Perrault Syndrome – A Rare Case Report

Abstract

An 18-year-old female presented to the outpatient department with history of not attaining menarche. She was deaf mute since birth. She was the eldest child of the family. She was born to parents of consanguineous marriage. Her younger brother aged 16-year-old was 156 cms tall and had normal speech, hearing and age appropriate development of secondary sexual characters. Her mother was 164 cms tall and had attained menarche at 15 y. There was no history of similar complaints or any other significant medical disease in the family.On examination, she had high arched palate, her height was 146 cm, her arm span (153 cm) was more than her height with no other marfanoid features. The patient had poorly developed breasts (Tanner stage 2), sparse pubic and axillary hair (Tanner stage 2). She had normal external genitalia. Her vitals were normal. Internal Medicine SectionPerrault Syndrome -A Rare Case Report ABSTRACTPerrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfanoid habitus and central nervous system findings have also been reported. Herein we report a case of sporadic Perrault syndrome in 18-year-old female who presented to our hospital with deaf mutism and primary amenorrhoea. On evaluation, the patient had hypergonadotropic hypogonadism, streak gonads and a normal karyotype (46 XX). Audiologic evaluation showed sensorineural deafness. The patient was started on hormone replacement therapy. She is on regular follow up. We present this case for its infrequent incidence and also to add to the ever expanding clinical spectrum of this disease.

Expanding the genotypic spectrum of Perrault syndrome

“…Perrault syndrome (MIM 233400) is a rare autosomal recessive disorder . Approximately 40 families worldwide have been reported . The syndrome is characterized by sensorineural hearing loss (SNHL) in both sexes and primary ovarian insufficiency (POI) in 46, XX karyotype females .…”

<b>A Comprehensive</b> <b>Review on Inherited Sensorineural Hearing Loss and Their Syndromes</b>

“…The relationship of abnormal development of gonads and deafness was studied in 1951 for the first time and later termed as Perrault syndrome [234]. It is a rare disorder consisting of abnormal gonadal development such as ovarian abnormalities with SNHL in affected females [235,236], and only deafness in men [237]. So far, about 40 females globally were reported in different studies with this autosomal recessive disorder [235,238].…”

“…It is a rare disorder consisting of abnormal gonadal development such as ovarian abnormalities with SNHL in affected females [235,236], and only deafness in men [237]. So far, about 40 females globally were reported in different studies with this autosomal recessive disorder [235,238]. Intellectual abnormalities, cerebellar ataxia, motor and sensory peripheral neuropathies were reported in some females with this syndrome.…”

A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

“…Since PRLTS is a rare disease, there are only approximately 40 PRLTS families reported worldwide [ 13 ], among which three cases were possibly caused by mutations in HSD17B4 [ 5 , 9 , 14 , 15 ].…”