At the completion of this module, the participant will understand the diagnosis and elements of treatment of intersex syndromes and be able to utilize sources of further learning in this area.


In order to reach this goal, the participant will have:


  1. The following conditions can be associated with ambiguous genitalia:
    1. Congenital adrenal hyperplasia
    2. Hypospadias
    3. Androgen insensitivity syndrome
    4. All of the above
  2. Intersex people usually are confused about their gender identity:
    • True
    • False
  3. If an intersex person had early corrective genital surgery, then they will not have emotional problems related to their intersex condition:
    • True
    • False
  4. The sexual orientation of the majority of women with congenital adrenal hyperplasia is:
    1. Homosexual
    2. Heterosexual
    3. Bisexual
    4. Asexual

"Intersex" refers to congenital conditions in which genetic, gonadal, or genital sex is atypical. "Hermaphroditism" and "pseudo-hermaphroditism" are other terms still used to refer to intersex conditions. A consensus group of experts of the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology, in conjunction with intersex activists, recommended a new term "Disorders of Sex Development" (DSD) (Lee et al. 2006). However the term is new and controversial, so the more familiar term "intersex" will be used here.


Upon delivery of a baby, the first medical pronouncement is usually, “It’s a boy,” or “It’s a girl.” Historically, this pronouncement has been based upon the appearance of the child’s external genitalia. However, consider the following case: A child is born whose initial examination shows fused labioscrotal folds without palpable testes and a small, malpositioned phallic tuft at the anal verge. Further studies demonstrate cryptorchidism and a 46XY karyotype leading to the diagnosis of penile agenesis.

The mother is strongly advised by the physicians that her child should be assigned to the female gender and receive prompt feminizing surgery. She uneasily consents and the infant undergoes excision of erectile tissue, orchiectomy, and labioplasty. As instructed, the mother attempts to raise the infant as a girl. Nevertheless, the child begins to demonstrate stereotypical masculine behavior culminating in her insistence, at age four, that she is a boy. The mother changes course and raises the child as a boy, although he now has surgically constructed labia and no phallus. The child is more comfortable with the new gender assignment and at age ten, a new surgical team recommends phalloplasty.

Penile agenesis is one of many intersex conditions in which an individual’s physical development does not follow the standard steps in the pathway from genetic sex to adult gender (Wilson and Reiner 1998). Since the advent of modern genitoplasty in the 1950s, the births of intersex children have been regarded as psychiatric emergencies requiring prompt surgical intervention (New and Levine 1981, Lobe 1987, Rink and Adams 1998). This is because the prevailing model of treatment holds that the influences of nurture outweigh those of nature in establishing gender identity (Money et al 1957, Reiner 1997); however, in order for gender assignment to be successful, it must be made early and unambiguously reinforced. Prompt surgical attention to genital anomalies is viewed as necessary not only to convince the affected child of being truly a boy or a girl, but also to convince the parents whose job it will be to reinforce the gender assignment.

In some intersex syndromes, genital surgeries may be a medical necessity, but often they are done solely for the purposes of gender assignment. In some cases, multiple surgical interventions may be performed throughout childhood to continually modify the appearance, size, and function of external genitalia in accordance with the child’s age and assigned gender (Blizzard 2002). Because construction of female external genitalia yields better cosmetic and functional results compared to construction of male genitalia, the majority of subjects with sexually ambiguous genitalia have been surgically assigned female, regardless of their genetic, gonadal or prenatal hormonal status (Schober 1998).

In the effort to avoid ambiguity in the gender assignment, full disclosure of the intersex status has not always been made to either the parents or the affected children. An unintended and historically unanticipated consequence of this concealment has been an atmosphere of secrecy and shame surrounding intersex conditions. Only in recent years have intersex support groups begun to organize and to criticize these traditional standards of practice (Chase 1998, Dreger 1998). Some intersexed individuals who have been dissatisfied with their treatment under the prevailing model have begun to speak out, precipitating debates about the management of intersex conditions. Consequently, developmental, surgical, psychological, and ethical questions have been raised which are only now beginning to be addressed by the medical community (Daabul and Frader 2001, Diamond and Sigmundson 1997, Dreger 1998, Schober 1998). Each of these issues is briefly addressed.

