Elsevier

Journal of Pediatric Surgery

Volume 54, Issue 11, November 2019, Pages 2421-2427
Journal of Pediatric Surgery

Urology
Gender dysphoria and XX congenital adrenal hyperplasia: how frequent is it? Is male-sex rearing a good idea?

https://doi.org/10.1016/j.jpedsurg.2019.01.062Get rights and content

Abstract

Introduction

The frequency of gender dysphoria (GD) among 46,XX congenital adrenal hyperplasia (CAH) patients is unknown. These data are needed to put into perspective the debate about the timing of reconstructive surgery and possible male-raising of the most severely virilized children.

Objective

To analyze the frequency of female to male GD between 46,XX individuals raised as females; to identify subgroups with higher chances of showing GD; to describe the results of male-raising among 46,XX CAH patients.

Materials and methods

Analytic/descriptive literature review (January 1988 to April 2018).

Results

Female-raised patients frequently report the desire to be male, adopt male-typical behavior and are frequently homosexual/bisexual as adults, but this does not correspond to GD. Declared GD among 46,XX CAH patients attained 9% of the reported cohorts, generally in late adolescence/adulthood. We could not prove a relationship between inadequate treatment, null-genotype, late diagnoses, a higher degree of virilization, type of CAH or higher levels of androgens and female to male GD, but this may be due to statistical limitations. Male gender raised patients (MGR) were 10.1% of CAH cohorts included in this review, mostly from underdeveloped countries, with a high proportion of late diagnoses (76.3%) and familial choices. GD was more common in this group than among female-raised patients. Opting for male gender relates to a short final height, the need for multiple surgeries, surgical castration before puberty and infertility.

Conclusion

Both male to female and female to male GD may present in 46,XX CAH patients in a contemporaneous cohort. The proportion of GD is higher among patients raised as males. DSD patients sexual maladjustments are complex and not comparable to the transgender population. Many 46,XX CAH patients with GD define themselves as gender-fluid and do not seek for legal/formal transition. Male-raising Prader 4/5 46,XX CAH patients imply infertility and multiple surgeries. There is no proof that any subgroup of CAH is more prone to GD, despite null genotypes, salt wasting phenotypes and Prader 4/5 cases being related to male-typical behavior and female homosexuality.

Type of study

Descriptive/analytic non-systematic REVIEW.

Level of evidence

3

Section snippets

We made an analytic descriptive, non-systematic literature review

The terms “(congenital adrenal hyperplasia) AND gender”, “(XX) AND (congenital adrenal hyperplasia) AND (male gender)” and “(congenital adrenal hyperplasia) AND (gender dysphoria)” were used to find papers thorough PUBMED. The abstracts were then reviewed after eliminating duplications. Papers were then selected to be read in toto.

The review extended for 30 years (from January 1988–April 2018). Reviews, editorials and opinion papers were rejected. Due to the specificities of the literature on

Results

After our initial research, 1770 papers were retrieved; 56 papers were selected to be read in toto after review of the abstracts, exclusions and elimination of duplicates. References of the papers were checked in order to find other related papers. After reading of the papers, the analytical review was based on data obtained from 28 articles. Most papers did not detail the methodologies used to diagnose and treat GD, but specialized professionals (psychologists, psychiatrists, sexual

Discussion

We opted to review the last 30 years, based on the recent modifications of the societal views about gender rights, consequences of FG [26] and new techniques of genital reconstruction [27], [28]. The last review about GD related to CAH was published in 2005 [29], and results about male raising were reviewed in 2010 by Lee and Houk [30]. Considering the limitations in the literature, it was not possible to perform a systematic review. This made us opt for an analytic review. Our research

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      Citation Excerpt :

      CAH has been utilized as a model for testing hormonal hypotheses related to the influence of early androgen exposure on behaviors exhibiting sex-related variability, in particular psychosexual differentiation (i.e., gender identity, gender role, and sexual orientation) and sex differences in neurocognitive function. Although the rate at which females with CAH experience gender dysphoria is significantly higher than in the general population (de Jesus et al., 2019), the large majority of females with CAH reared as girls develop a feminine gender identity and do not express feelings of gender dysphoria (Dessens et al., 2005). With regard to gender role (i.e., behaviors that differ in frequency or level between males and females that are promoted by social learning), affected girls prefer toys and activities characterized as male-typical (Berenbaum and Hines, 1992; Berenbaum and Snyder, 1995), are more likely to report the use of physical aggression in conflict situations (Berenbaum and Resnick, 1997), and are less interested in marriage, motherhood, and physical appearance (Dittmann et al., 1990) than unaffected girls.

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