Middlesex

PRELIMINARY STUDY:

GENETIC XY (MALE) RAISED AS FEMALE

The following illustrative case indicates that there is no preordained correspondence between genetic and genital structure, or between masculine or feminine behavior and chromosomal status.

SUBJECT: Calliope Stephanides

INTERVIEWER: Peter Luce, M.D.

INTRODUCTORY DATA: The patient is fourteen years old. She has lived as a female all her life. At birth, somatic appearance was of a penis so small as to appear to be a clitoris. The subject’s XY karyotype was not discovered until puberty, when she began to virilize. The girl’s parents at first refused to believe the doctor who delivered the news and subsequently asked for two other opinions before coming to the Gender Identity Clinic and New York Hospital Clinic.

During examination, undescended testes could be palpated. The “penis” was slightly hypospadiac, with the urethra opening on the underside. The girl has always sat to urinate like other girls. Blood tests confirmed an XY chromosomal status. In addition, blood tests revealed that the subject was suffering from 5-alpha-reductase deficiency syndrome. An exploratory laparotomy was not performed.

A family photograph (see case file) shows her at age twelve. She appears to be a happy, healthy girl with no visible signs of tomboyishness, despite her XY karyotype.

FIRST IMPRESSION: The subject’s facial expression, though somewhat stern at times, is overall pleasant and receptive, with frequent smiling. The subject often casts her eyes downward in a modest or coy manner. She is feminine in her movements and gestures, and the slight gracelessness of her walk is in keeping with females of her generation. Though due to her height some people may find the subject’s gender at first glance somewhat indeterminate, any prolonged observation would result in a decision that she was indeed a girl. Her voice, in fact, has a soft, breathy quality. She inclines her head to listen when another person speaks and does not hold forth or assert her opinions in a bullying manner characteristic of males. She often makes humorous remarks.

FAMILY: The girl’s parents are fairly typical Midwesterners of the World War II generation. The father identifies himself as a Republican. The mother is a friendly, intelligent, and caring person, perhaps slightly prone to depression or neurosis. She accedes to the subservient wifely role typical of women of her generation. The father only came to the Clinic twice, citing business obligations, but from those two meetings it is apparent that he is a dominating presence, a “self-made” man and former naval officer. In addition, the subject has been raised in the Greek Orthodox tradition, with its strongly sex-defined roles. In general the parents seem assimilationist and very “all-American” in their outlook, but the presence of this deeper ethnic identity should not be overlooked.

SEXUAL FUNCTION: The subject reports engaging in childhood sexual play with other children, in every case of which she acted as the feminine partner, usually pulling up her dress and letting a boy simulate coition atop her. She experienced pleasurable erotosexual sensations by positioning herself by the water jets of a neighbor’s swimming pool. She masturbated frequently from a young age.

The subject has had no serious boyfriends, but this may be due to her attending an all-girls school or from a feeling of shame about her body. The subject is aware of the abnormal appearance of her genitalia and has gone to great lengths in the locker room and other communal dressing areas to avoid being seen naked. Nevertheless, she reports having had sexual intercourse, one time only, with the brother of her best friend, an experience she found painful but which was successful from the point of view of teenage romantic exploration.

INTERVIEW: The subject spoke in rapid bursts, clearly and articulately but with the occasional breathlessness associated with anxiety. Speech patterning and characteristics appeared to be feminine in terms of oscillation of pitch and direct eye contact. She expresses sexual interest in males exclusively.

CONCLUSION: In speech, mannerisms, and dress, the subject manifests a feminine gender identity and role, despite a contrary chromosomal status.

It is clear by this that sex of rearing, rather than genetic determinants, plays a greater role in the establishment of gender identity.

As the girl’s gender identity was firmly established as female at the time her condition was discovered, a decision to implement feminizing surgery along with corresponding hormonal treatments seems correct. To leave the genitals as they are today would expose her to all manner of humiliation. Though it is possible that the surgery may result in partial or total loss of erotosexual sensation, sexual pleasure is only one factor in a happy life. The ability to marry and pass as a normal woman in society are also important goals, both of which will not be possible without feminizing surgery and hormone treatment. Also, it is hoped that new methods of surgery will minimize the effects of erotosexual dysfunction brought about by surgeries in the past, when feminizing surgery was in its infancy.