Endocrine Abstracts

Introduction: Gonadal dysgenesis (GD) is a congenital disorder which results in defective development of gonads. GD may be due to mutation(s) in any of the genes involved in gonadal development and differentiation. Here we present clinical and molecular profile (SRY and SOX9 gene) of patients with GD at our hospital.

Methodology: Detailed clinical examination, karyotyping and molecular analysis of patients was done for SRY and SOX9 gene. The work has been approved by Institute Ethics Committee. A written informed consent was taken from all patients.

Results: We had 11 patients (2011–2013) diagnosed with GD. The present age of the patients was 19.0±9.0 years. The age at presentation was 14.8±8.5 years. Cytogenetic studies revealed 46, XY in 9 patients, 46, XX in 1 patient and 45, XO/46, XY in 1 patient. Ultrasonography for localization of gonads was done in eight patients. Four patients had dysgenetic gonad on one side with contralateral streak gonad on the other side, three patients had bilateral dysgenetic gonads and two had bilateral undescended testis. Molecular analysis revealed normal sequence of SRY gene, while as in SOX9 gene a transition of G>T at position 1776 (rs2229989) was found in 6 patients which was absent in controls.

Conclusion: The patients with gonadal dysgenesis need detailed molecular evaluation of all the genes involved in gonadal differentiation pathway. Also the base transition at position 1776 of SOX9 gene may alter the tertiary structure of protein.