Table 3: Additional clinical data in patients with known histology results.

NumberAgeGenderKaryotypeQuigley stageHormonal analysisImagingSurgeryMutationHistologyDiagnosis

133Female46 XY4Very high testosterone with slightly increased values of gonadotropinsNo abnormalitiesLaparoscopyNoOvarian Leydig cell tumor lacking histological signs of malignancyDisorder of androgen excess

223Female46 XY6High basal testosterone levelNo abnormalitiesGonadectomyAR negLeydic cell hyperplasia and atrophy of most seminiferous tubules but no evidence of CISDisorder of androgen action

313Male46 XY3High basal testosterone levelGonads not in situ* no uterus and adnexa 1/3 vagina presentLaparoscopy gonadectomy AR negCISPAIS

43Male46 XX/XY2hCG test: good response testosteroneNo abnormalitiesGonadectomySRY negOvarian tissue with multiple cysts including primordial follicles and granulosa cellsGonadal dysgenesis

*Gonads already removed before ultrasound.