Susan W. Baker

Gender Change from Female to Male in Classical Congenital Adrenal Hyperplasia

The psychoendocrinology of the development of normal gender identity and its variations is poorly understood. Studies of gender development in individuals born with endocrinologically well-characterized intersex conditions are heuristically valuable for the disaggregation of factors that are acting in concert during normal development. Four 46,XX individuals with classical congenital adrenal hyperplasia (CAH) and atypical gender identity entered a comprehensive research protocol including systematic interviews and self-report inventories on gender role behavior and identity, sexual history, and psychiatric history. Some of the data on gender variables were compared to data from 12 CAH women with the salt-wasting variant (CAH-SW) with female gender identity. The four patients (ages 28, 35, 38, and 30 years) represented three different subtypes of classical early-onset CAH: 21-OH deficiency, simple virilizing (CAH-SV); 21-OH deficiency, salt-wasting (CAH-SW); and 11-beta-OH deficiency. Their medical histories were characterized by delay beyond infancy or lack of surgical feminization of the external genitalia and progressive virilization with inconsistent or absent glucocorticoid replacement therapy. Although three patients had undergone one or more genital surgeries, all had retained at least some orgasmic capacity. In regard to childhood gender-role behavior, the four gender-change patients tended to be more masculine or less feminine than (behaviorally masculinized) CAH-SW controls. All patients were sexually attracted to females only. The process of gender change was gradual and extended well into adulthood. The most plausible factors contributing to cross-gender identity development in these patients appeared to be neither a particular genotype or endocrinotype nor a sex-typing bias on the part of the parents but a combination of a gender-atypical behavioral self-image, a gender-atypical body image, and the development of erotic attraction to women. Implications for psychosocial management are also discussed.

Prenatal androgenization affects gender-related behavior but not gender identity in 5-12-year-old girls with congenital adrenal hyperplasia.

Gender assignment of children with intersexuality and related conditions has recently become highly controversial. On the basis of extensive animal research and a few human case reports, some authors have proposed the putative masculinization of the brain by prenatal hormones—indicated by the degree of genital masculinization—as the decisive criterion of gender assignment and have derived the recommendation that 46,XX newborns with congenital adrenal hyperplasia (CAH) and full genital masculinization should be assigned to the male gender. The purpose of this study was to test in CAH girls of middle childhood the assumption that prenatal androgens determine the development of gender identity. Fifteen girls with CAH (range of genital Prader stage, 2–4/5), 30 control girls, and 16 control boys (age range, 5–12 years) underwent 2 gender-play observation sessions, and a gender identity interview yielding scales of gender confusion/dysphoria. About half a year earlier, mothers had completed 2 questionnaires concerning their childrens gender-related behavior. The results showed that, as expected, CAH girls scored more masculine than control girls on all scales measuring gender-related behavior, with robust effect sizes. By contrast, neither conventionally significant differences nor trends were found on the 3 scales of the gender identity interview. We conclude that prenatal androgenization of 46,XX fetuses leads to marked masculinization of later gender-related behavior, but the absence of any increased gender-identity confusion/dysphoria does not indicate a direct determination of gender identity by prenatal androgens and does not, therefore, support a male gender assignment at birth of the most markedly masculinized girls.

Androgen effects on cognition : congenital adrenal hyperplasia

Cognitive studies of congenital adrenal hyperplasia (CAH) patients have revealed (1) the presence of an IQ advantage in patients, siblings and parents due to socioeconomic status, genetic, hormonal, or other factors; (2) an IQ disadvantage in salt wasters compared with simple virilizers, probably due to early brain damage secondary to salt-wasting crisis; (3) a possibly increased incidence of learning disabilities, particularly in female patients and particularly for calculation abilities, due to disease-related early androgen exposure; and (4) a possible post-pubertal spatial advantage in CAH women, also due to early androgen exposure.

Psychosexual Quality of Life in Adult Intersexuality: The Example of Congenital Adrenal Hyperplasia (CAH)

A fundamental aspect of the quality of life in adolescence and adulthood is psychosexuality. It comprises three interrelated aspects: (1) gender role behavior and gender identity; (2) sexual life, with its four components of sexual orientation, courtship, partner bonding, and genital sexuality; (3) reproduction and parenting. Intersexuality tends to affect all three aspects of psychosexuality. In this chapter, we will use data on the syndrome of classical congenital adrenal hyperplasia (CAH) in 46,XX individuals with 21-hydroxylase deficiency as an illustrative example.