Balkan Journal of Medical Genetics

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

INTRODUCTION

The association of hypogonadism and cerebellar ataxia (Gordon Holmes syndrome) was first recognized as a distinct, rare, autosomal recessive syndrome in 1907 [1]. In the majority of cases the gonadal deficiency is secondary to decreased pituitary production of gonadotropins. The association of hypergonadotropic hypogonadism in females and sensorineural hearing loss (SNHL) in females and males was first described in 1951 as Perrault syndrome (PS), which is an extraordinary genetic syndrome that is inherited in an autosomal recessive manner. Affected females have streak gonads in place of their ovaries and they consequently have primary amenorrhea. Some patients also have neurological manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement. The exact frequency of the neurological abnormalities seen with PS cannot be ascertained since several reports did not include a description of either a normal or abnormal neurological examination. More recent studies have asked whether the neurological signs in some of the patients are a coincidental finding or part of the syndrome [2-4]. Some researchers proposed a possible classification of PS to type I, static and without neurological disease, and type II, with progressive neurological disease [5]. We here document a patient with association of ataxia hypergonadotropic hypogonadism and hearing loss (AAHH). Our patient could be classified as atypical type II PS due to her secondary amenorrhea and progressive neurological deficits. But to avoid confusion with the overlapping syndromes, we preferred to use the terminology of the AAHH instead of type II PS, and ascribe this association as a completely different clinical entity. As a result of our literature search, we realized that there was huge variability in the clinical severity, neurological picture, age at onset, endocrine findings,progression of symptoms, presence of associated abnormalities and proposed pathogenetic mechanisms of the reported cases. We also realized that AAHH is extremely rare and also part of well described autosomal recessive syndromes other than PS [6-9] (Table 1).

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact