Swyer Syndrome: A diagnostic challenge

TL;DR

Swyer syndrome is a rare condition where individuals with a male karyotype have a female appearance and infertility due to gonadal dysgenesis.

Contribution

The paper presents a case of Swyer syndrome in a 32-year-old woman and highlights the importance of chromosomal analysis for diagnosis.

Findings

A 32-year-old woman with a 46XY karyotype presented with primary amenorrhea and a female phenotype.

Laparoscopy revealed a small uterus, a rare finding in Swyer syndrome.

The patient's sisters also showed similar symptoms and were scheduled for laparoscopy.

Abstract

Swyer syndrome, represents a rare manifestation of primary amenorrhea arising
from gonadal dysgenesis. This syndrome is distinguished by the manifestation of
a female phenotype despite a 46, XY karyotype. We present the case of a patient
aged 32 the second of three sisters; consulted for the first time with a main
complaint of primary unexplored amenorrhea responsible for infertility of 1 year
with a female phenotype and a male karyotype: 46XY. The laparoscopy performed
revealed the presence of a small uterus (an unexpected finding for a feminizing
testicular syndrome). The other sisters were respectively examined and found to
have the same pathology as their sister and were eventually programmed to have a
laparoscopy. 46XY pure gonadal dysgenesis, commonly known as Swyer syndrome,
presents as a rare disorder in sexual development. Despite having a 46XY
karyotype, affected individuals exhibit a female phenotype. The underlying cause
is believed to stem from mutations and deletions affecting the Sex Determining
Region Y (SRY) gene located on the short arm of the Y chromosome. Swyer syndrome
should be considered in cases of primary amenorrhea with the presence of a
uterus. Chromosomal analysis is essential for confirming the diagnosis.

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