ESPE Abstracts

Background: Perrault syndrome (PS) is a rare autosomal recessive condition characterized by sensorineural deafness and gonadal dysgenesis in females. The most commonly reported additional manifestations are neurologycal, including mental retardation, cerebellar hypoplasia, and neuropathy.

Objective and hypotheses: Although sensorineural hearing impairment and ovarian dysgenesis are the cardinal signs of PS in females, PS is a genetically and clinically heterogeneous disorder and its pathogenetic basis is still unclear. We present a case of Perrault syndrome in a girl with ovarian dysgenesis and normal karyotype.

Method: A 12-year-old girl referred to our department with thyroid dysfunction. She was the first child of non-consanguineous parents. Her height was 139 cm (<3.p), weight 31 kg (3.p), height SDS −2.93, and her vitals were normal. She had mental retardation and hearing loss. She had normal external genitalia and she was prepubertal, other systems were normal. Her hemogram, blood glucose, renal and liver function tests were normal. Levels of free-thyroxine 1.29 ng/dl and TSH 8.4 μIU/ml were consistent with subclinical hypothyroidism. Thyroid ultrasound and metabolic screening were normal. She had low levels of estradiol (5.7 pg/ml) and elevated gonodotropins (FSH 119.7 mIU/ml; LH 34.8 mIU/ml) considered primary ovarian insufficiency.

Results: Pelvic ultrasound showed atrophic uterus and ovaries were not visualised. Her karyotype was 46,XX. She was diagnosed with ovarian dysgenesis. Brain MRI showed vermis hypoplasia. Audiometric evaluation revealed of bilateral sensorineural deafness and completed the diagnosis of PS.

Conclusion: PS is a rare cause of ovarian dysgenesis, but should be considered in a girl with deafness. It has been identified mutations in CLPP, HARS2, and LARS2 genes, but no definitive gene mutation for PS and further studies are needed to establish of the underlying molecular defect. However, PS can be diagnosed by a careful clinical evaluation.