Spectrum of Turner's syndrome: Our experience

Abstract

Introduction: Turner's syndrome (TS) is the most common sex chromosome disorder in women, with an incidence of 1 in 2,500 female births. TS is characterized by distinctive features of short stature, streak gonads, increased risk of heart and renal defects and specific cognitive and psychosocial phenotype. Materials and Methods: We conducted a study in the department of endocrinology, GGH, Kurnool, for one year. 27 cases presented with short stature and primary amenorrhea, recurrent otitis media, were diagnosed as TS after detailed workup. We started growth hormone therapy for some patients with short stature. Gonadectomy was conducted for TS patients with Y component, and they were asked for regular follow-up. Results: Out of 27 cases, 12 were found to be turner mosaic, 15 were classical cases of TS. Conclusion: TS can be diagnosed with a high degree of clinical suspicion and confirmed by karyotyping. TS if identified earlier, growth can be achieved to the maximum potential. Early identification and proper management can improve the outcome and decrease the complications associated with TS.

Keywords

• growth hormone
• karyotype
• non-disjunction of chromosome
• turner's syndrome