Clinical and pathologic findings
The patient presented to our clinic at 18 years of age because of primary amenorrhea and hypoplasia of uterus found in local hospital. Physical examine revealed normal height (168cm) and weight (45kg), phenotypically female external genitalia, hypoplastic uterus, sparse axillary hairs (Tanner II), undeveloped breast (Tanner I-II), normal vaginal depth (6cm) (Fig. 1A/B). Ultrasonography exams showed a small uterus (2.22*2.14*1.33cm), smaller gonads than normal (left 1.7*0.9, right 2.7*2.3 containing 2.1*1.8cm ambiguous swelling).
Endocrinologic investigations of blood serum showed hypergonadotropic hypogonadism with elevated FSH 109.58 (3.85-8.78 IU/L) and LH 53.25 (2.12-10.98U/L), minor reduced E2 32 (27-122 pg/ml), and normal female testosterone 0.33ug/L (0.1-0.75 ug/L), normal Prog 0.70 (0.31-1.52 ug/L) and PRL 9.00 (3.34-26.72ug/L).
Exploratory laparoscopy was performed to determine the nature of the gonadal tissues. The result showed a naive uterus, normal bilateral fallopian tubes, dysplastic gonadal tissues (left 1.5*1*1cm, right 3*2.5*2cm) (Fig. 1C/D/E).
Excised gonadal tissues were examined by microscopic histomorphology combined with immunohistopathology. The results revealed normal bilateral fallopian tube tissue, gonadoblastoma and local dysgerminoma (Fig. 1F/G/H).