Gender and Sexuality: Issues Surrounding Ambiguous Genitalia in Neonates

Introduction

The often tragic gender and sexuality issues surrounding the treatment of neonates born with ambiguous genitalia may, with advances in endocrinology, soon be a thing of the past. This is welcome news to physicians who treat these children, to parents who care for them, and to a society that often does not understand them. At the present time, the potential for error in assessment and treatment planning is still present and only a thorough understanding of all of the currently known issues surrounding this anomaly can ensure the best possible outcome for neonates born with ambiguous genitalia.

Normal Sexual Differentiation

In order to understand the issues surrounding congenital malformations of the genitalia, it is necessary first to understand the steps involved in the normal development of sexual differentiation (Migeon, & Wisniewski, 2002). Genetically, the fetus develops from the combination of a 23 X chromosome from its mother and either a 23 X or 23 Y chromosome from its father. A 46 XX fetus is supposed to develop into a female and a 46 XY into a male. By six weeks of life, homeodomain proteins and nuclear receptor proteins should have caused the development of rudimentary undifferentiated external genitalia that will eventually provide a support system for the final development of sexually specific external genitalia that are a match to the genetic sexual identity of the fetus. Between six weeks and twelve to fourteen weeks of age, the gonadal sex of the fetus is established through the development of either the testes or ovaries. The next step involved the gonadal production of hormones, androgen and Müllerian inhibiting substance, along with a number of enzymes. The production of androgen results in the external genitalia developing as male. The production of Müllerian inhibiting substance results in the external genitalia developing as female. By the end of the first trimester, additional enzyme production results in the complete formation of the urinary tracts and external genitalia of both males and females.

When Things Go Wrong

Since the sexual development of the fetus must be successful across all five of the steps to normal sexual differentiation, there is ample opportunity for things to go awry. According to Migeon and Wisniewski (2002), in these cases, the most common types include:

1. Intersexed individuals who have a 46 XY karyotype, but the testes are either not present or are significantly reduced in size;
2. Intersexed individuals who have a 46 XX karyotype, and do have ovaries, but produce abnormally high levels of androgen
3. True hermaphrodites, who have both ovarian and testicular differentiation, and can have karyotypes that are either 46 XX or 46 YY, or can also have some other abnormal combination of chromosomes.

In all of these cases, the only way to identify the actual sexual differentiation of the neonate is through karyotype analysis.

Degree of Seriousness

In the past, infants who were born with abnormal genitalia were considered to have a birth defect, but not necessarily to be what could be defined as ill. Modern endocrinology techniques are now able to show that most of these children are, indeed, suffering from a whole host of metabolic disorders, some of which act directly on the production of the hormones, proteins, and enzymes necessary for normal sexual differentiation to occur. The most life threatening of these metabolic disorders is Congenital adrenal hyperplasia, which results in not only abnormal production of enzymes, but also in salt loss sufficient to cause the masculinization of females. In extreme cases, congenital adrenal hyperplasia is life threatening and, in even a best case scenario, if improperly treated, can cause reduced estrogen production in the adult lives of the females who do survive (Migeon, & Wisniewski, 2002). In some cases, the development of abnormal genitalia is caused by drugs ingested by the mother during her pregnancy, but most of the incidents of abnormal genitalia are caused either simply by genetic accident or by a metabolic disorder.

Clinical Evaluation

Since infants born with ambiguous genitalia often suffer from severe metabolic disorders, it is vital that a clinical evaluation is conducted as soon as possible after birth (Migeon, & Wisniewski, 2002). In those infants who suffer from the metabolic disorders, the loss of salt can cause life threatening dehydration through vomiting and diarrhea. Documentation of the anomalies associated with the external genitalia should be conducted, as well as MRIs of the internal urethral and gonadal structures. Fluids and electrolytes should be monitored continuously. An analysis of the neonate's karyotype, along with hormone studies can assist the physician in determining what sex the neonate was destined to be.

Once the extent of the abnormality of the genitalia is known, and the analysis of the karyotype of the neonate has been established, it is then time to determine with which sex the child will be reared. At this stage, counseling should be provided to the parents and they should be the ones to make the decision, if any, for their child. The sexual assignment made for the neonate is made on the basis of the gender suggested by the karyotype (Migeon, Wisniewski, & Gearhart, 2001). It is recommended that the surgery to correct the external abnormalities of the genitalia be completed before the infant is two years of age. Females will need additional vaginal surgery when they are ready to begin their sexual lives, and males may need additional surgery, as adolescents, to straighten the penis. Counseling and patient education are recommended for the parents of neonates born with abnormal genitalia.

