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150 Bilateral gonadoblastoma in a case of Swyer’s syndrome
  1. Imen Hamra,
  2. Mariem Garci,
  3. Mehdi Makni,
  4. Ameni Abdeljabbar,
  5. Nabil Mathlouthi,
  6. Cyrine Belghith and
  7. Olfa Slimani
  1. Charles Nicole University Hospital, Tunis, Tunisia

Abstract

Introduction/Background Swyer syndrome is a rare condition that presents with individuals having female phenotypic characteristics, a 46, XY genotype and preserved Müllerian structures. The nonfunctional dysgenetic gonad in these individuals carries a risk of malignant transformation, including conditions such as dysgerminoma and gonadoblastoma.

In this report, we present a case of bilateral gonadoblastoma attributable to Swyer syndrome. The significance of this case lies in its rarity and highlights the crucial importance of accurate diagnosis in 46,XY women for appropriate management.

Methodology The report details the clinical characteristics, laboratory, imaging, histopathology, management and follow-up findings of a twenty year-old patient with Swyer’s syndrome. The case study and presentation were conducted with the patient‘s permission.

Results A twenty-year-old patient consulted for primary amenorrhea. Phenotypically, she had normal female external genital organs. However, her secondary sexual characteristics were underdeveloped for her age. Pelvic ultrasound of the patient revealed a hypoplastic uterus with no evidence of an ovary or testicle-like structure. Laboratory tests revealed hypergonadotropism and hypogonadism. Karyotyping revealed a 46, XY karyotype. Based on these features, the diagnosis of Swyer syndrome was established. For the etiological investigation, within the context of gonadal dysgenesis, we conducted a molecular study of the SRY gene, which did not reveal the presence of any pathogenic variants. The patient was planned for prophylactic laparoscopic gonadectomy. Bilateral salpingo-oophorectomy was performed, along with peritoneal washing cytology. The cytology of the ascites was negative and histopathological examination revealed gonadoblastoma in both gonads. After surgery, the patient was placed on hormone replacement therapy, vitamin supplementation, and received psychological support.

Conclusion While Swyer syndrome is a rare condition, it should be considered as a potential diagnosis in cases of primary amenorrhea. Early and accurate diagnosis is essential, as it allows for prompt gonadectomy to mitigate the increased risk of gonadal malignancy associated with Swyer syndrome.

Disclosures The authors have no conflicts of interest to declare. All co-authors have seen and agree with the contents of the manuscript and there is no financial interest to report. The case study and presentation were conducted with the patient‘s permission.

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