Perrault syndrome: a forgotten presentation for infertile women

Perrault syndrome (PRLTS) is an uncommon hereditary condition distinguished by ovarian failure in females and sensorineural hearing loss. Infertility can be the presenting problem for a serious disease. History and physical examination is very essential among infertile couples.

Perrault syndrome (PRLTS) is an uncommon hereditary condition distinguished by ovarian failure in females and sensorineural hearing loss. This case presentation describes a 22-year-old female from Saudi Arabia with PRLTS. The patient presented with progressive bilateral hearing loss since childhood, impacting her academic achievement. Additionally, she experienced amenorrhea since the age of 18 years, with previous investigations showing no hormonal imbalances. Other laboratory tests, including bone mineral density, kidney and liver function, electrolytes, and lipid profile, showed mostly normal results, except for a slightly abnormal lipid profile with low high-density lipoprotein and high low-density lipoprotein levels. This case highlights the challenges faced by individuals with PRLTS, specifically progressive hearing loss and gonadal dysfunction, leading to infertility. Further evaluation and management are warranted to address the patient's hearing impairment and fertility concerns, with a multidisciplinary approach involving audiology, endocrinology, and reproductive medicine.