Developmental Issues

How does gender identity develop? In the 1950s, it was believed that gender appropriate genitalia were essential to reinforce the assigned gender and to allow the development of a stable gender identity (Money et al 1957, Zucker 1999). Half a century later, substantial data suggest that biological influences on gender development may be much stronger than initially imagined (Reiner 1997, Hrabovszky and Hutson 2002). For example, with the exception of those with Complete Androgen Insensitivity Syndrome (CAIS), a significant number of 46,XY intersex individuals who received early feminizing genitoplasty and were reared as girls elect in adolescence or adulthood to reassign themselves as males (Blizzard 2002, Zucker 1999). These clinical outcomes call into question theoretical assumptions about the impact of genital morphology and social rearing on the development of gender identity. While it has been believed that gender could be successfully reassigned up until the age of two when the child can produce a verbal label of the self as a boy or girl (Money et al. 1957, Zucker 1999), more recent evidence suggests that in at least some cases prenatal and very early postnatal hormonal influences imprint the brain in a manner that cannot be overridden by gender of rearing (Hrabovszky and Hutson 2002).

Chinese parents bring their 5 year old child to the intersex clinic. At birth, he was assigned female sex. They have two older girls and had hoped for a boy. Although they thought he was a boy with a small penis, they followed their doctors' advice and raised the child as a girl until at age 4 he was found to have XY sex chromosomes. He also has severely delayed language due to recurrent otitis media and impaired hearing.

Mental health care with the parents should address their past and current feelings about the medical professionals' sex assignment of their child. A thorough diagnostic evaluation should be done in conjunction with an endocrinologist, a urologist, and a human geneticist. A psychiatrist may be the best person to help explain the diagnosis and the implications for future gender identity, as well as the risks and benefits of hormonal or surgical interventions in childhood.

A mental heath practitioner with child development experience should evaluate the child's current gender behavior and identity. Broader issues of language development and socialization should also not be neglected in the face of attention necessarily paid to the intersex condition.

Surgical Issues

Does genital surgery improve quality of life? It is important to note that the benefits of such early genital surgery with regard to quality of life issues has not been adequately assessed by follow-up studies (Dreger 1998). In fact, such studies would be difficult to do because the surgical approach has been so widely instituted that recruiting a non-surgical control might be impossible. Moreover, the common practice of withholding information from patients regarding their intersex status often precludes even their recruitment into follow up studies.

While atypical genitals rarely cause illness or pain, surgery and its associated scarring may cause pain, diminution of sexual pleasure, anorgasmia, and loss of reproductive capacity (Chase 1998, Dreger 1998). Genitoplasty frequently requires multiple procedures throughout childhood and even the best surgical efforts may fail to produce acceptable functional or cosmetic results (Chase 1998, Sotiropoulos 1976, Jones 1976, Azziz 1986, Bailez et al 1992, Schober 1999). For example, vaginoplasty in infancy requires the daily insertion of dilators to prevent stenosis (Krege 2000), and as it is impossible to create an adult vagina in an infant, subsequent lengthening surgeries are often required (Alizai et al 1999, Schober 1998). Finally, surgery is difficult or impossible to reverse if an intersexed individual rejects the assigned gender.

An 18 year old young woman with Congenital Adrenal Hyperplasia presents in the urology clinic. She had undergone clitoral reduction as an infant, but she is concerned that when erotically aroused her clitoris gets erect and is visible. She wonders if she needs further corrective surgery.

A doctor should discuss typical sexual physiological response with this patient to reassure her that clitoral engorgement is normal. She should be helped to feel comfortable talking about her erotic sensation and preferred sexual practices. Does her genital anatomy actually lead to sexual dysfunction or is she mostly self-conscious? Have sexual partners reacted negatively? She should be fully informed about the risk of losing erotic sensation with further clitoral surgery.

