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Introduction <p>Swyer syndrome is a rare condition of complete gonadal dysgenesis due to mutations in the Y chromosome SRY gene, leading to testicular underdevelopment. In this condition individuals present with a female phenotype despite having a male karyotype (46, XY).</p> Method and Materials <p>This retrospective review of five cases of Swyer Syndrome at our centre since 2013.</p> Results <p>All five patients, raised as girls, presented at 18-31 years with primary amenorrhea; one had hyposmia. Breast development ranged from Tanner stage 1-4 with varying axillary hair. Internal exams showed an infantile uterus and cervix. Imaging revealed small to normal uterus and streak gonads. Elevated serum FSH and low testosterone confirmed the diagnosis (46, XY karyotype). Three patients underwent laparoscopic gonadectomy due to gonadoblastona risk; two were lost to follow-up. All received Estrogens and Progesterone replacement therapy development of secondary sexual characters.</p> Conclusions <p>Swyer syndrome requires high clinical suspicion for diagnosis. Early identification allows timely hormone therapy and consideration of gonadectomy to prevent gonadoblastona.</p>

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“Rare but Not Forgotten Five Cases of Swyer Syndrome”: Case Series and Literature Review

  • 期刊论文

  • 发表日期：

    2025年8月21日

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  • Pushplata Kumari,
  • Minakshi Kumari,
  • Madhurima Barik,
  • Lilly Varghese

摘要

Introduction

Swyer syndrome is a rare condition of complete gonadal dysgenesis due to mutations in the Y chromosome SRY gene, leading to testicular underdevelopment. In this condition individuals present with a female phenotype despite having a male karyotype (46, XY).

Method and Materials

This retrospective review of five cases of Swyer Syndrome at our centre since 2013.

Results

All five patients, raised as girls, presented at 18-31 years with primary amenorrhea; one had hyposmia. Breast development ranged from Tanner stage 1-4 with varying axillary hair. Internal exams showed an infantile uterus and cervix. Imaging revealed small to normal uterus and streak gonads. Elevated serum FSH and low testosterone confirmed the diagnosis (46, XY karyotype). Three patients underwent laparoscopic gonadectomy due to gonadoblastona risk; two were lost to follow-up. All received Estrogens and Progesterone replacement therapy development of secondary sexual characters.

Conclusions

Swyer syndrome requires high clinical suspicion for diagnosis. Early identification allows timely hormone therapy and consideration of gonadectomy to prevent gonadoblastona.