PSAT121 Treatment considerations in a patient with Turner syndrome and Gender Incongruence

Abstract

Abstract Background Gender incongruence has not been described in Turner Syndrome (TS) patients. Estrogen replacement for ovarian failure has been an integral part of the management of TS to improve body composition, lipid profile and bone mineral density. There is limited data supporting testosterone supplementation in patients with TS. We present a transgender male patient with TS (mosaicism 45X/46XX) who underwent affirming therapy with testosterone. Clinical Case 12 years 6 month old adoptive Vietnamese assigned female at birth presented to Endocrine clinic for short stature. At that time patient had spontaneous menarche at age 11 years and menorrhagia with irregular menses. Further evaluation showed a karyotype consistent with TS and a FISH study that did not reveal Y chromosome material. Patient's skeletal age was 13 years 9 months (based on female Greulich and Pyle standards), growth hormone therapy could not be completed. Patient was started on oral estrogen + progesterone treatment to regulate menses. Cardiovascular evaluation including EKG and Echocardiogram showed mild aortic root dilation and prolonged QTc. BMI was >99th percentile. Lab studies including thyroid, lipid panel, glucose, HbA1c, liver and kidney functions were normal. At the follow up visit at age 14, patient identified as being masculine with a desire to have a broader chest and phallus, and distress regarding gender identity which reportedly had been present for 3 years. He met with our gender health team including reproductive endocrinologist for consideration of reproductive function and fertility options, he decided not to pursue these options. Testosterone treatment was initiated using the endocrine society protocol at age 15 years 2 months after extensive counseling and confirmation of gender incongruence by two specialists. Cardiac MRI was obtained at baseline and repeated at 1 year after treatment with no changes to the underlying aortic dilation. Lab studies were repeated every 6 months and remained normal. Hemoglobin was high normal at 16. Follow up visits completed every 3-4 months showed normal vital signs, increased BMI which was reflective also of muscular changes associated with testosterone treatment and overall satisfaction with the lack of menses and masculine changes. He completed 'top surgery' at age 16 years 3 months and currently at age 18 started college having successfully transitioned socially as well as physically. Conclusions This case emphasizes the importance of personalized treatment of patients with TS who present with gender incongruence. While testosterone treatment in TS (outside of a small study looking at low dose oral testosterone) patients is not well studies, a thorough risk and benefits discussion with the patient and collaboration with a variety of providers including mental health providers, reproductive endocrinologist and cardiologist remain important as gender affirming therapy is lifesaving for individuals who may have already overcome a lifetime of challenges. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.