The effect of hormone replacement timing on bone mineral density accrual in young patients with Turner syndrome

Abstract

Background: Turner syndrome (TS) is caused by partial/complete X-chromosome monosomy with variable phenotypes, characterized by hypogonadism and short stature. To achieve normal puberty, 90% of patients with TS require hormone replacement therapy (HRT) and 80% have low bone mineral density (BMD), risking osteoporosis and fractures. Studies show that timing of puberty correlates with bone health, and delays in puberty are associated with decreased BMD. Currently, guidelines suggest HRT start at 12 years with low-dose estrogen replacement therapy (ERT), increasing slowly, simulating normal pubertal progress.