True hermaphroditism: an analytic review with a report of 3 new cases

Abstract

Three new cases of true hermaphroditism are described: a 14-year-old patient with a testis on one side and an ovotestis on the other side and a 11-year-old patient as well as a 6-year-old patient both with an ovary on the one side and an ovotestis on the other side. Twenty-four cases, which were personally investigated, were previously reported. Therefore, this analytic review is based upon the author's experience of 27 cases as well as 340 cases reported in the world literature since 1899. The presenting symptoms and age of diagnosis are discussed. Apart from ambiguous genitals, the development of breasts in a patient reared as male is an important presenting symptom. The variations found regarding the external and internal genitals are described. An ovotestis is the most common gonad found in true hermaphroditism. Among 116 ovotestes available for analysis, 46 per cent are located in an ovarian position, 26 per cent in the labioscrotal fold, 24 per cent in the inguinal canal, and 4 per cent in the internal inguinal ring. Evidence of ovulation is found in 50 per cent of ovotestes. Spermatogenesis has not been observed in the testicular portion of an ovotestis. Spermatogenesis was present in only 12 per cent of testes found in true hermaphroditism. Dysgerminomas occur with a frequency of 1.3 per cent. A fallopian tube and a vas deferens were never found together next to an ovotestis. Cytogenetic findings are reported in 115 cases of true hermaphroditism, including the cases described in this paper. A 46,XX chromosomal complement is the most common finding, occurring in 57.4 per cent of cases. It is interesting that 42.6 per cent showed no evidence of a Y chromosome. With the use of the fluorescent technique in metaphase chromosomes as well as the Y chromatin body in interphase cells, no Y chromosome was detected in the three new cases reported here. The various possibilities for the development of testicular tissues in the absence of a Y chromosome are discussed. In the diagnosis of true hermaphroditism the palpation of an ovotestis with a soft testicular portion and a firm ovarian portion is stressed. As far as the treatment of true hermaphroditism is concerned, the external genitals should be changed according to the gender identity which usually correlates with the sex of rearing.