Gender Development in Women with Congenital Adrenal Hyperplasia as a Function of Disorder Severity

NYS Psychiatric Institute/Department of Psychiatry, Columbia University, 1051 Riverside Drive, NYSPI Unit 15, New York, New York 10032, USA.
Archives of Sexual Behavior (Impact Factor: 3.53). 01/2007; 35(6):667-84. DOI: 10.1007/s10508-006-9068-9
Source: PubMed


Prenatal-onset classical congenital adrenal hyperplasia (CAH) in 46,XX individuals is associated with variable masculinization/defeminization of the genitalia and of behavior, presumably both due to excess prenatal androgen production. The purpose of the current study was threefold: (1) to extend the gender-behavioral investigation to the mildest subtype of 46,XX CAH, the non-classical (NC) variant, (2) to replicate previous findings on moderate and severe variants of 46,XX CAH using a battery of diversely constructed assessment instruments, and (3) to evaluate the utility of the chosen assessment instruments for this area of work. We studied 63 women with classical CAH (42 with the salt wasting [SW] and 21 with the simple virilizing [SV] variant), 82 women with the NC variant, and 24 related non-CAH sisters and female cousins as controls (COS). NC women showed a few signs of gender shifts in the expected direction, SV women were intermediate, and SW women most severely affected. In terms of gender identity, two SW women were gender-dysphoric, and a third had changed to male in adulthood. All others identified as women. We conclude that behavioral masculinization/defeminization is pronounced in SW-CAH women, slight but still clearly demonstrable in SV women, and probable, but still in need of replication in NC women. There continues a need for improved instruments for gender assessment.

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    • "For the majority of the adult women with CAH, gender identity was clearly female, and gender dysphoria seems to be very rare. Thus, prenatal androgenization affects typically gender-related behavior and not gender identity.[32] In addition, most of these patients report a heterosexual orientation, but there is an increased rate of homosexual and bisexual orientation compared with unaffected women. "
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    ABSTRACT: Fertility in women with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) appears to be reduced, especially in women with the classic salt-wasting type. Several factors have been suggested to contribute to this subfertility such as androgen excess, adrenal progesterone hypersecretion, consequences of genital reconstructive surgery, secondary polycystic ovaries syndrome, and psychosexual factors. In contrast to this subfertility, pregnancies are commonly normal and uneventful. Adequate glucocorticoid therapy and improvement of surgical and psychological management could contribute to optimize fertility in CAH female patients, even among women with the classic variant. This review provides current information regarding the reproductive outcomes of women with CAH due to 21-OHD and the fertility and pregnancy issues in this population.
    No preview · Article · Mar 2013
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    • "Unlike GI, GR appears to be more heavily influenced by early hormone exposure than learning or socialization [85, 86]. Most studies of GR in people with DSD have focused on girls and women with 46,XX DSD due to the condition congenital adrenal hyperplasia (CAH) [87–90]. Relatively few investigations of GR have been conducted in people affected by 46,XY DSD. "
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    ABSTRACT: Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD, provide important opportunities to study gender within individuals for whom biologic components of sex can be discordant with social components of gender. While most studies of gender development in people with 46,XY DSD have historically emphasized the importance of genes and hormones on gender identity and gender role, more recent evidence for a significant role for socialization exists and is considered here. For example, the influence of parents' perceptions of, and reactions to, DSD are considered. Additionally, the impact of treatments for DSD such as receiving gonadal surgeries or genitoplasty to reduce genital ambiguity on the psychological development of people with 46,XY DSD is presented. Finally, the role of multi-disciplinary care including access to peer support for advancing medical, surgical and psychosexual outcomes of children and adults with 46,XY DSD, regardless of sex of rearing, is discussed.
    Full-text · Article · Sep 2012
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    • "CAH women produce larger than normal female amounts of prenatal androgens, sometimes even approaching male levels (Meyer-Bahlburg et al, 2006). These women have been repeatedly shown to express unusually high interests in male-typical occupations (Berenbaum, 1999; Servin et al, 2003; Meyer-Bahlburg, et al. 2006). CAH females also exhibit higher than normal female rates of lesbianism (Meyer-Bahlburg et al, 2008). "
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    ABSTRACT: Gender and sexual orientation are both associated with occupational interests. In general, the interests of homosexual males (relative to heterosexual males) resemble those of heterosexual females. To a lesser extent, homosexual females express occupational preferences gravitating toward those of heterosexual males rather than heterosexual females. The present study was undertaken to explore theoretical explanations for this three-variable relationship. Two theories were considered: social role theory and evolutionary neuroandrogenic (ENA) theory. While both theories lead to the expectation of gender differences in occupational interests, only ENA theory went on to predict that sexual orientation would also be associated with occupational interests. Evidence supporting these predictions was found, prompting us to test ENA theory more deeply by examining how various androgen-promoted physical traits -e.g., muscularity, physical strength, and low-deep voice - are related to occupational interests and sexual orientation. Again, consistent with theoretical expectations, in both males and females, most androgen-promoted physical traits were positively correlated with male-typical occupational interests and male-typical sexual orientation, especially for males. Overall, this study supports the view that testosterone and other androgens influence the relationships between, gender, sexual orientation, and occupational interests.
    Full-text · Article · Sep 2012 · The mankind quarterly
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