True Hermaphroditism and Mixed Gonadal Dysgenesis in Young Children: A Clinicopathologic Study of 10 Cases

Abstract

True hermaphroditism (TH) refers to individuals who have both unequivocal ovarian tissue and testicular elements regardless of their karyotypes; whereas mixed gonadal dysgenesis (MGD) refers to individuals who usually have a differentiated gonad on one side and a streak gonad or streak testis on the other side. A differential diagnosis between the TH and MGD has important clinical implications for gender assignment and the decision for early gonadectomy; however, variable clinical and histological features frequently lead to the confusion of TH with MGD. We reviewed the clinicopathological features of TH (n ‫؍‬ 4) and MGD (n ‫؍‬ 6) in young children to identify which morphological features are important for a differential diagnosis between the two conditions. In both conditions, the testicular compartment was composed of immature seminiferous tubules lined by immature Sertoli cells and primitive germ cells; this finding was not helpful for a differential diagnosis. The ovarian compartment in TH cases showed numerous primordial follicles containing primary oocytes with a few primary or antral follicles; however, ovarian compartments in patients with MGD were characterized by primitive sex-cordlike structures with or without germ cell components within the ovarian-type stroma, mimicking gonadoblastomas in two cases and granulosa cell or Sertoli cell tumors in three cases. Hormonal profiles, cytogenetic results, and an internal duct system were not helpful in a differential diagnosis. In conclusion, a differential diagnosis between TH and MGD is largely dependent on the histological features of the gonads. Therefore, examination of all resected or biopsied tissue and the application of strict histological criteria are important.

Multiple Pregnancies

“…The condition most closely resembles the famous statement of Faust written by Goethe: "Zwei Seelen wohnen, ach! in meiner Brust, Die eine will sich von der andern trennen…" Most total body chimeras are discovered when the two populations of cells have different sex chromosomes (XX/ XY), which frequently results in gonadal abnormalities, most common among which is true hermaphroditism (see also Kim et al 2002 ) . The diagnosis was initially made by amniocentesis in a detailed report by Lawce ( 1985 ) .…”

Pregnancy in a hermaphrodite with a male-predominant mosaic karyotype

“…In patients with mixed gonadal dysgenesis, a streak gonad is present on one side and a testis on the other. In one third of patients with mixed gonadal dysgenesis, a gonadoblastoma tumor will develop by the fourth decade of life, and 30% of these tumors will be malignant (12). In contrast to patients with mixed gonadal dysgenesis, true hermaphrodites have a lower risk, 10%, of development of a gonadoblastoma, and generally this occurs only in those patients with mosaic genotypes (2).…”

“…The likelihood of malignancy in the gonads of true hermaphrodites appears to be lower than in those of patients with mixed gonadal dysgenesis. Thus, if true hermaphrodites are willing to accept the risk of a malignancy developing in their gonads, they may elect to preserve the possibility of fertility by declining-or delaying-gonadectomy (12).…”

The Body As Crowbar

“…It refers to the presence of both testicular and ovarian tissue in the same individual (Kim et al, 2002). In addition to true hermaphrodism, the more common pseudo-hermaphrodism is distinguished.…”