The Perrault Syndrome Mystery: A Case Report on Its Diagnosis in a 26-Year-Old Female

Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and ovarian dysfunction in females with a 46, XX karyotype. Due to its rarity and diagnostic challenges, herein we report on a 26-year-old woman who presented with secondary amenorrhea, congenital deafness in one ear, and progressive hearing loss in the other. Physical examination showed poorly developed breasts and normal external genitalia. Lab tests revealed high follicle-stimulating hormone (FSH) levels, indicating ovarian failure. Imaging revealed a small uterus and streak ovaries without follicular activity. Initially misdiagnosed with various overlapping syndromes such as Turner, Turner mosaic, and Swyer syndromes, she was started on oral contraceptive pills which induced menstruation and minimal breast development but caused mood swings and depression, leading to inconsistent use. Later, karyotyping revealed a normal 46,XX karyotype, shrouding the case in mystery. A few years later, after additional investigations, her hearing loss and reproductive disruptions were connected, and she was diagnosed with PRLTS. The absence of neurological symptoms suggests type I PRLTS. This case underscores the diagnostic challenges of PRLTS and highlights the importance of genetic testing for accurate diagnosis. It also emphasizes the need for a multidisciplinary approach and further research to improve understanding and management of this rare condition.