Rare case of complete gonadal dysgenesis in a female patient with primary amenorrhea and a 46XY karyotype

Abstract

Key Clinical Message A comprehensive diagnostic approach is crucial for patients with primary amenorrhea and short stature. Karyotyping and imaging studies help to detect hidden chromosomal abnormalities and anatomical differences, emphasizing their value in this context. Abstract A 16‐year‐old girl with absent menstruation and short stature. Further examination revealed constitutional stunting and primary amenorrhea. Karyotyping revealed a 46, XY chromosomal abnormality, whereas pelvic ultrasonography showed uterine hypoplasia and a unicornuate uterus with a rudimentary horn. After 11 months of therapy, she experienced menarche and improved secondary sexual characteristics.

Keywords

• gonadal dysgenesis
• karyotype 46, XY
• primary amenorrhea
• Swyer syndrome
• uterine hypoplasia