The end of the menstrual period in a woman of reproductive age is known as amenorrhea. Primary amenorrhea takes place when a woman does not reach menarche by the age of 15, whereas secondary amenorrhea occurs when a woman with a history of regular cycles stops having periods for longer than three months, or longer than six months if she has had at least one previous spontaneous cycle.1,2 According to WHO estimates, amenorrhea is the sixth leading cause of subfertility, with a frequency of around 3 to 4% excluding pregnancy, breastfeeding, and menopause.3 Menstrual onset can be influenced by a number of patient-specific circumstances, while amenorrhea might have several contributing aspects.

 Evaluation and specialized therapy are necessary for both primary and secondary amenorrhea.4 There are several levels of the hypothalamic-pituitary-gonadal axis where amenorrhea can occur, and its cause is diverse. Common reasons include chromosomal abnormalities, ovarian insufficiency, pituitary and hypothalamic causes, endocrine problems, and disorders of the anatomy and sexual development. Stress drugs and physiological factors are frequently linked to secondary amenorrhea.5 Developmental abnormalities or imperf orate hymen are frequently associated with primary amenorrhea. Gonadal dysgenesis and Müllerian agenesis are the most prevalent developmental abnormalities.6 Absence of Androgen Insensitivity Syndrome (AIS) and Müllerian structures are two other categories of out-of-control abnormalities.

 MRKH is frequently linked to abnormalities such as skeletal, renal, & auditory effects.7 Usually, MRI or ultrasound are used to make the diagnosis. Androgen resistance in genetic men with functioning testes is the cause of AIS. Although the clinical features of MRKH and AIS are similar, they differ in a few key ways.8 Primary amenorrhea is a difficult issue in underdeveloped nations like Pakistan because of social pressure and unidentified fear. It impacts the patients' and their families' physical, mental, psychological, and social well-being, which results in a delayed diagnosis. There is a misperception that primary amenorrhea is primarily caused by hormonal effects, and therapy is provided in accordance with this idea.9 The present study was carried out to find out the frequency of Primary Amenorrhea due to developmental defects in adolescent girls.

The current cross-sectional study was carried out at the at the department of Gynaecology department, DHQ Hospital landikotal from March 2025 to August 2025 after getting permission from the ethical board of the hospital. The sample size was determined through WHO calculator by taking 95% confidence interval with absolute precision 3. 5%.non probability sampling method was used for sample collection. The sample size found out was 195.Femals of different age groups (ranged 12-18 years) presented with primary amenorrhea were included in this study. Amenorrhea was defined as the lack of menstruation by the age of 16 years despite normal growth and the development of secondary sexual characteristics or the failure of menstrual onset by the age of 14 years in individuals without secondary sexual features. Females with anorexia nervosa, weight loss, acute illness, chronic systemic disease and hypopituitarism were excluded. All participants were subjected to physical tests and a detailed history. Patients were sent to the hospital's radiology department for trans-abdominal ultrasounds or referrals, which were read by senior radiologists having at least four years of expertise in the relevant filed. Developmental defects such as imperforate hymen, MRKH syndrome, transverse ventricular septum, and gonadal dysgenesis were evaluated and recorded. When an ultrasound revealed a "streak" of fibrous tissue in the anticipated position of the ovaries, along with the possibility of no or very few ovarian follicles, gonadal dysgenesis was diagnosed.10 On ultrasound, the transverse vaginal septum appears as a shortened, blind vaginal pouch with positive trans illumination. The septum can occur anywhere along the vaginal cavity, though the vulva usually looks normal if the septum is in the mid or upper vagina.11 Müllerian agenesis is suggested by ultrasound scans showing no uterus and the top two thirds of the vagina, along with normal ovaries and fallopian tubes. The collected data was analyzed through SPSS version 26. For quantitative variables mean and standard deviation were used and for qualitative variables frequencies and percentages were calculated. Data were stratified by age, BMI, and marital status. Chi square was used for post-stratification, and a p value of less than 0.05 was considered significant.

A total of 195 adolescent girls with primary amenorrhea were enrolled in this study. The mean age of the study population was 14.38 ± 1.82 years. Majority of the individuals were in the age group 16-18 years 105(53.8%) followed by age group 12-15 years 90(46.1%). The mean body index of the participants was 26.30 ± 2.10 (Kg/m2). 183(93.8%) of the individuals were unmarried and 12(6.1%) were married as presented in table 1.Out of the total participants examined 20(10%) had developmental defects. Among these 20 individuals the most prevalent defect was absent vaginal functioning uterus 8(40%), followed by imperforate hymen 5(25%), MRKH Syndrome 4(20%) and transverse vaginal septum 3 (15%) respectively as shown in table 2.  Data was stratified by age, BMI and marital Status.  age groups 16-18 years  had 13.3%   of the  developmental defects and age group 12–15 year had  5.5% of  developmental defects, . The p-value of 0.105 indicates that there may be a possible rise in prevalence with age, even if there is no statistically significant difference. Regarding BMI, 5 (5.2%) of individuals with a BMI below 27 kg/m² had developmental problems, whereas 10 (10%) of those with a BMI >27 kg/m² did. A p-value of 0.228 suggests that there is no significant difference but rather a minor tendency toward fewer defects in people with higher BMIs. Marital status revealed that none of the married individuals had developmental defects, whereas 20(10.9%) of the unmarried individuals did. The p-value of 0.126 indicated no statistical association, though the lack of effects in married individuals may be due to other socioeconomic factors as shown in table 3.

