Carl Cohen
05-13-04, 01:43 AM
Medicine and the Same Sex Marriage Debate
Carl I. Cohen, M.D.
Professor of Psychiatry
SUNY Downstate Medical Center
cohen_c@<hidden>
Does medicine have a contribution to make in the debate about a constitutional amendment banning same sex marriages? I believe that medicine can advance the debate by providing a reasoned and nuanced discussion of the definition of gender. The proposed constitutional amendment banning same sex marriages rests on the assumption that gender is unambiguously divided into male and female. However, various studies have found that up to 2% of live births— as many as 80,000 annual births-- deviate from the standard definitions of chromosomal, genital, gonadal dimorphism(1, 2). This standard or ideal view presumes that males have one X and one Y chromosome, testes located in a scrotum, and a penis with an enclosed urethra that opens at the tip. Females are presumed to have two X chromosomes, functional ovaries, uterus, vagina, and a clitoris. In the about the 6th week of gestation, the developing embryo’s genital cells differentiate in the male direction if there is a Y chromosome present(3). If there is no Y chromosome present, differentiation occurs in the female direction. However, due to genetic programming, faulty development, or abnormal physical or hormonal influences, the developing fetus may not conform to the standards of “normal” gender.
At the chromosomal level a wide array of genetic patterns are possible. For example, instead of XY there are males with XXY, XXYY, XXXY, XXXXY, and XYY(1, 3 ). Abnormal testicular tissue, gynecomastia, smaller penises, and fewer secondary male characteristics such as facial hair accompany many of these patterns. However, many 47XXY and 47 XYY males are undiagnosed and manifest no symptoms(4). Among females, there are some who have only one X chromosome, those who have three, and others who have a mosaic of one X mixed with XX (1,3 ). These women have abnormal ovarian tissue, absence of breasts, and other lack other secondary female characteristics. Then, there are true genetic hermaphrodites with a mosaic of XX and XY chromosomes and who may have both ovaries and testes. Finally, there is the paradoxical case of XX males, who seemingly have the chromosomal composition of females, but who have penises and scrotum, albeit with abnormal testicular tissue. It is postulated that in about four-fifths of these persons a submicroscopic particle of the sex-determining region of the Y chromosome is translocated onto the paternal X chromosome(5). Cases of 47,XXX males have also been reported(3).
Even when chromosome composition is of the typical variety, deviations from standard gender anatomy may occur. The most rare form is “true hermaphroditism,” in which the persons have both testicular and ovarian tissue. However, more common varieties are called “pseudo-hermaphroditism.” In these instances, the person has gonadal tissue of one sex, but there is ambiguity about the genitalia. Abnormalities range from hypospadias or an enlarged clitoris, to cases in which gender is difficult to assign. The most common type in females is congenital adrenal hyperplasia( 6), which occurs in several forms. Baby girls typically have enlarged genitalia that make sexual assignment problematic. In males, testicular feminization syndrome occurs due to androgen insensitivity or absence of androgen receptors. Presentations include infants with female external genitalia, blind vaginas, no uterus, testes that are hidden in the abdomen or inguinal canal, or masculine phenotypes with azoopermia and elevated levels of luteinizing hormone(3). At puberty, they may develop breasts with little pubic or axillary hair. Although they are genetically male, these persons are usually raised as females. Other rare forms of partial androgen insensivity exist, e.g., Reifenstein Syndrome(1, 3).Finally, genital ambiguity may occur in persons with multiple malformation syndromes(3).
Last, there are persons who have normal chromosomal and anatomical make-up and yet their gender does not conform to standards. This includes a range of “transgender” persons who are clinically identified as “Gender Identity Disorder”(7). Its prevalence is estimated at one per 30,000 in males and one per 100,000 in females(7). These persons have a strong and persistent cross-gender identification, which is the desire to be, or the insistence that one is, of the other sex. Accompanying this desire is a persistent discomfort with his or her gender. To varying degrees, these persons adopt the behavior, dress, and mannerisms of the other sex.
Thus, a closer examination of gender at the chromosomal, anatomical, and psychological levels reveals the problems of a dichotomous classification. It is increasingly recognized that gender is best described as a bimodal continuum, with two large groups comprising standard males and females overlapping with a smaller group of intersex persons(1, 2). If gender cannot be easily categorized, it will make a constitutional amendment about sex and marriage illusory. The medical field has an obligation to clarify this issue for policy makers and the general public.
References
1. Blackless M, Charuvastra A, Derryck A, Fausto-Sterling A, Lauzanne K, Lee E. How sexually dimorphic are we? Review and Synthesis. American Journal of Human Biology 2000; 12: 151-166.
2.Dreger AD. “Ambiguous sex”-- or ambivalent medicine? The Hastings Center Report 1998; 28(3):24-35.
3. Simpson JL, Elias S. Genetics in obstetrics and gynecology. Third edition. Philadelphia: Saunders, 2003.
4. Abramsky L, Chapple J. 47, XXY (Klinefelter’s syndrome) and 47, XXY: estimated rates of and indication for postnatal diagnosis for prenatal counseling. Prenatal Diagnosis 1997; 17: 363-368.
5. Lopez M, Torres L, Mendez JP, Cervantes A, Perez-Palacios G, Erickson RP, Alfaro G, Kofman-Alfaro S. Clinical and molecular findings in 46, XX males. Clinical Genetics 1995; 48:29-34.
6.Laue L, Rennert OM. Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment. Adv Pediatr 1995; 42: 113-143.
