HYPERGONADOTROPIC HYPOGONADISM,
PROGRESSIVE EARLY-ONSET SPINOCEREBELLAR ATAXIA,
AND LATE-ONSET SENSORINEURAL HEARING LOSS:
CASE REPORT AND LITERATURE REVIEW
Sarikaya E,1 Ensert CG,2 Gulerman HC1
*Corresponding Author: Esma Sarikaya, Centre for Reproductive Medicine, Zekai Tahir Burak Women’s
Health Research and Education Hospital, Talatpasa Bulvari Hamamonu 06230, Ankara, Turkey; Tel.: +90-312-
310-3100; Fax: +90-312-312-4931; E-mail: sudesarikaya@hotmail.com
page: 77
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LITERATURE SEARCH
A Medline, PubMED and Cochrane Library
search of Perault syndrome in the (English) literature,
cited between the years 1970 and 2011, was performed
to make differential diagnosis of our case. The medical
subject headings (MESH) terms and established abbreviations
of Perrault syndrome, hypergonadotropic
amenorrhea, sensorineural deafness and ataxia were
included to collect the relevant citations. In addition, a
hand search of pertinent references was performed.
Amor et al. [3] reviewed the cases of the rare association
of ataxia with hypergonadotropic hypogonadism
(AAH) and documented only 15 cases. In this
study, additional to the Amor et al. [3] association, the
cases with hearing loss were also reviewed. Including
the patient in the present report, 14 cases with AAHH
have been documented in the literature, sometimes
with additional abnormalities (Table 2) [4,5,10-19].
This review aimed to summarize the actual
knowledge about the genetic background, pathomechanisms,
clinical manifestations, diagnostic approaches
and therapeutic strategies concerning AAHH. The
purpose of our study was to make physicians familiar
with the constellation of clinical findings suggestive of
syndromes associated with AAHH.
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