A 25-year-old unmarried girl comes to the endocrinology OPD with history of amenorrhea for past 7 months. Her menarche happened at the age of 13 years. She has no other complaints except for mild lethargy or fatigue. She has no known endocrinological problem. She complains of some occasional episodes of sweating and palpitations. She has no complaints of headache or any visual disturbances. She has no complaints of vomiting or any change in weight. She does not give any history of any drug intake. She has not taken any treatment for amenorrhea till now. She has not undergone any gynecological procedures till now. Prior to seven months, her menses were regular. Her mother is concerned about her amenorrhea as she is getting married next month and her future conception prospects. Her height is 160 cm and her predicted height is 158 cm. Her weight is 60 kg. She has normal secondary sexual characters development. She has no features of virilization. She has no similar history in the family and she has no hirsutism or acne. She has no galactorrhea.
What is Perrault syndrome?
Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females, and ovarian dysfunction in females. The SNHL is bilateral and ranges in severity from moderate with early-childhood onset to profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) mani- festing as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some affected women include developmental delay or intellectual disability, cerebellar ataxia, and motor and sensory peripheral neuropathy.
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