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

## TL;DR

This case report describes a rare genetic condition called Swyer syndrome in a 16-year-old girl, highlighting the importance of early diagnosis and management.

## Contribution

The report presents a new case with atypical features, such as partial pubertal development and short stature, which can delay diagnosis.

## Key findings

- The patient had a 46, XY karyotype with a female phenotype and hypergonadotropic hypogonadism.
- Laparoscopic examination revealed bilateral striated gonads, which were removed due to cancer risk.
- Early diagnosis and treatment, including hormone therapy and psychological support, are crucial for better outcomes.

## Abstract

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.