ESPE Yearbook of Paediatric Endocrinology

Brief summary: This case series of five patients with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) treated in Damascus, Syria is presented to highlight the current management, including the difficulties of sex assignment, in this cultural context.

In Syria, female infants with 21-hydroxylase deficiency CAH and resulting virilization are generally considered to be male until proven otherwise. This case series reports on the care of five children born with CAH treated at three hospitals in Damascus, Syria between 2017 and 2020. Consanguinity was present in all five families. All five children were treated with hydrocortisone and those with salt-wasting were also treated with fludrocortisone. Two genetically female children were raised as male. One had hysterectomy and oophorectomy and her masculine appearance was preserved in the absence of gonads. The other only had one reconstructive surgery at the age of two years and was later raised as a boy. The authors note that this was the result of parental decision-making despite the counseling of both geneticist and endocrinologist, presumably due to regional and cultural traditions to ‘have a male that can be relied upon’. Interestingly, both had younger female siblings with CAH who were raised as female. Two other genetic female children had reconstructive surgery at less than 2 years of age and were raised as female. One reached normal menarche and carried a healthy pregnancy. The fifth patient was diagnosed at 4 years of age due to clitoromegaly and premature pubarche and was raised as female. Despite some menstrual irregularities in her teen years, she had two healthy pregnancies.

The authors advocate for improved multi-disciplinary support for genetic females diagnosed with CAH to provide psychological support, appropriate surgical intervention and reproductive assistance to support them in their natal sex.