Endocrine Abstracts

Introduction: Amenorrhea is a frequent cause of Endocrinology clinic attendances. While causes like menopause, thyroid disorders and hyperprolactinemia are common, less common aetiologies need to be considered, especially the inherited ones that could affect a patient’s family. Identifying rare conditions requires constant vigilance, as well as clinical experience and the knowledge of the diagnostic criteria.

Case report: We report the case of a 39-year-old female that attended our Endocrinology clinic for secondary amenorrhea since the age of 29 years and hypergonadotropic hypogonadism due to premature ovarian failure. Her parents are first cousins, she has also married her first cousin whose parents are distant cousins. She was diagnosed with bilateral sensorineural hearing loss at the age of five years requiring cochlear implant, and her son suffered from autistic spectrum disorder and bilateral sensorineural hearing loss at a young age as well. Perrault’s Syndrome was highly suspected, and genetic testing revealed two alterations in the HARS2 gene which is linked to Perrault’s syndrome. She was found to have small ovaries on ultrasound and bone densitometry revealed normal bone density. The Clinical Genetics team is arranging genetic counselling and testing for her family.

Conclusion: Perrault’s syndrome is a rare condition that is inherited in an autosomal recessive pattern, resulting in ovarian dysgenesis and bilateral sensorineural hearing loss. The spectrum of this condition also includes cerebellar ataxia, motor-sensory peripheral neuropathy, and learning difficulties. The management of these cases includes the management of its manifestations, with no available treatments or gene therapy yet. Identifying carriers of autosomal recessive disorders within families is crucial for understanding the likelihood of passing on the condition to future generations.