Suspected burned-out ovarian germ cell tumor in Turner mosaicism: a diagnostic challenge-what is your diagnosis?

Suspected burned-out ovarian germ cell tumor in Turner mosaicism: a diagnostic challenge-what is your diagnosis?A 31-year-old nulliparous woman presented to the gynecology outpatient department with primary amenorrhea and intermittent lower abdominal pain of 10-15 days' duration.She reported a single episode of scant vaginal spotting eight years earlier.There was no history of cyclical abdominal pain, hormonal therapy, or prior evaluation for primary amenorrhea.On general examination, she was conscious and oriented, of short stature (height 135 cm), and thinly built with a body mass index of 18.02 kg/m 2 .Head and neck examination revealed a diffusely enlarged thyroid gland with multiple palpable nodules, without compressive symptoms.Cardiovascular and respiratory examinations were within normal limits.Secondary sexual characteristics were poorly developed, with Tanner stage II breast development, absent axillary hair, and sparse pubic hair (Figure 1).Abdominal examination revealed a firm, tender abdominopelvic mass corresponding to a 26-28-week gravid uterus, predominantly cystic in consistency.External genital examination showed hypoplastic labia majora and minora, with a normal-appearing vagina.Laboratory investigations revealed markedly elevated thyroid-stimulating hormone levels (70.8 µIU/mL) with strongly positive antithyroid peroxidase antibodies (>1100 IU/mL), consistent with autoimmune thyroiditis.Gonadotropins were significantly increased (follicle-stimulating hormone 127.99 mIU/mL, luteinizing hormone 47.23 mIU/mL) with low estradiol levels (17.5 pg/mL), indicating a hypergonadotropic hypogonadal state.Lactate dehydrogenase (LDH) was elevated (364 U/L), and cancer antigen-125 (CA125) was mildly raised (42.4 U/mL), while alpha-fetoprotein (2.88 ng/mL) and β-human chorionic gonadotropin (3.40 mIU/mL) were within normal limits.All other investigations, including complete blood counts, liver and renal function tests, coagulation profile, and chest radiography, were unremarkable.Neck ultrasonography showed altered echotexture of both thyroid lobes with a multinodular goiter in the right lobe.Pelvic ultrasonography revealed a large, well-defined multiloculated cystic lesion arising from the right adnexa, with multiple internal septations.One septum measured 4-4.5 mm and showed mild vascularity.Papillary excrescences measuring 2×0.5 cm were noted inferiorly without vascularity.Internal echoes were present, with no mural nodules or calcifications (Figure 2).The right ovary was not visualized separately.The uterus was small (3.9×1.8×3.2 cm) with an ill-defined endomyometrial junction, and the left ovary was not seen.Magnetic resonance imaging confirmed a hypoplastic uterus measuring approximately 3×6 cm, with a uterus-to-cervix ratio of 2:1 and an endometrial thickness of 2 mm.A large, thin-walled, multiloculated cystic lesion (10.6×7.2×10.2cm) extended from the midline pelvis to the lower abdomen, reaching the level of the umbilicus.The lesion was T1 hypointense and T2 hyperintense, with irregular thickened septations (maximum thickness 5.4 mm).Some locules showed T1/FS hyperintensity, suggestive of hemorrhagic or proteinaceous content.Neither of the ovaries was visualized separately.Minimal perilesional omental edema was present, without significant lymphadenopathy or ascites.A heterogeneously enhancing tissue, extending from the uterus to the cystic lesion