Critical Histopathologic Findings for Differential Diagnosis between True Hermaphroditism and Mixed Gonadal Dysgenesis / 대한비뇨기과학회지

ABSTRACT

PURPOSE: Differentiation of true hermaphroditism (TH), from mixed gonadal dysgenesis (MGD), in patients presenting with ambiguous genitalia and asymmetric gonad, is mandatory. However, clinical features, including chromosomal, hormonal, biochemical and radiological findings are not helpful in the differential diagnosis between these conditions, so histopathological diagnosis of the gonads is essential. We reviewed the clinicopathological features of TH and MGD to investigate the important histopathological criteria for the differential diagnosis. MATERIALS AND METHODS: The medical records of 38 patients with ambiguous genitalia were retrospectively reviewed. 8 patients had been diagnosed as TH or MGD, so their histological slides were reevaluated. We also studied the normal gonadal histology for the prenatal period in order to get basic knowledge on the histological features of premature testis and ovaries in infancy. RESULTS: To make a clear diagnosis between TH and MGD, the histological features of the ovarian compartment are important. The well-formed primordial, primary or mature follicles, with primary oocytes in TH, were distinguishable from the primitive germ cells in the ovarian-type stroma and primitive sex-cord like structures in MGD. On the contrary, the testicular compartment under both conditions was not critical for the differential diagnosis. A streaky gonadal portion should be examined to avoid missing the diagnosis of a streak-testis. CONCLUSIONS: The differential diagnosis between TH and MGD depends on the interpretation of the histological features of the gonads. For the purpose of a differential diagnosis, we have to understand the normal gonadal histology at the infantile period, and apply strict criteria to the gonads, such as testis, ovary, streak gonad and streak-testis through examination of the entire tissue.