Gender identity development is the result of a complex interaction between genes and environment.[ Cohen-Kettenis2005 Reiner2004 Meyer-Bahlburg2005 Dittmann1990 Reiner1999 Byne2004 Coates2004 ] It is impossible to predict with complete confidence what gender any child will eventually come to identify with.[ Berenbaum2003 Cohen-Bendahan2005 ] Like all other children, children with DSD are given an initial gender assignment as boys or girls. But team members should be aware—and advise parents in relevant instances—that children with certain DSD are more likely than the general population to feel that the gender assignment given to them at birth was incorrect.[ Meyer-Bahlburg2004a Dessens2005 Mazur2005 Crone2002 Reiner1996 ]

Gender assignment is a social and legal process not requiring medical or surgical intervention . (See the section called “Timing of Surgeries” and the section called “Timing of Hormonal Therapy”.) The role of health care professionals in initial gender assignment is to obtain and help interpret test results concerning the etiology and prognosis of the child’s DSD and concerning the status of the child’s anatomy and physiology (e.g., hormone production, hormone receptors, gross anatomy), so as to inform the parents’ decision about gender assignment.

Thus, initial gender assignment (boy or girl) is made by the parents after the parents have been fully informed about the results of tests and what is known about gender identity development in patients with similar conditions. Because the parents will be the primary care givers for the child, and because they are the legal decision-makers for the child, it is critical that their sense of the situation be taken seriously and that they actively participate in the initial gender assignment. The psychiatrist or psychologist on the team may evaluate the care givers in terms of their education, cognitive capacity, coping skills, etc., as relevant to their ability to understand the DSD and to nurture a child with a DSD. Such factors may, in some cases, have bearing on the gender assignment recommended by the team.

On rare occasions, a child with a DSD may approach puberty without having clearly expressed a gender identity. Consider, for example, a child with histologically normal testes, 46,XY, and partial virilization who is being raised as a girl but who is approaching puberty without a clearly expressed gender identity. In such cases, leuprolide (marketed as Lupron) may be used to delay puberty while psychologists and psychiatrists help the child explore feelings and options.

Throughout the provision of services to the family, it is critical that the team is supportive of atypical anatomy and behavior in children with DSD, and that they model this acceptance for family members. Recall that one of the principles of patient-centered care for patients with DSD is what is normal for one patient may not be what counts as normal for other patients. For instance, gender-atypical behavior is not a reason to encourage gender reassignment in the absence of the patient’s desire for gender reassignment.[Meyer-Bahlburg2004a] Flexibility is key to making patients and parents feel valued and accepted; i.e., it is key to reducing a sense of stigma. Parents should not be blamed when children express behavior atypical for their gender assignment. They should be supported in recognizing that each child is unique and lovable in his or her own right.

WHAT DOES THE Y CHROMOSOME MEAN?

A lot of unintended harm happens when people assume a Y chromosome makes a person a boy or man, and the lack of a Y chromosome makes a person a girl or woman. One physician educator had the challenging experience of trying to calm a 23-year old patient who had just been told by a resident that she was “really a man” because he had diagnosed her as having a Y chromosome and Complete Androgen Insensitivity Syndrome. It is true that in typical male development, the SRY gene on the tip of the Y chromosome helps to send the embryo down the masculine pathway. But more than the SRY is needed for sex determination and differentiation; for example, women with CAIS have the SRY gene, but lack androgen receptors. In terms of hormone effects on their bodies (including their brains), women with CAIS have had much less “masculinization” than the average 46,XX woman, because their cells do not respond to androgens. Moreover, the SRY gene can be translocated onto an X chromosome (so that a 46,XX person may develop along a typical masculine pathway), and many of the genes involved in sex differentiation lie on the autosomes, not on the chromosomes (including WT-1 on 11, SOX9 on 17, and SF-1 on 9). Genes involved in sex differentiation can code for atypical proteins and thus intermediate level of function. For these reasons, some professionals now prefer the term “molecular sex” to “chromosomal sex” or “genetic sex.” “Molecular sex” seems to better capture the complexity. And beyond the genes, a person’s sex development can be significantly influenced by environmental factors (including the maternal uterine environment in which the fetus developed). So it is simply incorrect to think that you can tell a person’s sex just by looking at whether he or she has a Y chromosome.