Abstract 47: Short stature with primary amenorrhea and deafness: Beyond turner's syndrome

Perrault syndrome is a rare disorder, with autosomal recessive mode of inheritance, comprising of pure gonadal dysgenesis and sensorineural hearing loss in female and only sensorineural hearing loss in male. Less than 100 cases are reported in literature. Here, we report a case of Perrault syndrome in a 15-year female, born of consanguineous union, presented with deaf mutism, primary amenorrhoea and short stature. She has 2 younger male siblings who are also deaf and mute. On evaluation she had short stature with hypergonadotrophic hypogonadism with bilateral radioulnar joint dislocation with proxmal radial head dislocation, 46XX karyotype, with no cardiac abnormality. Other siblings are normal in height for age. Audiologic examination of 3 siblings revealed bilateral sensorineural hearing loss. Whole exome sequencing was done, which confirms our clinical diagnosis of Perrault syndrome. The patient was started on hormone replacement therapy and on regular follow up. We, present this case, due to infrequent incidence and also due to close differential of Turner syndrome. [INLINE:1]