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Title: TITLE : A RARE CASE OF PRIMARY AMENORRHEA,FEMALE WITH 46XY DSD (DISORDERS OF SEXUAL DEVELOPMENT)
e-poster Number: EP 033
Category: Miscellaneous
Author Name: Dr. Meena Tandi
Institute: SCBMCH,Cuttack
Co-Author Name:
Abstract :
Introduction : Disorders of sexual development (DSDs) refer to a group of conditions characterized by atypical development of chromosomal, gonadal, or anatomical sex. These disorders can result in variations in sexual differentiation, leading to ambiguous genitalia or discrepancies between an individual's genetic sex and their anatomical characteristics. DSDs can arise from genetic mutations, hormonal imbalances, or environmental factors, and they encompass a range of conditions, including congenital adrenal hyperplasia, androgen insensitivity syndrome, and Turner syndrome. Diagnosis often involves genetic testing, hormone assessments, and imaging studies, while management may include hormone therapy, surgery, and psychological support, tailored to the individual's needs and circumstances. Understanding DSDs is crucial for promoting awareness, reducing stigma, and ensuring appropriate care for affected individuals. Case description : My Patient Ratani Singh , 21 years female admitted to Department of obstetrics and gynaecology as a case of primary amenorrhea under evaluation with chief complaint of not attending menarche even after attending thelarche & adrenarche. On examination patient was conscious , oriented, afebrile. Vitals stable. USG & MRI shows absence of ovary & uterus but presence of rudimentary testis. Bilateral Laparoscopic Gonadectomy done. Hormone replacement therapy was planned with Estradiol .Patient transferred to endocrinology department for further management.They advised to take Estradiol valerate as it is of low cost. Conclusion : Diagnosis of Disorder of sexual development require through history taking, physical examination, internal examination, radiological examination & karyotyping.