Hermaphroditism

True Hermaphrodite: A Case Report
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In humans, conditions that involve discrepancies between external genitalia and internal reproductive organs are described by the term intersex. Intersex conditions are sometimes also referred to as disorders of sexual development DSDs. Such conditions are extremely rare in humans. In true gonadal intersex or true hermaphroditism , an individual has both ovarian and testicular tissue. The ovarian and testicular tissue may be separate, or the two may be combined in what is called an ovotestis.

Affected individuals have sex chromosomes showing male-female mosaicism where one individual possesses both the male XY and female XX chromosome pairs. Most often, but not always, the chromosome complement is 46,XX, and in every such individual there also exists evidence of Y chromosomal material on one of the autosomes any of the 22 pairs of chromosomes other than the sex chromosomes.

Individuals with a 46,XX chromosome complement usually have ambiguous external genitalia with a sizable phallus and are therefore often reared as males. However, they develop breasts during puberty and menstruate and in only rare cases actually produce sperm. In 46,XX intersex female pseudohermaphroditism , individuals have male external genitalia but the chromosomal constitution and reproductive organs of a female. In 46,XY male pseudohermaphroditism , individuals have ambiguous or female external genitalia but the chromosomal constitution and reproductive organs of a male, though the testes may be malformed or absent.

INTRODUCTION

In biology, a hermaphrodite is an organism that has complete or partial reproductive organs Hermaphroditism is also found in some fish species and to a lesser degree in other vertebrates. Most plants are also hermaphrodites. Historically. True hermaphroditism, clinically known as ovotesticular disorder of sex development, is a medical term for an intersex condition in which an individual is born.

Treatment of intersex in humans depends upon the age at which the diagnosis is made. Historically, if diagnosed at birth, the choice of sex was made typically by parents based on the condition of the external genitalia i. The remaining genitalia were then reconstructed to resemble those of the chosen sex. The reconstruction of female genitalia was more readily performed than the reconstruction of male genitalia, so ambiguous individuals often were made to be female.

Hermaphrodite

However, intersex surgery has long-term consequences for affected individuals. Later in life, for example, the person may not be satisfied with the results of surgery and may not identify with the assigned gender. Thus, patient consent has become an increasingly important part of decisions about intersex surgery, such that surgery may be delayed until adolescence or adulthood, after patients have had sufficient time to consider their gender and are able to make informed decisions about treatment. In older individuals the accepted gender may be reinforced by the appropriate surgical procedures and by hormonal therapy.

INTRODUCTION

Blaustein's pathology of the female genital tract. This list is not FDA-approved. You can make it easier for us to review and, hopefully, publish your contribution by keeping a few points in mind. Help us improve this article! Most hermaphroditic species exhibit some degree of self-fertilization. A rise in testosterone level indicates the presence of functioning Leydig cells. Retrieved 16 June

We welcome suggested improvements to any of our articles. You can make it easier for us to review and, hopefully, publish your contribution by keeping a few points in mind. Case 5. Mixed gonadal dysgenesis. A, testicular compartment has histological features similar to those of true hermaphrodite; the number of germ cells arrow is increased in a case with abundant edematous interstitium compared with in the cases that have compact tubules.

B, the stroma of the differentiated testis imperceptibly merges into the adjacent dysgenetic gonadal tissue left half , where germ cell and stromal cell components form primitive cordlike structures in the ovarian-type stroma; primordial or growing follicles are not identified.

Sex-cordlike components in mixed gonadal dysgenesis. A, trabeculae or cordlike structures consisting of an intimate mixture of primitive germ cells and stromal cells mimic features of gonadoblastoma Case 5. B, sex-cordlike structures composed only of stromal cells are reminiscent of those in adult granulosa cell tumor or Sertoli cell tumor Case 6.

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C, only a few germ cells arrow are identified in the sex-cordlike structures, and these are associated with many scattered lymphoid aggregates. D, streak gonad is almost exclusively composed of ovarian-type stroma and rare foci of atrophic sex-cordlike structures arrow.

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First, a bilateral gonadectomy is recommended as soon as possible in all individuals with MGD containing Y-chromosome material. In TH, however, only the removal of the opposite gonad from the assigned gender and a biopsy of remaining gonadal tissue for histological evaluation may be appropriate. Second, gender assignment is critical for the treatment of patients of TH because these patients usually do not possess any other developmental malformations, and thus normal sexual and reproductive functions can be achieved by proper management and sex assignment at a young age 4.

In contrast, it is important that bilateral gonadectomies be performed in patients with MGD before the patient reaches puberty, not only to prevent the development of malignant tumors but also to avoid virilization if the patient is to be raised as female. In the three patients with MGD in our study, however, contralateral differentiated gonads have been preserved under close clinical follow-up until the patients' puberty so that they can be raised as male.

Third, certain medical problems, such as deficient immunoglobulin levels, aberrant bony development of inner ear structures, and cardiovascular and renal anomalies, are more common in MGD patients than in TH patients; therefore, patients with MGD should receive more medical attention 1 , 3. For a differential diagnosis, chromosomal constitutions are not helpful. The pathogenesis of TH and MGD still remains unclear, but recent study shows that sex determination is not from a simple hierarchical cascade of gene action but from a complex network of gene expression and protein-protein interaction in which SRY, SOX9, WT1, and SF1 are involved 13 , In cases of 46,XX true hermaphroditism, mosaicism with a Y-bearing cell line at low level 15 or partial inactivation of the Y-bearing X chromosome that was formed during paternal meiosis 16 , 17 have been suggested to explain the mechanism of abnormal sexual development.

