Are there real hermaphrodites

Prev Next. Endocrine Abstracts 7 P Author affiliations. The diagnosis requires the presence of both ovarian and testicular tissue in either the same or opposite gonads. Volume 7 Next Prev. Summary Abstracts. Article tools. Chimerism connotes the presence in a single individual of cells derived from different zygotes.

The phenomenon is proved by detection of two populations of cells, usually erythrocytes with different blood types, in a single individual. At least three types of chimerism are known: 1 blood chimerism interchange of blood cells between co-twins through placental anastomoses ; 2 transplacental chimerism interchange of fetal and maternal blood cells ; and 3 whole-body chimerism. Whole-body chimerism can be assumed if two or more genotypes are 1 present in nonhematogenous tissues skin or gonads or 2 persist in hematogenous tissues.

The frequency of whole-body chimerism may be underestimated, since chimeric individuals are usually ascertained because of abnormal sexual development e. Thus, almost all recognized whole-body chimeras are heterosexual, although one might expect an equal number of isosexual chimeras ascertainment bias.

Cytogenetic studies limited to lymphocytes have sometimes failed to detect more than one line. If additional tissues are studied, the minority cell line is most likely to be detected in gonadal fibroblasts and relatively less likely to be detected in skin fibroblasts. In addition, the proportion of 46,XY cells in lymphocytes bears no ostensible relationship to gonadal status. That is, a relatively high proportion of 46,XY cells in lymphocytes does not necessarily indicate that the gonadal tissue is predominantly testicular, nor, conversely, does a high proportion of 46,XX cells indicate that gonadal tissue is predominantly ovarian.

A female sex of rearing was chosen in only three of 13 cases in one series. The distribution of gonadal tissue is shown in Table 1. No single type predominates.

Although the chromosome constitution of gonadal tissue has been determined in relatively few cases, 46,XY cells appear more likely to be present in a testis or ovotestis than in an ovary. Additional studies, however, are necessary to confirm this hypothesis. There is no obvious explanation for the predilection for testicular development to take place on the right, but it is interesting to note that in many species, the right gonad is vestigial.

Furthermore, following extirpation of the left ovary from newborn hens, the right gonad differentiates into a testis. O, ovary; T, testis; OT, ovotestis.

Birth Defects 14 6C : 9, The ovarian and testicular portions of an ovotestis are usually juxtaposed end-to-end. By definition, both seminiferous tubules and ovarian follicles are present.

Testicular tissue, whether existing as a separate testis or as one component of an ovotestis, is characterized by relatively few normal germ cells. The tubules are usually hyalinized and composed only of Sertoli cells Fig. By contrast, ovarian tissue often contains numerous primordial follicles in various developmental stages. That ovarian tissue is often normal is also evidenced by breast development, cyclic menses, and histologic evidence of ovulation.

However, histologic criteria for diagnosis introduce some biases favoring presence of normal oocytes in true hermaphrodites. The ovarian portion contains not only stroma but also oocytes.

Wiersma found that of cases in South Africa reported in , no patient showed normal male or female external genetalia. Only nine of showed separate urethral and vaginal openings. Paradoxically, breast development was typical at puberty, even with predominantly male external genitalia.

This may have reflected atrophy of testicular tissue due to intraabdominal location. As noted, gonads may consist of two ovotestes; one ovary and one contralateral testis; or one ovotestis and a contralateral ovary or testis.

Gonadal tissue may be located in the ovarian, inguinal, or labioscrotal regions. A testis or an ovotestis is more likely to be present on the right than on the left. Spermatozoa are rarely present; 1 however, ostensibly normal oocytes may exist even in ovotestes. Gonads were palpable in only 59 of the South African cases of Wiersma et al.

In 66 cases, gonads were in the pelvis. Ovotestes are the predominant gonadal form in South Africa and these were almost always pelvic in location. In the series of Wiersma tissue distribution was typically bipolar ovarian cranial and testicular caudal , albeit with interdigitation. The clinical significance of gonadal intermingling is that extirpating gonadal tissue of a single type is not simple surgically. On right side testis was normally descended into the scrotum. True hermaphrodite or ovo-testicular disorder of sexual differentiation OVO-DSD is one of the rarest variety of all inter sex anomalies.

