Unraveling the etiology of primary amenorrhea: Insights from a tertiary care center in Peshawar, Pakistan

TL;DR

This study examines the causes and management of primary amenorrhea in young women at a hospital in Pakistan, finding that Müllerian agenesis is the most common cause.

Contribution

The study provides insights into the etiology and multidisciplinary management of primary amenorrhea in a specific regional healthcare setting.

Findings

Müllerian agenesis was the most common cause, affecting 39% of patients.

A multidisciplinary approach including surgery and counseling improved outcomes.

46% of patients were aged 14-20 years, with an average BMI of 22.8.

Abstract

The onset of menstruation heralds the beginning of feminism and fecundity. Primary amenorrhea is a distressing symptom and is often associated with late diagnosis and appropriate management. Our study aimed to find the frequency of primary amenorrhea along with its causes and subsequent management by a multidisciplinary team.

In our descriptive case series patients presenting with primary amenorrhea to the Department of Gynaecology, Khyber Teaching Hospital Peshawar from January 2018 to December 2022, were included. Gynecologist initially analyzed the cases based on history, clinical examination (secondary sexual characteristics, Body mass index) and relevant investigations including hormonal profile, pelvic ultrasound, MRI and karyotype. After final diagnosis, a multidisciplinary team comprising of plastic surgeon, endocrinologist and psychiatrist advised treatment based on cause. Relevant information was recorded on predesigned proforma. Data was analyzed using SPSS 23.

The frequency of primary amenorrhea was 0.3% out of 18,504 patients seen in Gynaecology clinic. Forty-six (82%) patients were in the age group of 14-20 years. The mean body mass index was 22.8±2.4. Mullerian agenesis was seen in 22(39%) of patients, 20(35.7%) had outflow tract abnormality which were treated by vaginoplasty or hymenectomy/ resection of vaginal septum depending on cause. Ten (17.8%) patients diagnosed with gonadal dysgenesis. Four(7.1%) patients with constitutionally delayed menarche had spontaneous onset of menstruation.

Disorders related to Mullerian agenesis are the most common cause of primary amenorrhea. Timely diagnosis by attending gynecologist and subsequent multi-modal approach, including psychological counseling, hormonal therapy, and tailored surgical interventions like neovagina creation by vaginoplasty, hymenectomy and laparoscopic gonadectomy can ensure appropriate management of this distressing condition in young girls.