Pseudohermaphroditism
Overview
Pseudohermaphroditism is a group of conditions where there is a discrepancy between the external genitals and the internal genitals (the testes and ovaries). The older term for this condition, hermaphroditism, came from joining the names of a Greek god and goddess, Hermes and Aphrodite. Hermes was a god of male sexuality (among other things) and Aphrodite a goddess of female sexuality, love, and beauty. Although the older terms are still included in this article for reference, they have been replaced by most experts (and patients and families) because they are misleading, confusing, and insensitive. Increasingly this group of conditions is being called disorders of sex development (DSDs).
Symptoms
* Ambiguous genitalia at birth * Micropenis * Clitoromegaly (an enlarged clitoris) * Partial labial fusion * Apparently undescended testes (which may turn out to be ovaries) in boys * Labial or inguinal (groin) masses -- which may turn out to be testes -- in girls * Hypospadias (the opening of the penis is somewhere other than at the tip; in females, the urethra [urine canal] opens into the vagina) * Otherwise unusual appearing genitalia at birth * Electrolyte abnormalities * Delayed or absent puberty * Unexpected changes at puberty
Diagnosis
* Chromosome analysis * Hormone levels (for example, testosterone level) * Hormone stimulation tests * Electrolyte tests * Specific molecular testing * Endoscopic examination (to verify the absence or presence of a vagina or cervix) * Ultrasound or MRI to evaluate whether internal sex organs are present (for example, a uterus)
Prognosis
Please see information on the individual conditions. The prognosis depends on the specific cause of intersex. With understanding, support, and appropriate treatment, overall outlook is excellent.
Treatment
Ideally, a team of health care professionals with expertise in intersex should work together to understand and treat the child with intersex -- and to understand, counsel, and support the entire family. Parents should understand controversies and changes in treating intersex in recent years. In the past, the prevailing opinion was that it was generally best to assign a gender as quickly as possible, often based on the external genitals rather than the chromosomal gender, and to instruct the parents to have no ambiguity in their minds as to the gender of the child. Prompt surgery was often recommended. Ovarian or testicular tissue from the other gender would be removed. In general, it was considered easier to reconstruct female genitalia than functioning male genitalia, so if the "correct" choice was not clear, the child was often assigned to be a girl. More recently, the opinion of many experts has shifted. Greater respect for the complexities of female sexual functioning has led them to conclude that suboptimal female genitalia may not be inherently better than suboptimal male genitalia, even if the reconstruction is "easier." In addition, other factors may be more important in gender satisfaction than functioning external genitals. Chromosomal, neural, hormonal, psychological, and behavioral factors can all influence gender identity. Many experts now urge delaying definitive surgery for as long as healthy, and ideally involving the child in the gender decision. Clearly, intersex is a complex issue, and its treatment has short- and long-term consequences. The best answer will depend on many factors, including the specific cause of the intersex. It is best to take the time to understand the issues before rushing into a decision. An intersex support group may help acquaint families with the latest research, and may provide a community of other families, children, and adult individuals who have faced the same issues.
Resources
Alternative Names Disorders of sex development; DSDs;Intersex ; Hermaphroditism; Hermaphrodite