Abstract
BackgroundHyperandrogenemia in women is most commonly associated with polycystic ovary syndrome, but is very rare due to abnormal sexual development.
Case presentationWe report a 16-year-old girl who initially visited at the Reproductive Endocrinology Unit for "primary amenorrhea" and was found to have a "naive uterus". Then uterine growth was promoted by using oral natural estrogens and progestins, followed by oral contraceptives to help breast development and inducing menstruation. However, when the patient visited one year later, the high level of serum testosterone was found by another senior physician (testosterone fluctuating from 0.828-3.91 ng /ml during the unmedicated period) in the outpatient clinic.
Therefore, many tests have been scheduled for this young woman to find the source of high level testosterone, including pelvic ultrasound to check the ovary, abdominal ultrasound to examine the adrenal gland, blood test to check the chromosome and adrenal-related hormones，MRI to examine the development of organs in the pelvis. The patient was admitted to the hospital and underwent laparoscopic exploratory surgery, testis-like tissue was found by both naked eye and pathological biopsy. The postoperative paraffin pathology report confirmed that the patient was a OT-DSD with one ovary (left) and one ovotestis (right). Testosterone decreased to 0.12 ng/ml on the first postoperative day.
Conclusions In patients with menstrual disorders who have hyperandrogenemia, even if they have normal chromosomes and normal vulvar development, the focus of the diagnosis and treatment is to find out the source and cause of androgens and to treat the cause, instead of simply using drugs to achieve the purpose of reducing androgens and inducing menstruation. Gynecologic endocrinologists and ultrasonographers should be aware of the clinical status of the presence of such rare diseases as ovotestis.