Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease‐related complications

Abstract

Patients with CAH and complete virilization have a high risk of being diagnosed late. There are major problems and uncertainties of the patients' families and the treating physicians concerning gender assignment. Gender identity is disturbed in some patients. In addition, multiple surgical procedures are necessary and short stature as well as central precocious puberty might be important to avoid late sequelae. While some surgical interventions are probably unavoidable, most of these issues could be resolved with an early diagnosis. Thus, especially for these patients, a neonatal screening programme for CAH would be of paramount importance.

Review of Outcome Information in 46,XX Patients with Congenital Adrenal Hyperplasia Assigned/Reared Male: What Does It Say about Gender Assignment?

“…Further review of reports of those with essentially complete male virilization includes the several studies that report subjects less than 17 years of age: two at 3.5 years of age and 12 years of age [16], another two 46,XX Prader 5 patients reared male without gender problems who were diagnosed during evaluation for cryptorchidism [7], six patients (including 2 brothers) diagnosed at birth but reared as male at parents insistence, who had no recognized evidence of gender problems at ages 3 to 16 years [17], and 3 Prader 5 patients assigned male continued to live as males when reported (aged 11–16 years) with one who expressing concern about “living as a male” [18]. …”

‘Who am I …?’

“…Male phenotype due to complete virilization 3,4 in this patient resulted in child being brought up as a boy for 6 years. A reassignment of gender at this stage would undoubtedly give rise to immense psychological, emotional and social repercussions although it is only as a girl that this child will have the possibility to retain fertility 4 . Continuing as a boy will result in breast development at puberty with 'menstruation' manifesting as bleeding per urethra4, which will be psychologically very damaging to the child.…”

“…This will result in breast development and cyclical bleeding. Suppression of puberty with a gonadotrophin releasing hormone (GnRH) analogue 4,5,6 would not be practical due to financial and transport constraints. Treatment with hydrocortisone by suppressing androgen production will also result in the innate female characteristics surfacing which will be very traumatic if the child were to continue as a boy.…”

“…Secondary central precocious puberty is a complication associated with delayed diagnosis and inadequately controlled adrenal androgen production 2,4,5,6 . There is premature activation of the hypothalamo-pituitary-gonadal axis associated with the advanced skeletal maturation which can lead to onset of puberty appropriate for skeletal age but early for chronological age 2,5 .…”

“…11 -hydroxylase deficiency is rare and accounts for about 5-8% of CAH. This condition in a girl results in ambiguous genitalia and is therefore detected at birth but if complete virilization occurs baby can be mistakenly identified as a boy resulting in male gender assignment 2,3,4 . Revelation of the true identity will then result in immense psychological trauma to child and parents.…”