Endocrine Abstracts

Introduction

Perrault syndrome is a rare recessive autosomal degenerative disease defined by the combination of ovarian dysgenesis 46XX with sensorineural deafness. Other manifestations can expand the clinical picture, particularly a cerebellar degeneration and/or peripheral neuronal sensitivo-motor.

Observation

We have reported a 14 years old patient case, from a 2nd degree consanguineous marriage with perceptive bilateral deafness history, who has consulted for impuberal primary amenorrhea, the clinical examination did not show a particular dysmorphic syndrome nor retardation, Limitation of the laterality of the gaze in abduction, hyper ligamentous laxity of the fingers. The biological exploration revealed a hyper gonadotropic hypogonadism as well as normal 46 XX karyotype, this eliminates Turner’s syndrome. The abdominal ultrasound showed ovarian atrophy with a prepubescent tubular uterus.

Discussion

The diagnosis of Perrault syndrome has been made in the presence of hyper gonadotropic hypogonadism, an ovarian imaging atrophy, a normal karyotype with bilateral congenital neurosensory deafness; however, the spectrum of the disease is wide, the neurological exploration must be systematic to the search for neuronal and/or cerebellar degeneration, for this reason, an EMG as well as a brain MRI are programmed for our patient. In the absence of gene therapy, hormone replacement therapy represents the only hope today, the patient has received oestrogen treatment then oestroprogestative with a good clinical evolution.