Ethical Issues

What ethical issues are raised by the care of intersex infants? In the past, the practice among physicians’ of withholding information has diminished parents’ and children’s participation in consent to treatment. Physicians now agree that it is unethical, except in emergency circumstances, to substitute their judgment for that of patients or their representatives in the selection of treatment. While it is generally agreed that parents have a legal right to determine the nature of their child’s medical care, dissatisfied recipients of childhood surgeries have raised the complex question of whether their parents had an ethical right to consent to irreversible genital/gonadal procedures done for non-medically threatening conditions. The age for recommended treatments varies for different intersex conditions. This inevitably influences the ability of affected individuals to participate in decision-making. Some authors suggest that genital surgery should be withheld until the affected individual is old enough to possess the intellectual capacity to give informed consent (Kipnis and Diamond 1998). They argue that because genitals are concealed by clothing, decisions regarding gender assignment and rearing practices can be made without surgery. Others cite both biological and psychosocial factors to argue that delaying medical or surgical treatment prevents effective establishment of a stable gender identity (Daabul and Frader, 2001; Mayer-Bahlburg et al 1996, Hrabovsky and Hudson 2002). For example, if testes are left in place for as little as six months after birth in an individual assigned as female, androgens acting on the brain may interfere with development of the assigned gender (Hrabovsky and Hudson 2002).

Beyond the issue of who consents is the issue of what constitutes informed consent. Informed consent requires a full disclosure of relevant information, such as physical findings, karyotype, diagnosis, as well as potential risks and benefits of treatment vs. non-treatment. For example, early castration requires subsequent postpubertal hormone replacement therapy which poses its own risks, including elevated rates of cardiovascular disease, cancers (Grimes and Rogerio 2002), and osteoporosis secondary to poor compliance with hormone replacement. Some authors suggest that in order to give informed consent, an individual must be made aware of the lack of scientific agreement on theories of gender development as well as the paucity of outcome studies (Dreger 1997, Ford 2001). Some suggest allowing patients or parents considering surgery the option of meeting with or reading about adult intersexed individuals who have undergone similar procedures (Schober 1998).

Psychological and Psychotherapy Issues

What is the psychological impact of early genital surgery and psychosocial gender assignment? It is often assumed that most intersexed individuals make a good psychological adjustment to their assigned gender. While most intersexed people are not confused or unhappy about their assigned sex, preliminary studies and anecdotal data suggest that the traditional approach to intersex management carries substantial psychological risks which have not been adequately weighed against the potential benefits (Schober 1999).

Some intersex individuals become aware of their genitals as anomalous from an early age. Psychological distress, including shame and isolation, may be provoked by the child’s realization of these anomalies, by ongoing attention to the child’s genitalia during repeated medical visits, or by parents’ and physicians’ silence and inadequate explanations (Dreger 1999). Dissatisfied by inadequate explanations, some adolescent or adult intersex individuals subsequently seek access to their medical records. A feeling of having been betrayed often accompanies the discovery of an intersex condition which has been concealed by physicians and parents. The damaged ability to trust may interfere with the individuals subsequent ability to form personal attachments, lead to estrangement from families, and compromise future therapeutic relationships with medical and mental health professionals (Schober 1999).

Therapists may encounter intersex individuals at any point in their lifespan, but most commonly at birth, in adolescence, and when newly diagnosed in their adult years. Unfortunately, mental health professionals are not included early or often enough in the care of intersex individuals. The psychiatrist needs to work with the family of the intersex newborn. The psychiatrist can help explain to the parents the nature of the intersex condition and the future implications for the child. Later on, it is important not to overlook other mental health issues for the child such as learning disabilities, anxiety disorders, depression, ADHD. Despite careful consideration of all factors in making sex assignment at birth, it may become evident later that this conflicts with core gender identity. In adolescence, especially, issues of gender identity and sexuality may become more salient. Some individuals' intersex conditions may not be diagnosed until adolescence or adulthood because of problems with delayed puberty, sexual dysfunction, and infertility. Many intersex people, especially those who have had early surgical intervention, have issues regarding body image and may postpone the development of intimate relationships. In the past the secrecy around intersex conditions led to feelings of shame, silence, and feelings of betrayal when individuals eventually learned their intersex history. Despite the somatic and physiological challenges, some intersex people make good psychosocial adjustment and are able to have partners, families, and lead productive lives.

