P3C019: Abnormal Uterine Bleeding in Turner Syndrome: A Case Report and Review of Literature

Introduction: Turner syndrome (TS) impacts approximately one in 2000 to 2500 live born females. Short stature and primary ovarian insufficiency are two important endocrine features of this genetic condition. A majority of patients with non-mosaic TS and some with mosaic TS require induction of puberty with estrogen therapy. Abnormal uterine bleeding (AUB) is defined as bleeding from the uterus that is abnormal in duration, volume, frequency and/or regularity. AUB is common in the adolescent population, particularly in the early months following menarche. Although there is an abundance of literature regarding treatment of AUB in the adolescent population, there is very little information regarding the treatment in patients with TS. We present a case of a patient with mosaic TS who presented with AUB after hormonal induction of puberty.

Case Description: This is a 16-year-old female who was diagnosed with mosaic Turner syndrome at age 13. Pubertal induction was initiated at age 14 with a low dose estradiol patch of 25 mcg daily which was gradually increased. At 16, she was still premenarchal, and on physical exam she was SMR III for breasts and SMR IV for pubic hair. Her estradiol patch was increased from 37.5 mcg to 50 mcg daily. Within a few months, she experienced menarche, and progesterone was added for full sex hormone replacement. One month after starting prometrium 200 mg PO daily for 12 days of each cycle, she developed prolonged and heavy abnormal uterine bleeding. Her AUB was treated with combined oral contraceptive tablets (norgestrel 0.3 mg/ethinyl estradiol 30 mcg) starting with 3 tablets a day for 2 days, 2 tablets a day for 2 days, and then 1 tablet PO daily. She was advised to continue the estradiol patch and discontinue the progesterone. The abnormal uterine bleeding resolved with continuous OCP regimen for 3 months. After that she went back to estradiol patch 75 mcg and prometrium 200 mg daily, 12 days each month with normal menses.

Discussion: This case adds to the limited existing literature regarding the management of AUB in patients with TS. Although transdermal estrogen is the most physiologic option for estrogen replacement and results in a more positive effect on bone mineral density and better blood pressure profiles in patients with TS, clinicians often opt for combined oral contraceptives after pubertal induction due to patient preference, irregular bleeding, cost and/or adherence. Our literature search revealed only two other case reports of AUB in patients with TS.

Conclusion: This case of our patient with mosaic TS who developed AUB soon after menarche with pubertal induction will add to the current literature and provide guidance on how to approach patients with TS and AUB.