In cases of MGD, mutations in SRY genes were usually absent 18 ; however the cytogenetic mosaicism, mutation in the genes downstream of SRY, and unpaired or incompletely paired X chromosome have been proposed as a mechanism to cause defective formation of the follicular mantle and degeneration of oocytes Approximately , primordial follicles, each containing a primary oocyte, are embedded in the stroma of the normal ovarian cortex at birth, and oogonia or primordial germ cells are usually absent 20 , Therefore, the presence of numerous primordial follicles containing primary oocytes with or without maturing follicles is considered well-developed ovarian tissue when making a definitive diagnosis of TH after birth and the finding of rare primordial follicles is insufficient to call it ovarian tissue.

More mature follicular structures, such as primary or antral follicle, can be identified, but those are not absolutely required for the diagnosis of TH. Primitive sex-cordlike structures with many primordial germ cells after birth should not be confused with well-developed ovarian tissue, even if they are embedded in the ovarian-type stroma. It is noteworthy that five of six cases with MGD in our study showed either gonadoblastoma-like or sex-cord stromal tumor-like areas.

Numerous germ cell components were intimately admixed with sex-cordlike elements in the former, whereas most of the germ cell components were eliminated in the latter. Scattered lymphoid aggregates with a rare germ cell component within the ovarian-type stroma in a case Case 9 raised the possibility of an immune mechanism involved in the degenerative process forming a streak gonad.

Hermaphroditism

The number of primordial germ cells varies depending on the age of the patient at the time of histological diagnosis, and virtually none are detectable at the time of puberty 2. Therefore, we thought that the germ cells migrated to the genital ridge and that then, accelerated atresia of primordial germ cells and sex-cord stromal cells occurred to form streak gonad during the prenatal or early postnatal period. Gonadoblastoma was named as such because it appeared to recapitulate gonadal development more completely than any other type of tumor However, the size of the gonadoblastoma-like or granulosa cell tumor-like areas in our cases was too small to diagnose as such, and they did not exhibit mitotic activity.

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Furthermore, those structures showed sequential changes of degeneration of the germ cells and sex-cord stromal cells in the ovarian-type stroma Fig. On the other hand, secretion of the testicular hormone is inhibited by the negative feedback effect of ovarian steroids through the inhibition of gonadotropin 4. In our study, the testicular compartments of patients with TH were those of normal prepubertal immature testes and were indistinguishable from those of patients with MGD Fig. However, as patients get older, the testicular compartments in TH patients show more frequent abnormalities, such as tubular atrophy, poor germ cell development, Leydig cell hyperplasia, and sclerosis, because the pituitary gonadotropins can be suppressed by the negative feedback effect of ovarian steroids secreted by ovarian compartment 4 , 6 and because these are the major regulators of spermatogenesis in human testes.

Clinically, the presence of functional testicular tissue can be determined with the use of an hCG stimulation test in an adult. A rise in testosterone level indicates the presence of functioning Leydig cells. However, in young children, the test may not reflect the function of normal testicular tissue because of the poorly developed Leydig cells in the interstitium in both conditions. In our study, hCG stimulation tests were performed in 6 of 10 patients three TH and three MGD patients , but only one patient with TH showed an elevated testosterone level, suggesting the presence of functioning Leydig cells.

The nature of the internal or external genitalia does not form the basis of a differential diagnosis between TH and MGD. In conclusion, the differentiation between TH and MGD is largely dependent on the histological appearances of the gonads. Clinical features, such as cytogenetic results, hormonal profiles, and internal duct systems do not appear to be useful in a differential diagnosis.

Therefore, thorough examination of all the resected or biopsied gonadal tissue and the application of strict histological criteria for defining ovarian tissue, the presence of numerous primordial or maturing follicles containing primary oocytes when making a definitive diagnosis of TH after birth are important for the differentiation between the two conditions. Ovarian agenesis and dysgenesis.

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Reproductive endocrinology, surgery, and technology. Philadelphia: Lippincott-Raven; Tumors of the ovary, maldeveloped gonads, fallopian tube, and broad ligament. Atlas of tumor pathology. Washington, D.

References

Embryology of the female genital tract and disorders of abnormal sexual development. In: Kurman RJ, editor. Blaustein's pathology of the female genital tract. New York: Springer; True hermaphroditism. True hermaphroditism: an analytic review with a report of 3 new cases. Am J Obstet Gynecol ; : — The gonads of human true hermaphrodites. Hum Genet ; 58 : — True hermaphroditism: clinical aspects and molecular studies in 16 cases.

Eur J Endocrinol ; : — Fertility in true hermaphroditism. Adolesc Pediatr Gynecol ; 1 : 55— Congenital disorders of sexual differentiation: MR findings. American journal of roentgenology. Ultrasonographic appearance of fallopian tube and ovotestis in a true hermaphrodite. True hermaphroditism and normal male external genitalia: a rare presentation. Pubmed 6. True hermaphroditism in a phenotypic male without ambiguous genitalia: an unusual presentation at puberty.

True hermaphroditism: sonographic demonstration of ovotestes. Case report: ultrasonographic appearance of ovotestes in a true hermaphrodite. Pubmed 9.

Pires, A. De Moura Poli, S. Zanforlin Filho, R. Mattar, A. Moron, A. Debs Diniz. True hermaphroditism—the importance of ultrasonic assessment. Promoted articles advertising. Edit article Share article View revision history Report problem with Article. URL of Article. Article information.