Introduction: The understanding and approach to management of DSDs has undergone rapid changes in recent years with focus on early diagnosis followed by disclosure and decision making with family members. However in certain regions specially in developing countries, lack of awareness and the social environment contribute to late diagnosis and problems in management. The present study was done to assess the clinical presentation of DSDs attending an endocrine clinic at a tertiary care centre in North East India.
Methods: Retrospective analysis of patients with DSD presenting to the Endocrinology Department of Gauhati Medical College over a period of 5 years from Jan 2006 to Dec 2010. The presenting features, age at presentation, sex of rearing and any associated unusual features were recorded. The patients had been subjected to clinical examination, relevant hormonal estimation, imaging procedures and karyotype. Genetic studies for specific defects were not done due to lack of facilities.
Results: There were a total of 58 patients with DSD. Of these 33 were sex chromosome DSD (19 Turner, 14 Klinefelter). The age of presentation of Turners ranged from 14 to 40 years with failure to attain puberty being the major reason for consultation. In patients with Klinefelters age at presentation ranged from 17 to 30 years. There were 10 patients with 46XX DSD (simple virilizing 21 OH def in 3, pure gonadal dysgenesis in 3 and mullerian agenesis in 4). 46XY DSD was seen in 15 patients (3 partial androgen insensitivity, 1 complete gonadal dysgenesis and isolated hypospadias in 11).
Conclusion: Relatively late presentation of Turner pts seen due to lack of awareness. The small number of CAH pts may be due to social taboos or low incidence of consanguinity in this region.
30 Apr - 04 May 2011
European Society of Endocrinology