Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc. (2nd December 2019)

• Record Type: Journal Article
• Authors: Al-Jaroudi, Dania; Enabi, Saed; AlThagafi, Malak Sameer
• Is Part Of: Gynecological endocrinology. Volume 35:Number 12(2019)
• Page Start: 1037
• Page End: 1039
• Publication Date: 2019-12-02
• Subjects: Primary amenorrhea -- primary infertility -- Perrault syndrome -- sensorineural hearing loss -- bilateral ovarian dysgenesis -- hypo plastic uterus -- Tarlov cyst -- degenerative disc; Endocrine gynecology -- Periodicals; Generative organs, Female -- Diseases -- Periodicals; 618.1
• DOI: 10.1080/09513590.2019.1637407
• Languages: English
• ISSNs: 0951-3590

Abstract

Abstract: Perrault syndrome is a rare autosomal recessive disorder that affects both males and females. The syndrome causes deafness in males, however females display gonadal dysgenesis along with sensorineural hearing loss. Herein, we present a 27-year-old female patient who is deaf and mute along with primary amenorrhea. Hormonal assays revealed hypergonadotropic hypogonadism and the karyotype was 46 XX. Pelvic ultrasound described a hypoplastic uterus and streak ovaries. MRI of the spine showed degenerative discs and Tarlov cysts. Whole exome sequencing identified a LARS2 mutation and the patient was diagnosed with Perrault syndrome type four ( PRLTS4 ).