Clinical Presentation and Management of Swyer Syndrome: A Case Report.

A pure 46, XY gonadal dysgenesis, or Swyer syndrome, is an extremely rare condition causing primary amenorrhea. It is distinguished by the existence of a female phenotype with a 46, XY karyotype. Reports of new cases are essential to improve early diagnosis and management. We present a case of a 16-year-old Moroccan girl with pubertal delay. The patient exhibited a female, partially developed morphology with Tanner stage 2 secondary sexual characteristics, and a hormonal profile consistent with hypergonadotropic hypogonadism. Morphological evaluation revealed the presence of a uterus and vaginal cavity without visualization of the ovaries. Chromosomal analysis confirmed the diagnosis of Swyer syndrome. A laparoscopic operation revealed bilateral striated gonads, which had to be removed because of the risk of malignancy. Following the operation, estrogen-only pubertal induction was initiated, followed later by progesterone. The case highlights the importance of considering Swyer syndrome in adolescent girls presenting with primary amenorrhea and delayed puberty. Our report features atypical characteristics, including partially spontaneous pubertal development and pronounced short stature, which may delay both diagnosis and treatment. Nevertheless, earlier diagnosis and comprehensive management, including early gonadectomy, hormone replacement therapy, and psychological support, remain essential for optimal outcomes.