A 25 year old Persian woman is referred to you by the urology clinic. She was recently diagnosed with 5-alpha-reductase deficiency. At birth in Iran, she was assigned female sex despite a slightly enlarged clitoris, and parents did not pursue any further medical evaluation. She was a tomboy growing up and always felt there was something wrong with her body and her gender. In college she was very disturbed by her erotic attraction to a female classmate because homosexuality is condemned in Islam. Since learning her diagnosis she believes that the presence of internal testes means that she is really a man. However, she is struggling to come to terms with how to transition to being a male and whether this is compatible with her Moslem faith and her community's values.

Although this patient may have been informed by urologists, internists, and human geneticists about her condition and different possible interventions, her therapist may be the only one to be in a position to fully discuss the impact of the medical condition and treatment possibilities. Therefore, it is essential that the therapist become informed about the specific intersex biology and consult with the patient's other specialists about the urgency of treatments and realistic outcomes for hormonal and surgical interventions. The patient will need support in emotionally adjusting to the diagnosis, choosing between treatment options, building family and community support, and transitioning genders. The patient will be struggling with how to conceptualize her sexuality in relation to dating and long-term relationships. She may also need support in thinking about fertility and future family. The therapist will need to be sensitive to the specific cultural and religious values that make medical care more psychologically complex than most other medical or surgical conditions.


The debates regarding intersex conditions have raised more questions than answers. Recent sets of guidelines for the medical management of these conditions have been proffered (Wilson and Reiner 1998, Diamond and Sigmundson 1997, ISNA 1994), but reflective of the shifting paradigm of intersex management, they are not in accord with each other. In 2006, the Consortium on Disorders of Sex Development (DSD) offered a set of detailed care guidelines and a handbook for parents of children with DSD.

The Group for the Advancement of Psychiatry's Committee on Human Sexuality has made the following general recommendations upon recognition of an intersex condition:

Further research in the following areas is needed:

  1. the biological and social factors that influence gender development
  2. the impact of various medical/surgical/psychosocial interventions on the quality of life of intersex individuals
  3. the mental health needs of intersex patients and their families at all stages of life.

Estimated frequency of intersex conditions


Estimated frequency/100 live births

Turner (X)


Kleinfelter (XXY)


Other non-XX and non-XY


Subtotal for chromosomal causes


Androgen Insensitivity Syndrome


Partial Androgen Insensitivity Syndrome


Classical Congenital Adrenal Hyperplasia (CAH)


Late onset CAH


Subtotal for known hormonal causes


Vaginal agenesis


True hermaphrodites (ovotestes)







1.87 ± 1.105

Adapted from: Dreger (1998) & Blackless (2000)


  1. At the birth of an infant with atypical genitalia:
    1. Doctors should decide on a sex assignment before letting the parents see the infant
    2. Genital plastic surgery should preferably be done shortly after birth so parents are not confused about the child's sex
    3. Mental health professionals should be involved in the treatment team
    4. Parents should be reassured that surgery will prevent the development of homosexuality in the child
  2. XY individuals with complete androgen insensitivity syndrome almost all identify as:
    1. Female
    2. Male
    3. Male to female transsexuals
    4. Between male and female
  3. XY individuals with 5-alpha-reductase deficiency somtimes:
    1. Appear to have male genitalia at birth
    2. Feminize during puberty
    3. Often switch from female to male gender identity in adolescence
    4. Feel like male-to-female transsexuals


Alizai NK, Thomas DF, Lilford RJ, Batchelor AG, Johnson N. 1999. Feminizing genitoplasty for congenital adrenal hyperplasia: what happens at puberty? J Urol ; 161:1588-1591.

Azziz R, Mulaikal RM, Migeon CJ, Jones HW, Rock JA. 1986. Congenital adrenal hyperplasia: long term results following vaginal reconstruction. Fertil Steril ; 46:1011.

Bailez MM, Gearhart JP, Migeon C, Rock J. 1992. Vaginal reconstruction after initial construction of the external genitalia in girls with salt-wasting adrenal hyperplasia. J Urol 148:680.