The absence of menstruation by the age of 15 with secondary sexual features or by the age of 13 without such characteristics is known as primary amenorrhea. It is a complex disorder with important clinical and societal consequences.12 There are four main etiological categories for this condition: hormonal, structural, genetic, and idiopathic. Each of these groups presents particular challenges for the process of diagnosis and therapy.13 Hormonal reasons include hypergonadotropic hypogonadism, which is often associated with Turner syndrome or ovarian failure, and hypogonadotropic hypogonadism, which is caused by pituitary malfunction or a lack of gonadotropin-releasing hormone.14 Mullerian agenesis and imperforate hymen are examples of structural reasons that are congenital abnormalities that need to be accurately identified with modern diagnostic imaging.15 Genetic variables, such as androgen insensitivity Syndrome (AIS) and chromosomal abnormalities such as Turner syndrome are responsible for a considerable number of PA cases, highlighting the necessity of cytogenetic testing in clinical practice.16 An estimated 1–5% of teenage girls worldwide suffer from PA, with regional variations owing to genetic and environmental factors. Bangladesh faces particular difficulties in treating PA because of a significant number of nutritional deficiencies, restricted access to healthcare, and cultural stigmas associated with reproductive health.17 Specifically, research conducted in India have shown that up to 40% of those with PA had chromosomal abnormalities, making this location particularly high in frequency.18Furthermore, it is becoming more well acknowledged that Mullerian agenesis and hormonal disorders such polycystic ovarian syndrome (PCOS) are common causes of PA in southeast Asian countries.19 The present study was carried out to find out the frequency of primary amenorrhea due to developmental defects in adolescent girls. In the present study a total of 195 adolescent girls with primary amenorrhea were enrolled. Out of the total participants examined 20(10%) had developmental defects. Among these 20 individuals the most prevalent defect was absent vaginal functioning uterus 8(40%), followed by imperforate hymen 5(25%), MRKH Syndrome 4(20%) and transverse vaginal septum 3 (15%) respectively. The findings of our study are similar to the study conducted by Sattar et al in Pakistan .in their study Adolescent females who presented with primary amenorrhea had a frequency of developmental abnormalities of 11.0%, imperforate hymen of 26.4%, MRKH syndrome of 21.74%, transverse vaginal septum of 8.70%, and absent vaginal functional uterus of 43.48%.20 compared to the current findings, a study by Kim et al. on 1060 females with primary amenorrhea revealed an increased incidence (30.96%) of outflow tract abnormalities; the most common cause of these was Müllerian agenesis (26.1 7%), followed by gonadal dysgenesis (22.4%), imperforate hymen (2.57%), and transverse vaginal septum (0.47%).21 Another study by Bibi et al. in Pakistan supports this further. They found that Müllerian agenesis was the most common cause of primary amenorrhea in 60% of the females presenting with it, followed by the transverse vaginal septum and imperforate hymen (7% each).22 In our study age groups 16-18 years had 13.3% of the developmental defects and age group 12–15 year had 5.5% of developmental defects, which indicates that there may be a possible rise in prevalence with age. Regarding BMI, 5 (5.2%) of individuals with a BMI below 27 kg/m² had developmental problems, whereas 10 (10%) of those with a BMI >27 kg/m² did.it showed that people with higher BMIs a minor tendency toward. Marital status revealed that none of the married individuals had developmental defects, whereas 20(10.9%) of the unmarried individuals did. The p-value of 0.126 indicated no statistical association, though the lack of effects in married individuals may be due to other socioeconomic factors. The findings of current study are similar to the previous study.20 These findings have important therapeutic ramifications for enhancing primary amenorrhea early identification, diagnosis, and therapy, especially in groups with a higher risk of developmental abnormalities. When performing routine assessments for primary amenorrhea, health providers should think about include screening for developmental defects. Furthermore, our results underscore the necessity of focused educational initiatives to increase knowledge of primary amenorrhea, its causes, and available treatments. Furthermore, adding this information to treatment protocols can aid in developing a more individualized approach to care, which will eventually improve the impacted girls' reproductive health and quality of life. Limitations of the study Our study has certain limitations. It only looked at anatomical abnormalities and ignored other possible causes of primary amenorrhea, including environmental influences. Advanced genetic tests and hormonal evaluations, which may have offered a more thorough knowledge of the illness, were left out. Furthermore, the study used trans abdominal ultrasonography for diagnosis, which is effective but could miss some abnormalities that more sophisticated imaging modalities like MRI can identify.

Our study concluded that the prevalence of developmental defects in adolescent girls with primary amenorrhea was significantly high 10%. The most prevalent defect was absent vaginal functioning uterus followed by imperforate hymen.