Frequency, clinical presentation and management of primary amenorrhea in a tertiary care setting.

Abstract

We aimed to determine frequency, clinical presentation, etiology and management in patients presenting with primary amenorrhea in tertiary care setting. This was a case series conducted in outpatient Department of Gynecology and Obstetrics unit II, Dr. Ruth K. M. Pfau Civil Hospital Karachi from 1st July 2019 to 30th June 2022. A total of 20,102 patients attended Gynaecology outpatient department in these three years. We included 41 cases with primary amenorrhea. Information collected on a specially designed proforma included history, physical examination, hormonal workup, ultrasound, radiological investigations and karyotyping results. Data was entered and analyzed by SPSS version 26.0. The frequency of PA was 41(0.2%). The mean age was 17.93± 4.27 years (range13-37). Majority 38(92.6%) were unmarried, educated till secondary 24(58.5%), of normal height 28(68.2%) and normal BMI 30(73%). Main associated complaint was cyclical lower abdominal pain 8(22%). Most common cause found was Mullerian dysgenesis 17(41.46%). Others were chromosomal disorder 10(24.39%), imperforate hymen 6(14.63%), constitutional delay 5(12.19%), transverse vaginal septum 2(4.87%) and congenital adrenal hyperplasia 1(2.43%). The chromosomal analysis revealed 46XX in 31(75.6%), 45XO/45XO Mosaic in 6(14.63%) and 46XY in 4(9.75%) patients. Surgical correction was possible in 14(41.66%) patients, hormone replacement therapy (HRT) was given in 10(22.2%) and rest treated with placebo. Primary amenorrhea is a significant problem in adolescent girls. We found Mayer Rokitansky- Kuster- Hauser syndrome (MRKH) syndrome as the commonest cause in our series. There is need to promptly identify the patients who need medical, surgical or psychological management. It is also required to make local strategies and guidelines for evaluation, management and long term follow up.