Psychological and Social Issues

There are currently two schools of thought, with regard to the immediate surgical sexual assignment of neonates born with abnormal genitalia. The first group insists that an immediate comprehensive evaluation be done, and that surgery to restore the neonate to the form of genitalia matching their karyotype should be conducted as quickly as possible, and within the first two months of life, if possible (Donahoe, & Schnitzer, 1996). The need for early treatment by a multidisciplinary team is emphasized because of the common occurrence of metabolic disorders that often accompany the presence of abnormal genitalia.

The second school of thought, concerning how and when neonates born with abnormal genitalia should be carried out, comes, predominantly, from those involved in the psychological treatment of the child and family. Some mental health professionals cite the case of the Canadian boy, unsuccessfully raised as a girl, who eventually had his surgery reversed (Diamond, 1997). As a result of that case, and several others, a significant number of mental health professionals began to lobby the medical profession to forestall surgical assignment for neonates born with abnormal genitalia until the patient is old enough to decide for themselves which gender with which they feel most comfortable because, they claim, that surgical treatment is not medically necessary at birth. This is a naive and overly simplistic approach to the treatment of neonates born with abnormal genitalia. There are serious physical issues related to this phenomenon. These structures are not only present for the purpose of gender identity. These structures are closely associated with the success of the bladder and urinary tract. They are involved in the production and/or suppression of a number of hormones, enzymes, and salts that can have life threatening consequences if not addressed as quickly as possible. In the case of a true hermaphrodite, it may be possible to take a wait and see posture. However, in other cases, a multidisciplinary team of individuals who are specialists in reconstructive surgery, endocrinology, and neurology, as well as psychology, is vital to the success of the treatment that must be unique to each of the neonates born with ambiguous genitalia (Donahoe, & Schnitzer, 1996).

According to Kraemer (2000), males born with abnormal genitalia are at greater risk for psychological problems in later life than are females born with abnormal genitalia. In speaking to the fragility of males throughout their lifetime, Kraemer (2000), notes that males are more likely to be born with a number of birth defects, syndromes, and abnormalities than are females. In addition, because of some of the XYO abnormalities, particularly the XO chromosome combination found in those with Turner's Syndrome, these males will, almost inevitably, go on to develop significant difficulties with social cognition and social interaction.

Congenital Anomaly vs. Traumatic Injury

An objective reading of available research uncovers the fact that the warring schools of thought about how and when to introduce surgical and hormonal treatment into the overall treatment plan for any individual with abnormal genitalia, may not, in many instances, be talking about the same set of circumstances. When children with abnormal genitalia are separated into groups by the manner in which their genitalia became abnormal, a clearer picture begins to develop.

Some children are born with abnormal genitalia, which is usually a symptom of some underlying metabolic or hormonal disorder (Migeon, & Wisniewski, 2002). Other children have abnormal genitalia as a result of trauma. It is not the surgery that restores ambiguous genitalia into alignment with chromosomal gender identity that is the real problem between health care professionals. Instead, it is the surgical gender reassignment performed on children whose genitals have been irreparably traumatized that has caused so many problems over the past three decades.

The work of John Money created serious problems in this area because his unethical manipulation of data and patient lives produced work that defined the entire field of sexual reassignment (Diamond, 1996). Money believed that nurture would win out over nature and founded what amounted to almost a dynasty of thinking that followed his lead. It is only in recent years that others medical and mental health professionals have been able to begin to separate the groups of individuals with abnormal genitalia into their better defined groups, where the definitions of their conditions are more appropriately defined and where treatments specific to their needs can be addressed.

A one-size-fits-all decision making process, concerning sexual reassignment, has been further discredited by recent studies at Johns Hopkins University (Schaffhausen, 2004). In this follow-up study, a group of 16 individuals were interviewed. All 16 were born genetically and hormonally male, but with an extraordinarily small or nonexistent penis. Fourteen 14 had been surgically reassigned as females. When interviewed, all 16 enjoyed traditionally male pursuits and 8 of the 14 who were surgically reassigned as females had declared themselves to be male. Only one of these children played with dolls and most of the 14 who were surgically reassigned as females had refused to wear female clothes. Therefore, it has been concluded that the appearance of genitalia is not the criteria that should be used to determine gender, a fact that has long been recognized by endocrinologists and neurologists.

