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Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome.
Am J Otol 1992; 13(1):82-3AJ

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.

Authors+Show Affiliations

Department of Audiology, University of São Paulo, School of Medicine, Brasil.No affiliation info availableNo affiliation info available

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 -