Original Paper

Archives of Sexual Behavior

, Volume 35, Issue 6, pp 667-684

First online:

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

  • Heino F. L. Meyer-BahlburgAffiliated withNYS Psychiatric Institute/Department of Psychiatry, Columbia University Email author 
  • , Curtis DolezalAffiliated withNYS Psychiatric Institute/Department of Psychiatry, Columbia University
  • , Susan W. BakerAffiliated withDepartment of Pediatrics, Mount Sinai School of Medicine
  • , Anke A. EhrhardtAffiliated withNYS Psychiatric Institute/Department of Psychiatry, Columbia University
  • , Maria I. NewAffiliated withDepartment of Pediatrics, Mount Sinai School of Medicine

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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.

Keywords

Congenital adrenal hyperplasia Gender-related behavior Gender identity Gender dysphoria Androgen effects Disorders of sex development Hermaphroditism