Introduction: Perrault syndrome (PS) is a rare disease characterized by a premature ovarian failure (with primary or secondary amenorrhea) and a sensorineural deafness. In this context we report the case of two sisters issuing from consanguineous parents presenting the association of these two anomalies.
Cases: The reason for consultation was primary amenorrhea in both cases at age 16 and 21 years respectively, on examination the assessment of their tanner stage was S1P2A2 and both girls also suffer from congenital deaf-mutism and a strictly normal clinical examination, in particular their neurological state because some neurological features are often described such as cerebral ataxia, neuropathy, mild development delay or oculocomotor disorders in Perrault Syndrome. The hormonal exploration objectified a typical profile with hyper-gonadotropic hypogonadism and their karyotypes highlight a chromosomal formula compatible with gonadal dysgenesis 46 XX. The pelvic ultrasound confirms the absence of ovaries in both cases and the presence of a hypoplastic uterus. An additional medical imaging by cerebral magnetic resonance in the second daughter shows the presence of signs of cerebral leukodystrophy without clinical manifestations from where the interest a regular follow-up of the patient with neurologic examination and repeated audiograms could allow detecting precociously a deafness or neurologic troubles which could appear later on Perrault syndrome.
Conclusion: Perrault syndrome is a heterogeneous disorder, which is an agreement with different etiological mechanisms. And this syndrome is underestimated in adult patients. We suggest performing an audiogram to patients with unknown origin of premature ovarian failure, particularly in case of neurological features or history of familial sensorineural deafness.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology