THE RELATION BETWEEN SEROLOGICAL HEPATOCYTE NUCLEAR FACTOR 1B (HNF 1B) GENE WITH GENITAL TRACT ANOMALIES

Background: The hepatocyte nuclear factor 1B (HNF1B) gene are associated with various developmental anomalies, particularly in the genitourinary tract. This study evaluates the relation between serological HNF1B gene with genital tract anomalies. Patients and Methods: This cross sectional study was conducted at Baghdad Teaching Hospital from December 2023 to November 2024. A total of 50 participants with genital tract anomalies were screened for hepatocyte nuclear factor 1B ( HNF1B) gene using 5ml from blood sample collected from participants for genetic analysis. Clinical and demographic data, also biochemical and imaging tests, were collected and analysed. Results: Among the participants, the most common anomalies were imperforate hymen (44%) and uterine agenesis with the absence of the upper two-thirds of the vagina (36%). HNF1B levels were statistically significantly in cases of ambiguous genitalia (p < 0.0001) and uterine agenesis (p = 0.004). However, no significant association was observed for other anomalies like high vaginal septum or cervical agenesis. Conclusion: There is a significant association between serological hepatocyte nuclear factor 1B (HNF1B) gene and certain congenital genital tract anomalies, particularly uterine agenesis and ambiguous genitalia, with elevated HNF1B levels observed in these conditions.