UDK: 616-056.7:575.22224.232]:616.71-007.234
www.doi.org/10.67214/zeahf840
Toshevska Stefanoska M.¹, Gulevska Vucinikj A.², Mucha A.¹, Jovanovska Mishevska S.¹, Bitoska I.¹, Mladenovska Stojkoska I.¹
¹University Clinic of Endocrinology, Diabetes and Metabolic disease, Skopje, N. Macedonia
²Univerisity Clinic for Cardiology and Cardiovascular Surgery, Skopje, N. Macedonia
Abstract
Introduction: Turner syndrome (TS) is a common sex chromosome disorder associated with gonadal dysgenesis, chronic estrogen deficiency, and increased risk of impaired bone mineral acquisition. Reduced bone mineral density may remain under-recognized during the transition from pediatric to adult care.
Case presentation: We report a 29-year-old woman with TS due to monosomy X (45, X), diagnosed at 17 years of age, who was referred for endocrine evaluation and skeletal assessment. She had short stature (141 cm), low body weight (38 kg; BMI 19.1 kg/m²), delayed puberty, primary ovarian insufficiency, and inconsistent adherence to cyclic estrogen–progestin replacement therapy. Hormonal evaluation showed hypergonadotropic hypogonadism, with elevated FSH and LH and low estradiol.
Thyroid evaluation confirmed autoimmune thyroiditis with stable thyroid function under levothyroxine replacement. DXA demonstrated bone mineral density below the expected range for her age, predominantly at the hip. Lumbar spine L1–L4 BMD was 0.901 g/cm² with a Z-score of −1.4, while total left and right femur Z-scores were −2.4 and −2.6, respectively. Femoral neck Z-scores ranged from −2.3 to −2.5. Vitamin D deficiency was also present. Although small bone size and short stature may contribute to underestimation of areal BMD by DXA, the markedly reduced femoral Z-scores, chronic hypoestrogenism, low body weight, inconsistent hormone replacement therapy, and vitamin D deficiency supported clinically relevant secondary skeletal impairment.
Conclusion: This case highlights the importance of lifelong skeletal surveillance in TS, including early DXA assessment interpreted with Z-scores, optimization of hormone replacement therapy, correction of vitamin D deficiency, adequate calcium intake, and fracture prevention strategies.
Keywords: bone mineral density; HRT; osteoporosis; Turner syndrome.
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