7.American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Revised Fourth Edition. Washington, DC: American Psychiatric Association, 1994.
Carl I. Cohen, M.D.
Professor of Psychiatry
SUNY Downstate Medical Center
cohen_c@<hidden>
Does medicine have a contribution to make in the debate about a constitutional amendment banning same sex marriages? I believe that medicine can advance the debate by providing a reasoned and nuanced discussion of the definition of gender. The proposed constitutional amendment banning same sex marriages rests on the assumption that gender is unambiguously divided into male and female. However, various studies have found that up to 2% of live births— as many as 80,000 annual births-- deviate from the standard definitions of chromosomal, genital, gonadal dimorphism(1, 2). This standard or ideal view presumes that males have one X and one Y chromosome, testes located in a scrotum, and a penis with an enclosed urethra that opens at the tip. Females are presumed to have two X chromosomes, functional ovaries, uterus, vagina, and a clitoris. In the about the 6th week of gestation, the developing embryo’s genital cells differentiate in the male direction if there is a Y chromosome present(3). If there is no Y chromosome present, differentiation occurs in the female direction. However, due to genetic programming, faulty development, or abnormal physical or hormonal influences, the developing fetus may not conform to the standards of “normal” gender.
At the chromosomal level a wide array of genetic patterns are possible. For example, instead of XY there are males with XXY, XXYY, XXXY, XXXXY, and XYY(1, 3 ). Abnormal testicular tissue, gynecomastia, smaller penises, and fewer secondary male characteristics such as facial hair accompany many of these patterns. However, many 47XXY and 47 XYY males are undiagnosed and manifest no symptoms(4). Among females, there are some who have only one X chromosome, those who have three, and others who have a mosaic of one X mixed with XX (1,3 ). These women have abnormal ovarian tissue, absence of breasts, and other lack other secondary female characteristics. Then, there are true genetic hermaphrodites with a mosaic of XX and XY chromosomes and who may have both ovaries and testes. Finally, there is the paradoxical case of XX males, who seemingly have the chromosomal composition of females, but who have penises and scrotum, albeit with abnormal testicular tissue. It is postulated that in about four-fifths of these persons a submicroscopic particle of the sex-determining region of the Y chromosome is translocated onto the paternal X chromosome(5). Cases of 47,XXX males have also been reported(3).
Even when chromosome composition is of the typical variety, deviations from standard gender anatomy may occur. The most rare form is “true hermaphroditism,” in which the persons have both testicular and ovarian tissue. However, more common varieties are called “pseudo-hermaphroditism.” In these instances, the person has gonadal tissue of one sex, but there is ambiguity about the genitalia. Abnormalities range from hypospadias or an enlarged clitoris, to cases in which gender is difficult to assign. The most common type in females is congenital adrenal hyperplasia( 6), which occurs in several forms. Baby girls typically have enlarged genitalia that make sexual assignment problematic. In males, testicular feminization syndrome occurs due to androgen insensitivity or absence of androgen receptors. Presentations include infants with female external genitalia, blind vaginas, no uterus, testes that are hidden in the abdomen or inguinal canal, or masculine phenotypes with azoopermia and elevated levels of luteinizing hormone(3). At puberty, they may develop breasts with little pubic or axillary hair. Although they are genetically male, these persons are usually raised as females. Other rare forms of partial androgen insensivity exist, e.g., Reifenstein Syndrome(1, 3).Finally, genital ambiguity may occur in persons with multiple malformation syndromes(3).
Last, there are persons who have normal chromosomal and anatomical make-up and yet their gender does not conform to standards. This includes a range of “transgender” persons who are clinically identified as “Gender Identity Disorder”(7). Its prevalence is estimated at one per 30,000 in males and one per 100,000 in females(7). These persons have a strong and persistent cross-gender identification, which is the desire to be, or the insistence that one is, of the other sex. Accompanying this desire is a persistent discomfort with his or her gender. To varying degrees, these persons adopt the behavior, dress, and mannerisms of the other sex.
Thus, a closer examination of gender at the chromosomal, anatomical, and psychological levels reveals the problems of a dichotomous classification. It is increasingly recognized that gender is best described as a bimodal continuum, with two large groups comprising standard males and females overlapping with a smaller group of intersex persons(1, 2). If gender cannot be easily categorized, it will make a constitutional amendment about sex and marriage illusory. The medical field has an obligation to clarify this issue for policy makers and the general public.
References
1. Blackless M, Charuvastra A, Derryck A, Fausto-Sterling A, Lauzanne K, Lee E. How sexually dimorphic are we? Review and Synthesis. American Journal of Human Biology 2000; 12: 151-166.
2.Dreger AD. “Ambiguous sex”-- or ambivalent medicine? The Hastings Center Report 1998; 28(3):24-35.
3. Simpson JL, Elias S. Genetics in obstetrics and gynecology. Third edition. Philadelphia: Saunders, 2003.
4. Abramsky L, Chapple J. 47, XXY (Klinefelter’s syndrome) and 47, XXY: estimated rates of and indication for postnatal diagnosis for prenatal counseling. Prenatal Diagnosis 1997; 17: 363-368.
5. Lopez M, Torres L, Mendez JP, Cervantes A, Perez-Palacios G, Erickson RP, Alfaro G, Kofman-Alfaro S. Clinical and molecular findings in 46, XX males. Clinical Genetics 1995; 48:29-34.
6.Laue L, Rennert OM. Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment. Adv Pediatr 1995; 42: 113-143.
7.American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Revised Fourth Edition. Washington, DC: American Psychiatric Association, 1994.