Department of Obstetrics and Gynecology, King Fahad Medical City, Riyadh, Saudi Arabia.
Reproductive Endocrine and Infertility Medicine Department, King Fahad Medical City, Riyadh, Saudi Arabia.
Gynecol Endocrinol. 2019 Dec;35(12):1037-1039. doi: 10.1080/09513590.2019.1637407. Epub 2019 Jul 5.
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 ().
佩罗特综合征是一种罕见的常染色体隐性遗传病，可影响男性和女性。该综合征导致男性耳聋，而女性则表现为性腺发育不良伴感音神经性听力损失。本文报道了一位 27 岁的女性患者，其表现为耳聋、聋哑和原发性闭经。激素检测显示促性腺激素性性腺功能减退症，核型为 46 XX。盆腔超声显示子宫发育不良和条索状卵巢。脊柱 MRI 显示退行性椎间盘和 Tarlov 囊肿。全外显子组测序发现 LARS2 突变，患者被诊断为四型佩罗特综合征（）。
