Perrault Syndrome: A Rare Cause of Primary Amenorrhoea
Journal Title: Indian Journal of Genetics and Molecular Research - Year 2017, Vol 6, Issue 1
Abstract
Perrault syndrome is an autosomal recessive disorder with sensorineural hearing loss in both female and male, and gonadal dysgenesis in female only. We present here a case which presented to our gynae department with complain of primary amenorrhoea. She was congenitally deaf and mute, born out of non consanguinous marriage. She had delayed developmental milestones. On examination she had delayed pubertal development with normal external genitalia. Pelvic sonogram showed hypoplastic uterus with streak gonad. Hormonal tests revealed hypergonadotrophichypogonadism (raised FSH with low estradiol). Karyotype was normal (46 XX). Audiology showed profound bilateral sensorineural hearing loss. MRI brain showed demyelination in deep white matter and periventricular region of parietal and occipital lobes.
Authors and Affiliations
Nitisha Lath
Keywords
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- EP ID EP462365
- DOI 10.21088/ijgmr.2319.4782.6117.4
- Views 90
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