scholarly journals Male Gender Identity and Reversible Hypokalemic Hypertension in a 46,XX Child with 11-Beta-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Cureus ◽  
2019 ◽  
Author(s):  
Alpesh Goyal ◽  
Hiya Boro ◽  
Rajesh Khadgawat
Keyword(s):  
Gender Identity ◽  
Congenital Adrenal Hyperplasia ◽  
Male Gender ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Hypokalemic Hypertension

scholarly journals Effects of Pre and Post-Natal Androgen Exposure on Psychosexual Aspects and Gender Change in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A500-A501
Author(s):  
Rafael Loch Batista ◽  
Marlene Inacio ◽  
Mirela Costa de Miranda ◽  
Guiomar Madureira ◽  
Larissa Garcia Gomes ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
External Genitalia ◽  
Male Gender ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Androgen Exposure ◽  
Sex Assignment ◽  
And Gender ◽  
21 Hydroxylase Deficiency ◽  
Gender Change

Abstract Introduction: Congenital Adrenal Hyperplasia (CAH) is defined as a group of autosomal recessive disorders characterized by a deficiency of the enzyme required to synthesize cortisol by the adrenal cortex. Defects in the 21-hydroxylase enzyme make up 90% of CAH. These defects impaired cortisol synthesis leading to an ACTH increase resulting in androgen excess in both salt-wasting (SW) or simple virilizing (SV) forms. As androgens play a role in the human psychosexual development favoring male psychosexuality, this study was designed to evaluate the impact of androgen exposure on the psychosexuality of individuals with CAH due 21-hydroxylase deficiency. Methods: This retrospective cohort includes 46,XX individuals (115 female-assigned; 8 male-assigned) with a molecular diagnosis of CAH due to CYP21A2 pathogenic variants in homozygous or compounds heterozygous state. External genitalia virilization was scored using Prader scale. Phenotype, time at diagnosis, sex assignment, and gender change were assessed. The gender role at childhood was assessed through the playmates and toys profile at childhood. Gender identity was assessed by a projective psychological test (HTP). Sexual orientation was assessed by self-report sexual identity. Compliance of glucocorticoid replacement was assessed by adequate testosterone and androstenedione serum levels for age. Results: CAH was diagnosed at the neonatal time in 73% (n=78). Fifth-nine (51%) had the SW form and 49% (n=56) had the SV form. While all cases of SW were diagnosed at the neonatal time (0.12 ± 0.14 months), the mean age at diagnosis among SV was 6.03 ± 8.45 years (p=<.001). The median of Prader score was 3 in both forms. Male sex assignment was associated with more virilized external genitalia (p=.002). Gender change occurred in 6 cases (female to male), all with SV form. The prader score was higher among those who changed gender (p=.01). All of those who changed their gender had poor treatment compliance. A total of 13% (n=15) of all groups defined themselves as homosexual. There was a strong association between male toys and preference for male playmates in childhood with homosexuality and male gender identity in adulthood with both gender change from female to male and homosexuality. Conclusion: Prenatal androgen exposure favors male psychosexuality in 46,XX CAH individuals as observed by the association between highest Prader scores and all assessed psychosexual outcomes. This influence is also substantiated by post-natal androgen exposure as observed by compliance issues and late diagnosis among those who changed from female to male gender.

Male Gender Identity in an XX Individual with Congenital Adrenal Hyperplasia: A Response by the Authors

2009 ◽  
Vol 6 (1) ◽  
pp. 298-299 ◽  
Author(s):  
Juan Carlos Jorge ◽  
Carolina Echeverri ◽  
Yailis Medina ◽  
Pedro Acevedo
Keyword(s):  
Gender Identity ◽  
Congenital Adrenal Hyperplasia ◽  
Male Gender ◽  
Adrenal Hyperplasia

scholarly journals Gender identity in congenital adrenal hyperplasia secondary to 11-hydroxylase deficiency

2006 ◽  
Vol 26 (3) ◽  
pp. 239-241 ◽  
Author(s):  
Bassam S. Bin-Abbas ◽  
Nadia A. Sakati ◽  
Abdullah A. Al-Ashwal
Keyword(s):  
Gender Identity ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency
Sign in / Sign up

Export Citation Format

Share Document