Parental Decision-Making

Regardless of the assessments made by medical and mental health professionals, it is, in the final analysis, up to the parents to make a decision about how their infant will be treated. Having a baby born with ambiguous genitalia is a very serious stressor. Parents want their baby fixed and whole, and find it difficult to wade through all of the confusing information they are being given. The situation is made all the more stressful if the medical and mental health professionals do not agree on what should be done and when; or if the medical team seems to have already made up its mind about what should be done, regardless of the parents' wishes (American Academy of Pediatrics, 2000). Toward easing the burden placed on parents, many of the larger university hospitals are creating gender committees, such as the one at Johns Hopkins Hospital (Schaffhausen, 2004). These committees are well versed in all of the technical issues surrounding neonates born with ambiguous genitalia. They are aware that surgery and hormone therapy alone are not enough to set things to right. These infants must also have the receptors necessary to accept the hormone therapy that will return them to agreement with their gender, as defined by their chromosomes. If there is a problem with the neonate being unable to be physically restored to their genetic gender, then the gender committee has the resources to determine whether these children should be sexually reassigned or whether they should be simply supported until they are old enough to make the decision for themselves. This seems to be the far more responsible and ethical way to treat this issue when physicians and hospitals are caught between parents who want the situation to come to an immediate conclusion and transgender groups who are publicly defining their treatment as mutilation.

Time is often the greatest enemy of parental decision-making under these circumstances. The endocrinologists and physicians have a window of only about five days in which to complete their assessments and make their recommendations (Migeon, & Wisniewski, 2002). That amount of time can seem like an eternity to the parents of a neonate born with ambiguous genitalia. Yet, a hospital that has a well planned plan of action, under such circumstances, can assist parents to understand their infant's situation and make as informed a decision as possible. Parents who feel as if they are part of the treatment team will, ultimately, handle not only better handle the immediate needs of their infant, but will also be better able to raise their infant, should continuing care be a necessity (American Academy of Pediatrics, 2000).

Conclusion

Current thinking, among medical and mental health professionals does indicate that the arbitrary sexual reassignment of individuals, at any age, is problematic, at the very least. Many pediatricians still believe that neonates are psychologically gender neutral at birth and, thus, sex can be reassigned, if it is done before the age of two (Diamond, 1997). However, advances in endocrinology show that this is not the case and that the metabolic and neurological workup is crucial in making any decision concerning the surgical sexual assignment or reassignment of any neonate. Older individuals, it is agreed, should be allowed to make their own decisions about their preferred gender, and whether or not they should subject themselves to such surgery (Migeon, & Wisniewski, 2002). In all cases, parents should be included, as part of the multidisciplinary decision-making team, that will decide the final treatment protocol for each neonate born with ambiguous genitalia. Continued research into this congenital anomaly, including its causes and its management, are expected to produce dramatically improved means and methods of providing these children and their families with an improved quality of life, both in their personal lives and in their place in society as a whole.

References

American Academy of Pediatrics. (2000). Evaluation of the newborn with developmental anomalies of the external genitalia. Pediatrics, 106(1), 138 - 142.

Diamond, M. (1997). Sexual identity and sexual orientation in children with traumatized or ambiguous genitalia. Journal of Sex Research. Retrieved: October 10, 2004, from: http://www.findarticles.com/p/articles/mi_m2372/is_n2_v34/ai_19551973

Donahoe, P.K., & Schnitzer, J.J. (1996). Evaluation of the infant who has ambiguous genitalia, and principles of operative management. Seminars in Pediatric Surgery, 5(1), 30 - 40.

Kramer, S. (2000, Dec. 23). The fragile male. British Medical Journal, 321, 1609 - 1612. Retrieved: October 12, 2004, from: http://bmj.bmjjournals.com/cgi/content/full/321/7276/1609?maxtoshow=&HITS=10&hits=10&RESULTFORMAT=&fulltext=abnormal+genitalia&andorexactfulltext=
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Migeon, C.J., Wisniewski, A.B., & Gearhart, J.P. (2001). Syndromes of abnormal sex differentiation: A guide for patients. Retrieved: October 12, 2004, from: http://www.hopkinsmedicine.org/pediatricendocrinology/index.html

Migeon, C.J., & Wisniewski, A.B. (2002, March 11). Ambiguous genitalia in the newborn. Chapter 10. Endotext. Retrieved: October 12, 2004, from: http://www.endotext.org/pediatrics/pediatrics10/pediatricsframe10.htm

Schaffhausen, J. (2004, Jan. 26). Our sexual identity has little to do with sex organs, researchers find. ABC News. Retrieved: October 10, 2004, from: http://www.geocities.com/KarenSpecial/abcgenderbender.html