Poor Outcome after Severe Masculinization among 46,XX Individuals with Congenital Adrenal Hyperplasia: Five initially Assignment as Male, Reassigned Female after Diagnosis
Ubirajara Barroso Jr, Chief, Head, Professor1, Eliakim Massuqueto, Postgraduation1, Bruna Venturini, Post graduation1, Collin Jones, Undergraduation2, Peter Lee, PhD, Professor3.
1CEDIMI, Salvador, Brazil, 2University of Rochester, Rochester, NY, USA, 3Division of Pediatric Endocrinology, Penn State Hershey Medical Center, Hershey, PA, USA.
Background: 46, XX infants with classical Congenital Adrenal Hyperplasia (CAH) (21-hydroxylase and 11-hydroxlase deficiency) typically present with virilization of the external genitalia. Unfortunately, over the decades, the long-term outcome of the higher virilized CAH patients raised females regarding sexual function, fertility and gender conformity has not been satisfactory. The lack of outcome data for these genetic females born with severe masculinization raised male vs female has resulted in controversy regarding gender assignment whether diagnosed in the neonatal period or initially registered as males. Therefore, the objective of the present study was to show provide outcome in 5 adult females with CAH and karyotype 46, XX, who were born highly virilized, registered as male at birth then reassigned to female. Methods: The medical records of 93 patients diagnosed with 46,XX CAH from a single center were reviewed and 5 were identified who are 18 years old or older who were born with Prader IV or V genitalia and registered as male at birth and subsequently reassigned female. A self-administered questionnaire was used for assessment of gender perception and satisfaction. A history of sexual activity was obtained. Results. The data of 5 study subjects, now 18 to 37 years of age, who were initially assigned male, show three of these participants responded that they feel "female", two both "male and female", one participant replied that she is only "part of the time" happy, and four women indicated that they were sexually attracted to men only, but the 4 had had no sexual activity with anyone. Conclusion. Among these 5, there are important concerns regarding gender identity, QoL, sexual life and fertility potential. Raising highly virilized 46,XX patients with CAH as males may be associated with better outcomes.
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