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Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome.

Abstract

Genetic alterations that involve the inner ear and other systems may present well-defined clinical differences. We present two oriental sisters, age 34 and 26 years, with a picture of primary amenorrhea and "infantile" uterus associated with progressive hearing loss begun in infancy in the older sister, and after 20 years of age in the younger sister. The gynecologic evaluation showed uterine hypoplasia and gonadal dysgenesis in both sisters. The audiologic study showed bilateral sensorineural hearing loss with a flat-type curve in both cases, with an average threshold of 500, 1000 and 2000 Hz (PTA) in 80 dB (older sister) and 60 dB (younger sister), with recruitment measured by stapedial reflex in the second case. Vocal discrimination was 30 percent and 80 percent, respectively. The clinical picture fits Perrault's syndrome: recessive autosomal genetic alteration, with XX gonadal dysgenesis and sensorineural hearing loss.

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  • Authors+Show Affiliations

    ,

    Department of Audiology, University of São Paulo, School of Medicine, Brasil.

    ,

    Source

    The American journal of otology 13:1 1992 Jan pg 82-3

    MeSH

    Abnormalities, Multiple
    Adult
    Female
    Genes, Recessive
    Gonadal Dysgenesis
    Hearing Loss, Sensorineural
    Humans
    Syndrome
    Uterus

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    1598993

    Citation

    Cruz, O L., et al. "Sensorineural Hearing Loss Associated to Gonadal Dysgenesis in Sisters: Perrault's Syndrome." The American Journal of Otology, vol. 13, no. 1, 1992, pp. 82-3.
    Cruz OL, Pedalini ME, Caropreso CA. Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome. Am J Otol. 1992;13(1):82-3.
    Cruz, O. L., Pedalini, M. E., & Caropreso, C. A. (1992). Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome. The American Journal of Otology, 13(1), pp. 82-3.
    Cruz OL, Pedalini ME, Caropreso CA. Sensorineural Hearing Loss Associated to Gonadal Dysgenesis in Sisters: Perrault's Syndrome. Am J Otol. 1992;13(1):82-3. PubMed PMID: 1598993.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome. AU - Cruz,O L, AU - Pedalini,M E, AU - Caropreso,C A, PY - 1992/1/1/pubmed PY - 1992/1/1/medline PY - 1992/1/1/entrez SP - 82 EP - 3 JF - The American journal of otology JO - Am J Otol VL - 13 IS - 1 N2 - Genetic alterations that involve the inner ear and other systems may present well-defined clinical differences. We present two oriental sisters, age 34 and 26 years, with a picture of primary amenorrhea and "infantile" uterus associated with progressive hearing loss begun in infancy in the older sister, and after 20 years of age in the younger sister. The gynecologic evaluation showed uterine hypoplasia and gonadal dysgenesis in both sisters. The audiologic study showed bilateral sensorineural hearing loss with a flat-type curve in both cases, with an average threshold of 500, 1000 and 2000 Hz (PTA) in 80 dB (older sister) and 60 dB (younger sister), with recruitment measured by stapedial reflex in the second case. Vocal discrimination was 30 percent and 80 percent, respectively. The clinical picture fits Perrault's syndrome: recessive autosomal genetic alteration, with XX gonadal dysgenesis and sensorineural hearing loss. SN - 0192-9763 UR - https://wwww.unboundmedicine.com/medline/citation/1598993/Sensorineural_hearing_loss_associated_to_gonadal_dysgenesis_in_sisters:_Perrault's_syndrome_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=1598993.ui DB - PRIME DP - Unbound Medicine ER -