Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc

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).

摘要

Perrault综合症是一种罕见的常染色体隐性遗传疾病, 男性和女性都会发生。该综合征会导致男性耳聋, 但女性表现出性腺发育障碍性不孕, 并伴有感音神经性耳聋。在此, 我们报告一位27岁的女性患者, 她是聋哑人合并原发性闭经。激素检测显示高促性腺激素性闭经, 染色体核型为46xx。盆腔超声提示子宫发育不良和卵巢呈条索状。脊柱MRI显示椎间盘退行性变和Tarlov囊肿。整个外显子组测序发现LARS2突变, 患者被诊断为Perrault综合征4型(PRLTS4)。

The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Keywords:

• Primary amenorrhea
• primary infertility
• Perrault syndrome
• sensorineural hearing loss
• bilateral ovarian dysgenesis
• hypo plastic uterus
• Tarlov cyst
• degenerative disc

Disclosure statement

No potential conflict of interest was reported by the authors.