There have been reports of 46 XY karyotype [ 1 ]. In this condition gonads are asymmetrical having both ovarian and testicular differentiation on either sides separately or combined as ovotestis. In ovotestis, testis is always central and ovary polar in location [ 2 ]. Testosterone and Mullerian inhibitory substance MIS are either normal or low. However for final diagnosis there must be histological documentation of both types of gonadal epithelium [ 3 ].

We are reporting this case for the reason of extreme rarity of this disorder of sexual differentiation with 46 XY Karyotyping. This child was reared as male and chief complaint was the absence of left testicle in the scrotum along with passage of urine from an abnormal urethral opening at the junction of penis and scrotum. A surgical procedure was performed at 18 months of age to straighten the penis and few injections testosterone were given to increase the size of penis, although no record was available.

On examination left testicle was not palpable in the scrotum or inguinal canal. Right testicle was palpable in the scrotum and was of adequate size according to the age of child. Phallus examination showed scar mark on the ventral surface of penis and meatal opening was present at penoscrotal junction. Penis was about 4 cm long with 1. All routine investigations were within normal range. Testosterone level was 2. Barr body test was negative. Karyotyping was 46 XY. Ultrasound report showed left undescended testis which was not visible in inguinal canal or abdomen.

No Mullerian structures were noted. A diagnosis of left undescended testis UDT with penoscrotal hypospadias was made. Abdominal exploration for UDT revealed Mullerian structures ovary, unicornuate uterus, fallopian tube and cervix on left side Fig. On the other hand cases of intersexuality androgyny , there being no complete male and no complete female or both sexes having certain features and organs belonging to each other, have been recognized. True hermaphrodites are geographically more prevalent in Africa [ 2 ].

The gonads in a true hermaphrodite are asymmetrical having both ovarian and testicular differentiation on either side separately or combined as an ovotestis.

In an ovotestis, the testis is always central and ovary polar in location [ 1 ]. True hermaphrodites usually present in early childhood with ambiguous genitalia, although presentation in early adulthood is not rare.

Late diagnosis of true hermaphrodites may have a severe psychological impact on the patient, hence making early detection and treatment essential [ 3 ]. Our case involves a year-old gentleman who presented with testicular pain and a suspicious gonad on the left side. A year-old gentleman presented in with right testicular pain. On examination the patient was a phenotypically developed male with normal external male genitalia.

His past medical history included recurrent left hypospadias and bilateral mammoplasty. He underwent bilateral testicular exploration during which the right testicle was found to have abnormal features and was biopsied. Histologically there was no malignancy but the seminiferous tubules showed Sertoli cell only syndrome Figure 1. Two years later the patient presented with a 2-day history of left dull hemiscrotal ache. On examination a rubbery hard large left testicle was palpated. In view of suspected neoplastic growth an ultrasound was done.

This showed an atrophic right testicle and an avascular left testicle. The ultrasound was repeated and confirmed a necrotic left testicle. In view of these findings and the probability of malignancy the patient underwent radical left orchidectomy.

The histology of the left gonad showed proper cycling ovarian parenchymal tissue with primary and secondary follicles, a corpus luteum, and several corpora albicantia.

Other sections showed mature fallopian tube tissue. A second solid nodular mass attached to the gonad was in fact a functional small uterus Figures 2 — 5. A rudimentary epididymis was noted Figure 3 , but seminiferous tubules were not present in this gonad. Hormonal tests revealed an FSH level of The diagnosis of a true hermaphrodite depends on the histologic confirmation of testicular and ovarian tissue in the same individual [ 1 , 4 ]. Individuals which present with even the slightest of ambiguity in the external genitalia and unilateral or bilateral undescended testicles should be investigated [ 4 ].

The most common combination is ovotestis-ovary, followed by bilateral ovotestis [ 2 ]. True hermaphrodites can be classified according to the position and the histology of the gonads [ 1 ]. The descent and position of the gonad depend on the amount of testicular tissue present [ 5 ].