Male gender identity in an XX individual with congenital adrenal hyperplasia.
BACKGROUND
In spite of significant changes in the management policies of intersexuality, clinical evidence show that not all pubertal or adult individuals live according to the assigned sex during infancy.


OBJECTIVE
The purpose of this study was to analyze the clinical management of an individual diagnosed as a female pseudohermaphrodite with congenital adrenal hyperplasia (CAH) simple virilizing form four decades ago but who currently lives as a monogamous heterosexual male.


METHODS
We studied the clinical files spanning from 1965 to 1991 of an intersex individual. In addition, we conducted a magnetic resonance imaging (MRI) study of the abdominoplevic cavity and a series of interviews using the oral history method.


METHODS
Our analysis is based on the clinical evidence that led to the CAH diagnosis in the 1960s in light of recent clinical testing to confirm such diagnosis.


RESULTS
Analysis of reported values for 17-ketosteroids, 17-hydroxycorticosteroids, from 24-hour urine samples during an 8-year period showed poor adrenal suppression in spite of adherence to treatment. A recent MRI study confirmed the presence of hyperplastic adrenal glands as well as the presence of a prepubertal uterus. Semistructured interviews with the individual confirmed a life history consistent with a male gender identity.


CONCLUSIONS
Although the American Academy of Pediatrics recommends that XX intersex individuals with CAH should be assigned to the female sex, this practice harms some individuals as they may self-identify as males. In the absence of comorbid psychiatric factors, the discrepancy between infant sex assignment and gender identity later in life underlines the need for a reexamination of current standards of care for individuals diagnosed with CAH.
Jorge
Juan Carlos
JC
Department of Anatomy and Neurobiology, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico. jcjorge@rcm.upr.edu
Echeverri
Carolina
C
Medina
Yailis
Y
Acevedo
Pedro
P
D015065:17-Hydroxycorticosteroids / Q000378:metabolism; D015068:17-Ketosteroids / Q000378:metabolism; D000311:Adrenal Glands / Q000378:metabolism; D000312:Adrenal Hyperplasia, Congenital / Q000145:classification / Q000175:diagnosis* / Q000378:metabolism*; D000328:Adult; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000145:classification / Q000175:diagnosis* / Q000378:metabolism*; D005260:Female; D005783:Gender Identity; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008487:Medical History Taking; D008875:Middle Aged; D011647:Puerto Rico
D015065:17-Hydroxycorticosteroids; D015068:17-Ketosteroids