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Case Report

Perrault Syndrome: A Rare Cause of Primary Amenorrhoea

Pratibha Singh, Professor, Department of Obstetrics & Gynaecology, All India Institute of Medical Sciences, Jodhpur, Rajasthan 342005, India. , Nitisha Lath* , Pratibha Singh** , Kuldeep Singh***

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Indian Journal of Genetics and Molecular Research 6(1):p 23-25, January - June 2017. | DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.6117.4

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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.

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DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.6117.4

Keywords

Hypogonadism; Sensorineural Hearing Loss; Amenorrhoea.

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