TRUE HERMAPHRODITISM

Overview: Disorders of sexual development (DSD), formerly termed intersex conditions, reflect the chromosomal sex or the gonadal tissue associated with the disorder. Intersex individuals display genetic, and sometimes physical, signs of both male and female sexes.

True hermaphroditism is a medical term for an intersex condition in which an individual is born with ovarian and testicular tissue.

There may be an ovary underneath each testicle on the other, but more commonly one or both gonads is an ovotestis containing both types of tissue.

There are no documented cases in which both types of gonadal tissue function.

Characteristic/Phenotype: In this condition gonads are asymmetrical having both ovarian and testicular differentiation on either sides separately or combined as ovotestis. Ovotestes are the most frequent gonad present (60%), followed by the ovary and then the testis (9%). 90% of cases, patients have 46 XX karyotype. Other encountered karyotypes are 47XXY, 46XX/46XY, or 46XX/47XXY, and various degrees of mosaicism.

Frequency: Ovotesticular disorder of sexual development is a rare condition. Genital ambiguity occurs in 1 in 4,500 births, and ovotesticular disorder of sexual development occurs in fewer than 10% of all disorders of sexual development. More than 400 cases have been reported worldwide.

Diagnosis: A thorough physical examination is mandatory.

Newborn period: When faced with the delivery of an infant with genital ambiguity, the physician must determine if the newborn is a virilized female, an undermasculinized male, or a rare person with ovotesticular disorder of sexual development. Physical examination should focus on the following considerations: genetic stigmata, skin pigmentation, and genital examination

Pubertal period: Aside from the physical examination findings discussed in the newborn section, pay special attention to the following: sexual hair distribution, presence of uterus and vagina, phallus length, labioscrotal fusion, and breast development.

Cytogenetic investigation with hormonal evaluation and study of androgen target cells must also be done as laboratory tests. An amniocentesis following prenatal ultrasonography showing ambiguous genitalia may reveal a 46,XX, 46,XX/46,XY or 46,XX/47,XXY karyotype, providing a hint to the diagnosis.

Causes: It can be caused by the division of one ovum, followed by fertilization of each haploid ovum and fusion of the two zygotes early in development.

• Alternately, an ovum can be fertilized by two sperm followed by trisomic rescue in one or more daughter cells.
• Two ova fertilized by two sperm will occasionally fuse to form a tetragametic chimera. If one male zygote and one female zygote fuse, a hermaphroditic individual may result.
• It can be associated with mutation in the SRY gene.

Treatment/Recommendations/Therapies: Sex hormone replacement might be required for those with pubertal delay.

Most patients with genital ambiguity require surgical exploration for diagnostic confirmation and removal of contradictory gonadal tissue. Surgery has sometimes been performed to alter the appearance of the genitals.

Because of the complexities surrounding gender assignment/reassignment, use of an experienced team is the best approach. Many patients have expressed the sentiment that decisions concerning surgery on the external genitalia should not be made without the understanding and consent of the affected person. Because of the complexity and ramifications of this decision, the clinician must approach the issue in concert with the family in a compassionate and thoughtful manner.

All should be comfortable with the gender assignment decision, which depends on the diagnostic evaluation results. Gender assignment in the newborn period should be based on the individual's potential for normal sexual function and the potential for future reproductive function.

Identity and self-esteem issues in the adolescent age group make psychological support of utmost importance in case gender reassignment surgery is decided.

Support Groups:

Hermaphroditism Support Group

http://www.mdjunction.com/hermaphroditism

I am a True Hermaphrodite

http://www.experienceproject.com/groups/Am-A-True-Hermaphrodite/140456

References:

Iqbal, M et al. (2011). True Hermaphrodite: A Case Report. Retrieved March 12, 2013 from the URL: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3418019/

Hutcheson, J. (2012) Ambiguous genitalia and Intersexuality. Retrieved March 12, 2013 from the URL: http://emedicine.medscape.com/article/1015520-overview

Dayal, M. (2012). Ovotesticular Disorder for Sexual Development. Retrieved March 12, 2013 from the URL: http://emedicine.medscape.com/article/256289-overview

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