© Georg Thieme Verlag KG Stuttgart · New York
How to Deal with Congenital Disorders of Sex Development in 2008 (DSD)Duhamel Lecture Presented during the 9th European Congress of Paediatric Surgery in Istanbul, June 18–21, 2008
received November 13, 2008
accepted after revision November 13, 2008
05 December 2008 (online)
Advances in the identification of molecular genetic causes of abnormal sex development, together with the heightened awareness of psychological issues, necessitate a reexamination of the nomenclature, which was done in Chicago (International Consensus Conference of ESPE and LWPES 2005). Terms such as “intersex”, “hermaphroditism“ or ”sex reversal” are considered to be scientifically controversial and potentially pejorative for patients.
DSDs are defined by congenital conditions in which the development of the chromosomal, gonadal or anatomic sex is atypical. The psychosexual development is conceptualized into 3 components: gender identity (a person's self image as male or female), gender role (sex-typical behaviour, more related to familial and social pressure) and sexual orientation, which refers to the direction of erotic interest.
Gender dissatisfaction denotes unhappiness with an assigned sex and occurs more frequently in individuals with DSD, but it may not be linked to an error in sex assignment or to surgical management. It is important to emphasize the separability of sex-typical behaviour, sexual orientation, and gender identity. Thus, homosexual orientation relative to the sex in which the person was reared is not an indication of incorrect gender assignment. It is difficult to predict whether gender dissatisfaction in DSD is due to the direct action of genes, prenatal androgen exposure, the degree of genital virilization, the assigned gender, or parental/societal conditioning.
Prenatal androgen exposure is clearly associated with some aspects of psychosexual development as well as other psychological characteristics such as maternal interest and sexual orientation. The action of androgens on the differentiation of the brain and on behaviour is influenced by the timing, dose, type of androgen exposure, and receptor availability. But at present, the structure of the brain as shown by MRI and PET scan is not useful for gender assignment.
It is estimated that congenital DSD occurs in 1 out of 4 500 live births, which is a high incidence. All these newborns will live (except for some cases of mistreated Congenital Adrenal Hyperplasia [CAH]), so DSD represents quite a large population, especially in countries with consanguinity due to an inbreeding population.
The diagnosis of DSD prompts a long-term management strategy that involves first the family and then numerous professionals. We must always keep in mind that these children are not ill, are not emergency patients, and that our management deals more with the whole human being that only with the genital organs.
Gender assignment in newborns should be based on a thorough assessment of the diagnosis, and of family expectations. Considerable progress has been made in understanding the genetic bases of human sexual development, and in approximatively 80 % of cases, a precise diagnosis and, what is more important, a precise prognosis regarding postpubertal abilities is possible.
Theoretically, if an intersex baby is seen at (or before) birth:
DSD 46 XX should be raised as girls as they have a uterus and two ovaries which are likely to result in spontaneous puberty and fertility, even if they are markedly virilized. DSD 46 XY: if the penis is developed, preference should be given to the male sex for rearing. The combination of a male gender identity in the majority of cases, and the potential for fertility (documented in 5 α-reductasis deficiency and some cases of PAIS) should be borne in mind when providing evidence regarding gender assignment.
Among patients with Partial Androgen Insensitivity Syndrome (PAIS) and incomplete gonadal dysgenesis, 25 % of individuals experience dissatisfaction with the sex of rearing, irrespective of whether they were raised as a male or as a female; if the case of testicular dysgenesis presents at birth with a developed uterus and vagina, and if the genitalia are poorly masculinized, a female sex of rearing is preferable. But fertility and sexual function are no longer considered the only goals when dealing with DSD individuals. Adult DSD individuals emphasize that they are healthy human beings, and should not to be reduced to their genitals and capacity for procreation.
Ovotesticular DSD usually presents with an uterus; the ovarian tissue is normal while the testicular tissue is dysgenetic. For these reasons the tendency should be to raise these newborns as girls.
To summarize sex assignment in DSD individuals,
gender assignment must be avoided before expert evaluation of the newborn has been carried out, all individuals should receive a gender assignment, patient and family concerns should be respected and their arguments deserve high consideration: parents may have been informed before birth that their unborn baby is a boy or a girl on the basis of an ultrasound or karyotyping: they will therefore consider that our discourse proposes changing the sex of the child, which is always quite unbearable. The acceptance by the parents (and subsequently by the patient) of a XY genotype in a girl is still very difficult and causes real sorrow. Moreover, in some cultural backgrounds, the male condition is widely preferred, and the parents may not agree with the choice of a female sex of rearing.
As for the question of a change of sex:
in childhood, studies in developmental psychology suggest caution when considering a physician-initiated reassignment when the children are older than 18 months. In adulthood, doctors and psycho-social workers should be very cautious. Atypical gender-role behaviour is more common in adults with DSD than in the general population and should not be taken as an indicator for gender reassignment. We have to constantly keep in mind that it is unrealistic to look for a perfectly normalized result in DSD individuals.
Prof. C. Nihoul-Fékété
Department of Pediatric Surgery
Hôpital des Enfants Malades
149 Rue des Sèvres