Blood Karyotyping, Anti-Müllerian Hormone Level, SRY Gene, and Clinical Evaluation in Patients Reared as Female Presented with Müllerian Duct Agenesis

Abstract

Background: A range of congenital abnormalities in phenotypic females presenting with primary amenorrhea are represented by Müllerian Duct Agenesis (MDA), which includes Mayer Rokitansky Küster Hauser (MRKH) syndrome. It's crucial to distinguish these illnesses from other Disorders of sex Developments (DSDs) conditions to diagnose, treat, and provide psychosocial care.Aim: The present study was carried out to investigate the correlation between blood karyotyping, Anti-Müllerian Hormone (AMH) level, Sex-determining Region of Y chromosome (SRY) gene, and clinical evaluation in patients reared as females and presented with MDA to make an accurate diagnosis and direct treatment plans.Method: This prospective case-control study assessed karyotype, AMH levels, the presence of the SRY gene, and clinical characteristics in 20 females with MDA and 20 age-matched healthy controls (categorized into four groups on age basis). The STROBE guidelines for reporting observations have been adhered to in the study design.Result: AMH levels showed age-related trends, with elevated values in infants and adults. Two-way ANOVA revealed significant effects of group (F(1,47) = 42.70, p < 0.0001), age (F(3,47) = 8.70, p <0.001), and their interaction (F(3,47) = 8.89, p < 0.001). Point-biserial correlation revealed a significant positive association with an abnormal karyotype (r = 0.62, p = 0.003) and a high positive association between AMH and SRY positivity (r = 0.83, p < 0.00001). These findings indicate that combined genetic and hormonal markers effectively distinguish MDA patients from controls. Moreover, the absence of Müllerian structures despite maintained ovarian function was confirmed in patients with the 46, XX karyotype, negative SRY, and normal AMH, which were consistent with MRKH. An androgen receptor deficiency led to the diagnosis of Complete Androgen Insensitivity Syndrome (CAIS) in cases with the following characteristics: female phenotype, high AMH, SRY positive, absence of Müllerian structures, and 46, XY karyotype. Turner syndrome, which manifested as gonadal dysgenesis and low AMH, was confirmed in a subset of individuals with a 45, X karyotype and negative SRY. These differences demonstrated how karyotyping, AMH levels, and SRY tests can work together to provide differential diagnosis.Conclusion: In patients raised as females with primary amenorrhea, blood karyotyping, AMH level, and SRY gene analysis are trustworthy methods for distinguishing between MDA, MRKH, CAIS, and Turner syndrome. Therefore, correct categorization guarantees the right psychological and social support in addition to directing clinical treatment, such as gonadectomy, hormonal therapy, or fertility counselling. For optimal long-termoutcomes, multidisciplinary intervention at an early stage is advised.