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Endocrine Abstracts (2022) 81 EP899 | DOI: 10.1530/endoabs.81.EP899

Rabta Hospital, Endocrinology Department, Tunis, Tunisia


Introduction: Perrault syndrome is a rare autosomal recessive disorder defined by the association of 46XX ovarian dysgenesis and neurosensory deafness. Other manifestations may be present, in particular cerebellar and/or peripheral neuronal degenerative disease. we report the case of Perrault syndrome in a 15-year-old Tunisian girl.

Observation: A 15-year-old girl was referred to our department for pubertal delay. She had a congenital deafness and epilepsy diagnosed at one year old and she was on sodium valproate. Physical examination showed a body weight of 45 kg (between -1 and -2SD), a body height of 1.62 m (between mean and -1 SD), Tanner scale was B1P2. Hormonal investigation showed an hypergonadotrophic hypogonadism (FSH= 153 UI/l (1-17) and LH=34 mUI/l (0,5-41,7)). Pelvic ultrasound showed an infantile uterus. Ovaries were not visible. A complementary pelvic MRI confirmed the absence of ovaries and the hypoplastic uterus. Karyotype was 46XX and the genetic study showed the absence of the GJB2 gene mutation. The diagnosis of Perrault syndrome was confirmed. The electromyography was normal and cerebral MRI showed white matter demyelination. The patient was treated with estrogen and progesterone to induce puberty.

Conclusion: We report this case because of its rarity as few cases have been reported in Tunisia so far in the literature. The prevalence of Perrault syndrome is poorly known, often under diagnosed because of the phenotypical and genetic heterogeneity of this syndrome.

Volume 81

European Congress of Endocrinology 2022

Milan, Italy
21 May 2022 - 24 May 2022

European Society of Endocrinology 

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