,
total testosterone level was <10 ng/ml, and 17-hydroxyprogesterone (17-OHP)
level was 1.1 ng/ml. Peak 17-OHP level was 4.2 ng/ml on repeated ACTH
stimulations, and the diagnosis of CAH was excluded. Steroid therapy was
tapered down and then discontinued.
It should be kept in mind that there may be a misdiagnosis in cases of CAH, which may present itself with unsuccessful metabolic control even while under the appropriate treatment dose. Early diagnosis and treatment would prevent the development of irreversible signs.
Keywords : steroid cell ovarian tumor, congenital adrenal hyperplasia, hyperandrogenism.