A rare case of primary amenorrhea with swyer syndrome : "A case report"

<p><strong>Background:</strong> Swyer syndrome is seen in females with primary amenorrhea, unambiguous female genital appearance, normal vagina, and cervix but XY karyotype. It is characterized by bilateral streaky ovaries, hypoplastic infantile uterus, normally developed Mullerian structures, and hypergonadotropic hypogonadism.  Affected individuals usually have a uterus and fallopian tubes, but their gonads are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. </p> <p><br /><strong>Case Presentation:</strong> A 17-year-old girl presented with primary amenorrhea visited our clinic. Family history and the age at diagnosis were collected. After obtaining consent, a physical examination for secondary sexual characteristics was done. Initial laboratory tests like Thyroid profile, FSH, LH, and Estradiol for evaluating primary amenorrhea were investigated. Radio diagnosis to find uterine and ovaries size was done. Karyotyping and Fluorescent In situ Hybridization (FISH) tests were done to find the genotype of the girl. Parents of the affected child have a history of second-degree consanguineous marriage. The child’s height was 167 cm and weighed 44 kg. On examination, breasts were in tanner stage 2, with absent axillary hair but well-developed pubic hair. External genitalia was of the female type, per vaginal examination was normal and the cervix was small.</p> <p><br /><strong>Conclusion:</strong> The purpose of reporting this case is to have a rare clinical condition and to know the importance of chromosome pattern XY female for appropriate management as there is a high chance of gonadal malignancies if undetected. Also, to counsel about fertility-related problems. importance of chromosome pattern XY female for appropriate management as there is a high chance of gonadal malignancies if undetected. </p>