Table 3. [Recommended Evaluations Following Initial Diagnosis in Individuals with Perrault Syndrome]. - GeneReviews®

System/Concern	Evaluation	Comment
ENT 1	Audiologic assessment	To define the degree & frequency range of hearing impairment by audiometry & physiologic tests (summarized in Hereditary Hearing Loss and Deafness Overview)
Neurologic ¹	Neurologic assessment	Determine if ataxia, peripheral neuropathy, &/or learning disability is present.
Endocrine ²	Serum estrogen & gonadotropin (LH & FSH) concentrations	In women w/relatively intact ovarian function, serum anti-müllerian hormone concentrations may provide evidence of incipient ovarian failure. ³
Pelvic imaging	Ultrasound scan or magnetic resonance imaging to define the presence of ovaries & antral follicle count
Miscellaneous/ Other ¹	Consultation w/clinical geneticist &/or genetic counselor

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