MON-193 Androgen Insensitivity Syndrome: A Tale of Two Tails

Introduction: In 1953, the term testicular feminization syndrome was introduced in a cohort of male pseudohermaphrodites. Since its first report, a better understanding of this disorder of sex development (DSD) has been described. Complete Androgen Insensitivity Syndrome (CAIS), an X-linked DSD in 46, XY has an incidence of 1-5 in 100,000 genetic males. Management is individualized and revolves around a multidisciplinary team including surgeons, endocrinologists, geneticists, medical ethics, and clinical psychologists. While studies suggest assimilation of a female identity in CAIS, gender dysphoria (GD) has been reported. Failure to ask people about their gender identity (GI) can lead to the assumption that one identifies with the gender assigned at birth, missing an opportunity to detect GD. Clinical Case: A 63-year-old gender non-conforming with major depressive disorder, hypertension and hypothyroidism was evaluated in 2009 for CAIS. A history of bilateral inguinal hernia repair at age 2 and primary amenorrhea did not raise concerns early in life for DSD, until a routine physical during their early 20s led to the diagnosis. They reported feeling uncomfortable wearing dresses as young as 3 years old, struggling with relationships, low libido, fatigue and ongoing suicidality. A physical exam included developed breasts (Tanner stage V), and no palpable masses on abdomen. Initial labs showed: FSH 4.7 mIU/mL (1.4-18.1), LH 10.2 mIU/mL (1.2-8.6), estradiol 47 pg/mL (0-39), and total testosterone 2.2 ng/mL (1.75-7.81). MRI abdomen/pelvis showed a blind end vagina, no uterus and retained gonadal tissue bilaterally (cysts/follicles, largest 1.8cm on the right and 5.2x5.3cm on the left). Karyotype analysis showed 46, XY. Androgen receptor gene analysis was not available. Urology recommended gonadectomy followed by hormone replacement therapy but patient was not interested. Despite a multidisciplinary approach, GI or GD was never addressed throughout the 10-year follow up. A female gender identification was assumed and the patient did not volunteer this information because of a history of victimization and mistrust of the medical community. Conclusions: Available literature on AIS often fails to report gender identity in individuals living with a DSD. It is unclear whether this is due to patients’ fear of being refused medical care on this basis, or alternatively, due to providers’ oversight of crucial conversations. Case reports have described GD in DSD. Failure to identify or address GD by assuming GI can have a serious impact in patients' overall wellbeing. Patients with GD have been described to have a high risk of suicide, further underscoring the need for support from family, friends and providers. Endocrinologists should have these conversations in order to identify and appropriately address GD, and facilitate patient autonomy and self-determination.