Multidisciplinary approach to gender reassignment surgery in a dsd 46xx patient with delayed diagnosis of congenital adrenal hyperplasia: A case report

The disorder of sex development (DSD) is defined as the congenital conditions in which the development of the chromosomal, gonadal, or anatomical sex is atypical. Congenital adrenal hyperplasia (CAH) consists of a family of disorders caused by reduced activity of enzymes required for the biosynthesis of cortisol in the adrenal cortex, resulting in increased levels of dehydroepiandrosterone sulfate and testosterone. The masculinization of a DSD 46XX patient with CAH is caused by excessive levels of male hormones. During adolescence, the diagnosis of DSD is often an alarming and traumatic event for both the adolescent and the family, considering that this a rare disorder and absolutely foreign to the majority of non-medical individuals. The management of DSD is extraordinarily heterogeneous across centers, and pre- and post-treatment evaluations are mostly subjective, examiner-dependent, and influenced by cultural norms. In this article, we report a rare case of delayed diagnosis of DSD 46XX in a 23-year-old patient with CAH. The patient exhibiting genital ambiguity and primary amenorrhea, desired to be a male person. The levels of hormones were as follows: high dehydroepiandrosterone sulfate, 937.8µg/dL); high testosterone, 27.3nmL/L; and low estradiol, 45pg/mL, corresponding to the normal levels of a male. A multidisciplinary team, consisting of a reproductive endocrinologist, plastic surgeon, metabolic endocrinologist, psychiatrist, and the hospital ethics committee, collaborated to address the patient’s desire regarding her gender condition. Prolonged exposure to androgens results in masculinization of the brain. Therefore, she preferred to become a male instead of a female. She underwent total laparoscopy hysterectomy and masculinizing reconstructive surgery on her external genitalia. In addition, prior to and following surgery, the patient received psycho-adaptive therapy.