AIM: To describe the clinical features of patients presented with primary amenorrhoea and streak gonads from a single village and their response to treatment in a tertiary care hospital, thenceforth trace the source of genetic insult. METHODOLOGY: Patients attending outpatient department with primary amenorrhea and absent or poorly developed secondary sexual characters were examined clinically for height and genital development. They were evaluated with pelvic ultrasound, serum Follicle Stimulating Hormone, and karyotyping. RESULTS: Four patients presented at the age of more than 24 years with primary amenorrhea and poorly developed secondary sexual characters who were from a single village at Puducherry. On evaluation, pelvic ultrasound revealed steak gonads and serum FSH levels were elevated in all of them. Out of four, three of them had normal stature and one patient was short statured despite her genotype revealing 46XX. Among the patients with normal height, one had 45 X0 genotype. Thus they had unusual genotypic and phenotypic combinations. All of them responded well to hormone treatment. CONCLUSION: Diagnosis of pure gonadal dysgenesis must be done earlier for initiation of hormonal treatment. Search for teratogenic aetiologies for gonadal dysgenesis in that locality needs to be done.