Endocrine Abstracts

JOINT533

Background: Turner’s syndrome (TS) presents with diverse clinical manifestations. The patients with TS are predisposed to develop osteopenia, osteoporosis and fractures owing to low bone mineral density (BMD). Prevention strategies and screening for poor bone health and psychological health should be initiated early in the course of disease to prevent further complications.

Objectives: To assess the clinical spectrum in patients with TS including the assessment of bone health and psychological wellbeing for which there is a paucity of data in the literature.

Methods: A cross-sectional observational study from a tertiary healthcare centre from north India. Karyotype proven TS (n: 67) attending the endocrinology outpatient department were included. All the subjects were evaluated for anthropometry, detailed records of clinical features and detailed physical examination. Areal BMD (L1-L4) estimation and the Z-score using HOLOGIC-DXA machine were performed in all patients. Psychological assessment was done using GAD7 (Anxiety) and PHQ9 (Depression) questionnaire for participant age ≥11 years.

Results: The most common karyotype found was 45X (54%) followed by 45Xi; Xq (13%). The median age of diagnosis was 15 years (4-27 years). Short stature (91%) and delayed puberty with primary amenorrhea (82%) were the predominant presenting complaints. The patients with menarche or HRT >2 years had significantly higher mean BMAD [0.243 (0.03) vs. 0.21 (0.02) gm/cm³; P <0.05] compared to prepubertal or patients with HRT for less than 2 years. The rate of mild to severe anxiety and depression in TS patients were significantly higher than that of healthy control (P value: <0.05) but not that of type 1 diabetic controls (p: >0.05).

Conclusions: Short stature & primary amenorrhea were the most common clinical presentation often leading to late diagnosis of Turner’s syndrome. Bone mineral density was significantly lower in patients with delayed puberty or inappropriate HRT, which suggest that timely and appropriate estrogen therapy is necessary to maintain appropriate bone health. While assessing the BMD in participants with TS, adjustment for height and/or smaller bones due to short stature is necessary to avoid false interpretation. Anxiety and depression were often unnoticed but were present in a significant number of patients. We must include routine and regular assessment of psychological wellbeing in management protocol of TS for early detection and management of psychological disorder in subjects with TS.