Ovarian Leydig cell tumor in a post-menopausal patient with severe hyperandrogenism / Tumor ovariano de células de Leydig em paciente em pós-menopausa com hiperandrogenismo grave

Leydig cell tumors are rare ovarian steroid cell neoplasms. More than 75% of patients show signs of virilization due to overproduction of testosterone. We report a case of an 8-year-old woman with progressive signs of virilization, and presenting vaginal bleeding. Clinical analyses revealed high levels of serum testosterone, delta 4-androstenedione and estradiol, and also inappropriate low levels of gonadotrophins for a post-menopausal woman. Transvaginal ultrasound showed no evidence of ovarian tumor, but pelvic and abdominal computerized axial tomography imaging revealed a left ovarian solid nodule, and no evidence of alteration in the adrenal glands. Total hysterectomy and bilateral salpingoophorectomy were performed. Histopathology and immunohistochemistry confirmed the diagnosis of Leydig cell tumor. After surgery, androgen levels returned to normal, and there was regression of the signs of virilization.

Tumores ovarianos de células de Leydig são neoplasias raras de células ovarianas esteroidogênicas. Mais de 75% dos pacientes apresentam sinais de virilização devido à produção excessiva de testosterona. Relatamos aqui o caso de uma mulher de 81 anos de idade com sinais progressivos de virilização e ocorrência de sangramento vaginal. As análises clínicas mostraram altos níveis de testosterona sérica, delta 4-androstenediona e estradiol, além de níveis inadequadamente baixos de gonadotrofinas para uma mulher em pós-menopausa. O ultrassom transvaginal não apresentou evidências de tumor ovariano, mas a tomografia axial computadorizada da região pélvico-abdominal mostrou um nódulo sólido no ovário esquerdo e nenhuma evidência de alteração nas adrenais. Foi feita uma histerectomia total e salpingooforectomia bilateral. Os exames histopatológicos e a imuno-histoquímica confirmaram o diagnóstico de tumor de células de Leydig. Após a cirurgia, os níveis de androgênios voltaram ao normal, e os sinais de virilização regrediram.

Testosterona falsamente elevada em uma paciente diabética tipo 1 com acne e insuficiência renal crônica em diálise / Falsely elevated testosterone in a type 1 diabetes patients with acne and chronic renal failure on dyalisis

Descrevemos uma paciente com diabetes tipo 1 com acne e insuficiência renal crônica, em diálise, que apresentou uma dosagem de testosterona total e livre elevada (612 ng/dL, normal < 90 ng/dL e 255 pMol/L, normal: 20-45 pMol/L, respectivamente). Na avaliação clínica, além da acne facial não havia qualquer outro sinal de hiperandrogenismo. Após ter esse resultado confirmado, ela foi submetida à avaliação morfológica de adrenal e ovários (tomografia computadorizada de adrenal e ultrassom pélvico), cujos resultados foram normais. Na ausência de quadro clínico de virilização, foram consideradas outras possibilidades que pudessem explicar a elevação da testosterona, entre as quais a presença de comorbidades (diabetes e insuficiência renal crônica) e falha do método de dosagem. Uma nova determinação da testosterona total, por meio da cromatografia líquida de alta performance como método preparativo e espectrometria de massa em tandem, resultou normal (21 ng/dL), compatível com uma concentração de testosterona total falsamente elevada pela presença de interferentes com o método de dosagem.

The purpose of this report is to present the case of a patient with type 1 diabetes with acne and chronic renal failure on dialysis admitted to the hospital with high total total and free testosterone (612 ng/dL, normal < 90 ng/dL; 255 pMol/L, normal: 20-45 pMol/L). On clinical evalua­tion, she presented facial acne, and no other signs of hyperandrogenism. As this result was confirmed, she underwent adrenal and ovary morphological assessment (adrenal CT and pelvic ultrasound), which yielded normal results. Due to divergence between clinical and laboratory findings, we considered other possibilities that could explain the elevation of testosterone, including the presence of comorbidities (diabetes and chronic renal failure) and failure of the testosterone assay. Testosterone levels were determined again by high performance liquid chromatography, as a preparative method, and tandem mass spectrometry, yielding normal results (21 ng/dL), which were compatible with a falsely elevated total testosterone level caused by the presence of factors that intereferred with the assay.

Ovarian Thecoma with Virilizing Manifestations

A 29-year-old woman presented with secondary amenorrhea, primary infertility, and virilization, which had developed over the past 2 years was suspected to have a virilizing tumor at her left ovary. Her serum testosterone level was markedly elevated (380 ng/dL). Left salpingooophorectomy was performed, and histopathological examination revealed a thecoma of the left ovary. The postoperative serum testosterone level returned to 65 ng/dL. The patient did not have regression of virilism soon. However, the patient had a normal menstruation 29 days after surgery and gave birth to a baby 13 months after surgery.

Congenital adrenal hyperplasia among peripubertal girls with hyperandrogenism.

Fifteen girls with severe hyperandrogenism were investigated by us during the last 6 years. Thirteen of these were cases of untreated congenital adrenal hyperplasia (CAH) and 2 were cases of tumoral (one sertoli leydig cell tumor of the ovary and one adrenal adenoma) hyperandrogenism. Here we present the clinical profile and laboratory data of those with congenital adrenal hyperplasia. All the girls had masculinization of genitalia (clitoromegaly alone 5, clitoromegaly with varying degree of posterior labial fusion 8). Eleven cases had hirsutism and 9 had short stature. Two patients underwent unilateral adrenelectomy with diagnosis of adrenal adenoma. Hormonal profile confirmed the diagnosis of CAH with 21 hydroxylase deficiency (elevated 17 OHP levels with exaggerated 17 OHP response to ACTH) in 12 cases and 3 beta hydroxy steroid dehydrogenase deficiency (elevated DHEAS and 17 pregnenelone levels and exaggerated DHEAS and 17 pregnenelone response to ACTH) in one case.