Disease and Health Research: Recent Developments Vol. 1

Background: Amenorrhoea has heterogeneous anatomical, gonadal, endocrine and chromosomal causes, and its distribution may vary according to referral patterns and population characteristics. This chapter evaluates the aetiological profile of primary and secondary amenorrhoea among patients attending a tertiary care centre in Western India and places these observations within the broader clinical and pathophysiological framework of menstrual disorders.

Methods: A retrospective review was conducted using medical records of 170 non-pregnant patients who presented with primary or secondary amenorrhoea to the Department of Obstetrics and Gynaecology, IKDRC-ITS, Ahmedabad, Gujarat, from January 2014 to December 2022. Clinical presentation, development of secondary sexual characteristics, physical examination findings, hormonal profile, pelvic imaging and cytogenetic evaluation, including karyotyping when indicated, were reviewed.

Results: Of the 170 patients, 144 (84.70%) had primary amenorrhoea and 26 (15.29%) had secondary amenorrhoea. Most patients with primary amenorrhoea were younger than 20 years. End-organ failure or genital tract/outflow tract abnormality was the most frequent aetiological group in primary amenorrhoea, affecting 103 patients (71.49%). Mullerian agenesis was the most common individual diagnosis, reported in 77 patients (53.47%), followed by hormonal causes in 23 patients (15.97%) and gonadal failure in 11 patients (7.63%). Complete androgen insensitivity syndrome was identified in three patients. Among patients with secondary amenorrhoea, hypergonadotropic hypogonadism was reported in 13 patients (50%), hypogonadotropic hypogonadism in four patients (15.38%), premature ovarian failure in three patients (11.53%) and an unknown cause in six patients (23.07%). All patients with secondary amenorrhoea presented with infertility. Renal anomalies were documented in 25 patients with primary amenorrhoea, with a single kidney being the most frequent association.

Conclusion: Mullerian anomalies were the predominant cause of primary amenorrhoea, while hypergonadotropic hypogonadism was the leading identified cause of secondary amenorrhoea in this tertiary care setting.