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

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Abstract

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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Notes

  1. Full statistical details on ANOVA and t-test results are available from the corresponding author on request.

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Acknowledgments

The project described was supported in part by USPHS Grants HD-38409, RR06020 (GCRC), and by Grant Number U54 RR01-9484 from the National Center for Research Resources (NCRR), a component of the National Institutes of Health (NIH). Its contents are solely the responsibilities of the authors and do not necessarily represent the official views of NCRR or NIH. We thank the study women for their participation in this research and Drs. Sheri Berenbaum and Richard Lippa for making their respective questionnaires available to us. Ms. Rhoda Gruen served as interviewer trainer. Ms. Patricia Connolly assisted in word processing.

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Authors and Affiliations

  1. NYS Psychiatric Institute/Department of Psychiatry, Columbia University, 1051 Riverside Drive, NYSPI Unit 15, New York, 10032, New York, USA

    Heino F. L. Meyer-Bahlburg, Curtis Dolezal & Anke A. Ehrhardt

  2. Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA

    Susan W. Baker & Maria I. New

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  1. Heino F. L. Meyer-Bahlburg
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  2. Curtis Dolezal
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  3. Susan W. Baker
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  4. Anke A. Ehrhardt
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Correspondence to Heino F. L. Meyer-Bahlburg.

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Meyer-Bahlburg, H.F.L., Dolezal, C., Baker, S.W. et al. Gender Development in Women with Congenital Adrenal Hyperplasia as a Function of Disorder Severity. Arch Sex Behav 35, 667–684 (2006). https://doi.org/10.1007/s10508-006-9068-9

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