Blackless M, Charuvastra A, Derryck A, Fausto-Sterling A, Lauzanne K, and Lee E. 2000. How sexually dimorphic are we? Review and synthesis. American Journal of Human Biology 12:151-166.

Blizzard RM. 2002. Intersex issues: a series of continuing conundrums. Pediatrics 110:616-21.

Chase C. 1998. Surgical progress is not the answer to intersexuality. J Clin Ethics 9:385-392.

Daabul J and Frader J. 2001. Ethics and the management of the patient with intersex: a middle way. J Pediatr Endocrinol Metab 14:1575-1583.

Diamond M, Sigmundson HK. 1997. Management of intersexuality: guidelines for dealing with persons with ambiguous genitalia. Arch Pediatr Adolesc Med 151:1046-1050.

Dreger A. 1998. “Ambiguous sex”--or ambivalent medicine? Ethical issues in the treatment of intersexuality. Hastings Center Report May-June:24-35.

Dreger AD. 1999. Intersex In the Age of Ethics. University Publishing Group, Hagerstown, MD .

Grimes DA, Rogerio A. 2000. Perspectives on the women's health initiative trial of hormone replacement therapy. Obst Gynecol 100:1344-53.

Hrabovszky Z, Hutson JM. 2002. Androgen imprinting of the brain in animal models and humans with intersex disorders: review and recommendations. J Urol 168:2142-2148.

Jones HW, Garcia SC, Klingensmith GJ: Secondary surgical treatment of the masculinized external genitalia of patients with virilizing adrenal hyperplasia. Obst Gynec 1976; 48:73.

Kipnis K, Diamond M. 1998. Pediatric ethics and the surgical assignment of sex. J Clin Ethics ; 9:398-410.

Krege S, Walz KH, Hauffa BP, Korner I, Rubben H. 2000. Long-term follow-up of female patients with congenital adrenal hyperplasia from 21-hydroxylase deficiency, with special emphasis on the results of vaginoplasty. BJU International 86:253-259.

Lee PA, Houk CP, Ahmed SF, et al. (2006). Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 118(2): e488-500.

Lobe TE, Woodall, DL, et al. 1987. The complications of surgery for intersex: changing patterns over two decades. J. Pediatr Surg ; 22:651-652.

Meyer-Bahlberg HFL, Gruen RS, New MI, Bell JJ, Morishima A, Shimshi M, Bueno Y, Vargas I, Baker SW. 1996. Gender change from female to male in classical congenital adrenal hyperplasia. Hormones Res 30:319-332.

Money J, Hampson JG, Hampson JL. 1957. Imprinting and the establishment of gender role. Arch Neurol Psychia 77:333-336.

New ML, Levine LS. 1981. Adrenal hyperplasia in intersex states. Pediatr & Adolesc. Enocrinol 8:51-64.

Reiner WG. 1997. To be male or female--that is the question. Arch Pediatr Adolesc Med 151:224-225.

Rink RC, Adams MC. 1998. Feminizing genitoplasy: state of the art. World J Urol ; 16:212-18.

Rosario VA, ed. 2006. Intersexuality, special issue of J Gay Lesbian Psychotherapy 10.

Schober JM. 1998. A surgeon’s response to the intersex controversy. J Clin Ethics 9:393-397.

Schober JM. 1998. Feminizing genitoplasty for intersex, in Pediatric Surgery, Urology: Long-Term Outcomes. Edited by Stringer, Oldham, Moriquand. London, WB Saunders Co Ltd, 549-558.

Schober JM. 1999. Quality-of life studies in patients with ambiguous genitalia. World J Urol 17:249-252.

Sotiropoulos A, Morishima A, Yomsy Y, Lattimer JK. 1976. Long-term assessment of genital reconstruction in female pseudohermaphrodites. J Urol 115:599.

Wilson BE, Reiner WG. 2000. Management of intersex: a shifting paradigm. J Clin Ethics 9:360-369.

Zucker KJ: Intersexuality and gender identity differentiation. Ann Rev of Sex Research 1999;10:1-69.

Internet Resources: