Introduction: Primary amenorrhoea is defined as the absence of spontaneous menses by 16 years of age.There have been few, if any detailed reports of primary amenorrhoea from India.
Aim: To assess the clinical profile and aetiology in patients presenting with primary amenorrhoea attending a tertiary care hospital in India.
Materials and methods: A retrospective study was undertaken of patients presenting to a tertiary care institution over five years. Data was retrieved from medical records. Chief presenting complaint/s, associated symptoms, height, dysmorphic features, mental subnormality, pubertal features were noted. Hormonal and sex steroid assay, pelvic ultrasound and karyotyping results noted. CT and MRI scans were done wherever indicated and final diagnosis noted.
Results: There were 207 patients in our study with average age of presentation being 18.3 years, ranging from 16 to 31 years. One hundred and thirty-four patients presented with primary amenorrhoea as their chief complaint (64.7%), others with failure to gain height (6.7%), lack of/delayed appearance of secondary sexual characteristics (26.7%) and obesity (1.9%). Frank mental retardation was seen in 5 and poor scholastic performance in 13. Gonadal dysgenesis was the commonest diagnosis (39%) followed by hypogonadotrophic hypogonadism (22.3%), hypothyroidism (6.2%), Mullerian agenesis (4%), genital tuberculosis (2.8%), testicular feminization syndrome (2.4%) and other miscellaneous causes.
Conclusion: As compared to previous series from western data, our data shows that the average age of presentation is considerably later, mental subnormality is less and possibly aetiology is different. Racial and environmental differences may play a role in these as well as the fact that ours is a referral unit.