Gender of rearing and psychosocial aspect in 46 XX congenital adrenal hyperplasia

Abstract

Background:In congenital adrenal hyperplasia (CAH) with ambiguous genitalia, assigning gender of rearing can be complex, especially If genitalia is highly virilized. Apart from karyotype, prenatal androgen exposure, patient's gender orientation, sociocultural, and parental influences play a role. The aim of this study was to assess gender dysphoria and psychosocial issues in patients of CAH raised as males and females.Materials and Methods:This is a cross-sectional study that includes patients (old and new) with CAH who were treated by us in the last 6 months. A semi-structured interview proforma was used to elicit history and psychosocial background of the patients. The clinical and biochemical details were noted. For psychological analysis, patients were screened for gender dysphoria using Parent Report Gender Identity Questionnaire for children <12 years and Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults.Results:We analyzed 22 46 XX CAH patients among which, 3 were reared as males and 19 as females. Among the 19 patients reared as females, 17 patients showed no gender dysphoria. Two patients revealed gender dysphoria as indicated by their marginally low scores on the gender dysphoria assessment. However, in view of current literature and the age groups of the patients, behavior of the 6-year-old patient can be best understood as being tomboyish. Gender dysphoria in the 22-year-old can be explained by the dominance of psychosocial factors and not hormones alone. Among the three patients reared as males, two prepubertal were satisfied with their male gender identity. The third patient, aged 32 years, had gender dysphoria when reared as a male that resolved when gender was reassigned as female and feminizing surgery was done.Conclusion:Gender assignment in 46 XX CAH is guided by factors such as degree of virilization of genitalia, gender orientation, patient involvement, sociocultural, and parental influences.

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

“…Most females with virilising CAH are diagnosed at birth with ambiguous genitalia, while the diagnosis is delayed in males, who have normal genitalia at birth and present in early childhood with precocity [5,6]. Rarely, females with CAH and severe intrauterine androgen excess are raised as a male and present late, similar to our case [7-10].…”

Psychological adjustment, quality of life, and self-perceptions of reproductive health in males with congenital adrenal hyperplasia: a systematic review

“…The literature on CAH has mainly focused on gender issues and psychosocial adjustment in females [ 42 , 45 , 62 , 63 ]. Both genders face some of the same challenges, such as living with a rare chronic disease, the risk of glucocorticoid over- and undertreament, with corresponding disturbances of weight and growth development, school absences due to frequent medical procedures, possible androgen effects on brain development and behavior, risks for impaired reproductive health, and/or potential psychosocial and emotional issues that could be associated to the condition and its treatment.…”

Recurrent haematuria; a rare presentation of 46XX Congenital adrenal hyperplasia presenting late and reared as males – two cases

“…There is scarcity of data on gender identity among females with CAH (4) . Some studies showed among 46XX CAH, only a minority developed gender dissatisfaction when reared as females, but there are also reports of successful male gender assignments (5,6) .…”