77. Rapid Progression of Puberty on Low Dose Estrogen in Girls with Turner Syndrome: A Case Series

Abstract

<h3>Background</h3> Over 95% of girls with Turner syndrome (TS) who lack all or part of the X chromosome will experience premature ovarian insufficiency and will require estrogen replacement therapy to initiate and maintain puberty. However, the optimal protocol that mimics physiologic puberty while preserving growth potential is not yet known. Current recommendations to start with low dose estrogen increased incrementally over two to three years will typically result in thelarche within six months and menarche after an average of two years. Here we present three patients with TS who experienced rapid progression of puberty, with menarche occurring shortly after initiating the lowest dose of transdermal estrogen. Our institutional review board deemed this retrospective case series exempt from the need for IRB approval. <h3>Case</h3> Three 12-year-old females with mosaic TS (Table 1) presented for pubertal induction. On exam, the patients had tanner stage I breasts and pubic hair. Labs were consistent with ovarian insufficiency with elevated levels of follicle stimulating hormone (FSH) and undetectable levels of estradiol. They were each started on estradiol 14 ucg transdermal patch weekly for pubertal induction and experienced menarche within five months. Breast and pubic hair progressed to tanner stage II and III. Cases 1 and 2 subsequently had regular monthly menses with moderate flow. The dose of their transdermal estradiol patch was decreased by half to 7 ucg weekly. Case 3 developed heavy, irregular bleeding, which caused her to stop using the transdermal estrogen patch. Four months later, she reinstated estrogen use with half of her prior dose at 7 ucg weekly. At one year follow up, all three cases continued with the ultra low dose estradiol 7 ucg transdermal patch weekly without further episodes of vaginal bleeding. On imaging bone age was within normal limits. <h3>Comments</h3> These cases highlight the importance of starting estrogen replacement therapy at the lowest available dose in girls with Turner syndrome. Given the possible advancement of bone age with pubertal levels of estrogen, rapid progression to menarche could further impair the final growth potential in these patients who are already susceptible to short stature. Thus girls with TS should be monitored closely when initiating estrogen therapy and should be re-evaluated if they experience vaginal bleeding with low dose therapy.