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

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.

A values-driven and evidence-based health care psychology for diverse sex development

“…There are increasing numbers of XY children with ambiguous genitalia being assigned male, and a recent report suggests that male gender assignment is a viable option for XX individuals with congenital adrenal hyperplasia (CAH; Lee & Houk, 2010). Consistent long-term therapeutic follow-ups for these families fulfil a clinical need and offer opportunities for participatory action research (PAR) to improve our knowledge of experiences of families who resist the standard approach of female gender assignment and feminising surgery.…”

A 68-Year-Old Phenotypically Male Patient with 21-Hydroxylase Deficiency and Concomitant Adrenocortical Neoplasm Producing Testosterone and Cortisol

“…Among the patients with CAH, complete virilization, such as the male external genitalia with absent testis, is wellknown but actually rare and almost all (~95%) 46, XX CAH infants develop a female phenotype (Lee and Houk 2010). However, the present patient was apparently male and the sexual identity of this particular patient had been male for the last 67 years.…”

“…In addition, the patients with 21OHD are associated with marked proliferation of the zonae fasciculate and reticularis especially in untreated conditions with excessive adrenocorticotropic hormone (ACTH) levels, but rarely developed adrenocortical carcinoma, except for a few cases of classical 21OHD (Hamwi et al 1957;Bauman and Bauman 1982;Jaursch-Hancke et al 1988). Virilized 46, XX classical 21OHD patients are rarely raised as male (Lee and Houk 2010).…”

Leydig Cell Tumour in a 46,XX Child with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

“…In defining sexual identity in patients with DSD, one should consider not only the karyotype and anatomical structures but also the social, cultural, intrauterine exposure to androgens and the possibility of fertility [17]. Lee and Houk [18] studied phenotypic male CAH patients with the 46,XX karyotype and concluded that these patients had appropriate levels of social and sexual satisfaction. Our patient presented behaviour consistent with the gender of rearing, with no doubts regarding his sexuality.…”