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.Most patients with asymmetrical gonadal dysgenesis have testicular tissue on one side and a streak gonad on the other side.Some authors reserve the term mixed gonadal dysgenesis (MGD) for individuals who present a 45, X/46, XY karyotype with a testis on one side and a streak on the other side (1); other authors apply the term to all patients who have varying degrees of asymmetrical gonadal dysgenesis with testicular differentiation on either side, bilateral streak testis, or bilateral dysgenetic testis (2, 3); in contrast, true hermaphroditism (TH) is the rarest form of intersexuality in humans, and the term is applied to an individual who has both well-developed ovarian and testicular tissues.In four cases of TH, cytogenetic studies using peripheral blood showed different karyotypes.The six patients with MGD had the 45, X/46, XY karyotype in four cases, chromosomal mosaicism consisting of 45, X(93)/46, X,add(Y)(p11.3) (7) in one, and 46, XY in one (Table 1).Streak or streak gonad referred to the case composed almost exclusively of ovarian-type stroma without differentiated gonadal structures. The patients' ages at the time of their first visit to the hospital ranged from 1 to 36 months (mean, 18.1 mo).
In two patients, bilateral gonadectomies were performed because these two patients were clinically diagnosed as having MGD.
In the remaining two cases, normal-appearing gonads were not removed.
In one case, a unilateral gonadectomy with a biopsy on the opposite gonad was performed; and in the other case, only a unilateral gonadectomy was performed because the opposite gonad appeared radiologically and grossly normal.
The pathology reports and clinical records, including age, reared sex, cytogenetic results, hormonal profiles, and operative findings, were reviewed for all 10 patients.
Chromosomal analysis had been performed in all 10 cases on peripheral lymphocytes using conventional techniques.