Review of Outcome Information in 46,XX Patients with Congenital Adrenal Hyperplasia Assigned/Reared Male: What Does It Say about Gender Assignment?

Peter A Lee,Christopher P Houk

doi:10.1155/2010/982025

Abstract

There is ample historical verification of 46,XX congenital adrenal hyperplasia (CAH) patients being born with essentially male genitaliawhile outcome information is scant. Prior to glucocorticoid therapy, most patients died very young from adrenal insufficiency. Most available reports from laterchildhood, contain little information concerning sexual identity. Reports on older individuals lack adequate information about sexual identity and quality of life. The difficulty in assessing the relative impact of multiple dynamic environmental factors on the development of sexual identity, self- and body esteem and overall adjustment to life is clear. Nevertheless, it remains unclear whether those infants whose masculine genitalia at birth resulted in an initial male assignment would have enjoyed a better adult outcome had they been allowed to remain male rather than the female reassignment that most received. Further, one could ask whether a male sex of rearing should be considered in 46,XX CAH infants with male external genitalia. After reviewing available literature, we conclude that because those extremely virlized 46,XX CAH patients who were reared male with healthy social support demonstrated satisfactory levels of social and sexual function as adults a male sex assignment should be considered in these types of infants when social and cultural environment are supportive.

Highlights

The virilizing forms of 21-hydroxylase and 11-hydroxylase deficiency congenital adrenal hyperplasia (CAH) manifest a complete spectrum of virilization in 46,XX individuals ranging from none to complete virilization such that in rare cases the external genitalia are entirely male with absent testes
One could ask whether a male sex of rearing should be considered in 46,XX CAH infants with male external genitalia
The virilizing forms of 21-hydroxylase and 11-hydroxylase deficiency CAH manifest a complete spectrum of virilization in 46,XX individuals ranging from none to complete virilization such that in rare cases the external genitalia are entirely male with absent testes

Summary

Background

The virilizing forms of 21-hydroxylase and 11-hydroxylase deficiency CAH manifest a complete spectrum of virilization in 46,XX individuals ranging from none to complete virilization such that in rare cases the external genitalia are entirely male with absent testes. This report described 12 adult 46,XX CAH males, all of whom have a male gender identity and were sexually attracted to females, 10 of whom had always been reared male, as well as a group of four 46,XX infants whose parents chose a male sex assignment (after full disclosure) even after the diagnosis of CAH in the neonatal period. It was during the preparation of the paper about the 12 adult CAH males [6] that we found extensive literature regarding other similar patients and decided to prepare this review. This literature review included searching for information on severely virilized 46,XX CAH patients on PubMed, general internet, and traditional library searches, old and current endocrinology textbooks, followed by locating references of earlier publications cited in located publications

Literature Review

Review of Recommendation for Gender Assignment

Small Series of Outcome Information

Reports Vary by Age and Completeness of Assessment