A Practical Approach to Intersex

M. David Bomalaski


Urol Nurs. 2005;25(1):11-18, 23-24. 

In This Article

Modern Controversy

Medical science has advanced to where we have a greater understanding of the biochemical pathways that lead to intersex and we often have the surgical expertise to physically produce either male or female gender based on the parents' and physicians' best judgments. What must be stressed is that the gender we chose for the infant may not be the gender he or she chooses for him or herself. Science is still ignorant of many of the psychological factors that determine gender identity. Some studies have indicated a psychosexual development that is congruent with gender, such as female psychosexual identity in female pseudohermaphrodites with congenital adrenal hyperplasia (Hines, 2004). Other studies have pointed out that many factors are involved in sexual identity beyond chromosomal makeup (Diamond, 2004). Many of these factors may involve early imprinting of the brain based on hormonal exposure. This, taken in consideration with changes in societal acceptance and expectations, have led many physicians, parents, and patients to delay surgical reconstruction until the patient is of an age to be part of the decision process.

The Internet is a fantastic tool for distributing information. However, often it is unfiltered information, which may be emotionally biased. A Internet search using the Google search engine revealed 94,700 different hits for the term "intersex," with the top three sites being the Intersex Society of North America, the United Kingdom Intersex Society, and the Intersex Support Group International. The opening statement on the Intersex Society of North America's Web site is, "The Intersex Society of North America (ISNA) is devoted to systemic change to end shame, secrecy, and unwanted genital surgeries for people born with an anatomy that someone decided is not standard for male or female." Popular media and trial lawyers have latched onto the controversies of intersex surgery. Both the television program 60 Minutes and the magazine Newsweek have presented stories of patients as adults with gender dissatisfaction. Gender assignment is a tough decision and some now advocate that no decision be made. Anyone who chooses to deal with these patients must realize that many factors go into the decision to perform surgery. The ideal outcome, a patient with a healthy self-esteem and a satisfied gender assignment, cannot be known in the infant period. Some would argue that the patients themselves should decide when they reach an age of appropriate understanding. However, this ignores the reality of societal pressures that segregate expectations, social structures, and peer pressure along gender lines. Clearly it is not an easy decision, but one in which pediatric urologists, pediatricians, and potentially mental health professionals attempt to provide guidance to the parents towards the child's well-being.

Case 1 is an 18-month-old female brought in by the parents with the complaint of new onset of pubic hair. She was the product of a normal, term pregnancy with no remarkable prenatal events. With the exception of the pubic hair, she is without physical complaints and has a negative past medical history. The family mentioned that a cousin had died in infancy of unknown causes. Her physical finding is seen in Figures 3a-d. Remarkable findings include pubic hair, an enlarged, prominent clitoris, and fusion of the labia minora along the midline. There were no palpable gonads, and cystoscopy reveals a normal appearing cervix. Pelvic ultrasound shows a normal-appearing uterus and ovaries. Renal ultrasound is remarkable for bilaterally enlarged adrenal glands. Her serum electrolytes are within normal limits. Urinary and serum 17-hydroxyprogesterone are markedly elevated. The patient is diagnosed with 21hydroxylase deficiency and congenital adrenal hyperplasia without salt wasting. She is started on cortisol replacement and undergoes feminizing genitoplasty.

Case Study 1. 3a: 18-month-old female with pubic hair growth. 3b: Phallic examination shows a 2.0 cm long phallus with increased girth. 3c: Fusion of the labia minora in the mid-line with a solitary introital opening. 3d: Cystoscopic examination shows a short common urogenital channel, a normal urethra, bladder neck and bladder, and a normal vagina and cervix.

Figures 4a-b shows a newborn child, the product of a term pregnancy without complications and negative family history, born with what appears to be a 3 cm phallus with perineal hypospadias. Penoscrotal transposition is noted and the gonads are bilaterally nonpalpable. Examination shows what appears to be a right inguinal hernia. Serum cortisol and precursor levels are all within normal limits. Karyotype shows 46XY, but is SRY antigen negative.

Case Study 2 shows a newborn infant with a 3 cm perineal level hypospadiac phallus and bilaterally nonpalpable gonads but a right inguinal hernia.

Pelvic sonography appears to show bilateral gonads at the level of the internal inguinal ring. There appears to be a vagina and uterus on sonography. Figure 5 shows the results of the genitogram. The perineal opening is catheterized and contrast injected. A common urogenital channel is seen with bifurcation into an urethral/bladder channel and what appears to be a vagina. This finding is confirmed on cystoscopy, which shows a common channel branching into a normal urethra, bladder neck, and bladder. The second channel is a vagina with a normal appearing cervix. Initial serum testosterone levels are low but there is a marked elevation of testosterone levels in response to human chorionic gonadotropin, indicating active testicular tissue.

Genitogram shows a common urogenital channel, which bifurcated into a urethra and vagina.

Figure 6 shows the results of pelvic exploration. On the right side, gonadal biopsy shows testicular tissue fused with dyplastic ovarian tissue (ovotestis). On the left, ovarian tissue appropriate for age is encountered. The diagnosis of true hermaphrodite is made with the decision to pursue a female gender assignment based on future fertility potential, endocrine considerations, as well as genital functionality. She undergoes removal of the right ovotestis, clitoral recession, and vaginoplasty.

Pelvic exploration of the right groin shows testicular tissue fused with dyplastic ovarian tissue (an ovotestis). Left-sided exploration and biopsy showed ovarian tissue appropriate for age.


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