Shereshevsky–Turner syndrome: challenges in treatment adherence and safety

Abstract

Shereshevsky–Turner syndrome (STS) is a chromosomal pathology characterized by short stature, gonadal dysgenesis/agenesis, hypoestrogenism, and a broad spectrum of endocrine, cardiovascular, and other comorbidities. This article presents two clinical cases of women aged 42 and 43 years with STS complicated by type 1 diabetes (T1D), arterial hypertension, dyslipidemia, osteoporosis, autoimmune thyroiditis, and chronic complications of diabetes. In the first case, a patient with a mosaic karyotype (45,X/46,XX) and long-standing T1D experienced an acute cerebrovascular accident while receiving hormone replacement therapy (HRT) with combined estrogen–progestin oral agents. In the second case, a patient with a 45,Х karyotype had never received HRT, resulting in the early development of secondary osteoporosis. Based on the analysis of these clinical cases and a review of the literature, this article addresses the timing and safety of HRT initiation and highlights the advantages of transdermal estrogen formulations. It also examines challenges in T1D management and factors associated with poor treatment adherence. These observations underscore the need for a multidisciplinary approach to the management of women with STS, given their increased risk of metabolic, cardiovascular, and skeletal complications. Key words: Shereshevsky–Turner syndrome, diabetes, hormone replacement therapy, secondary osteoporosis