全部 标题 作者
关键词 摘要

OALib Journal期刊
ISSN: 2333-9721
费用:99美元

查看量下载量

相关文章

更多...

Hypergonadotrophic Hypogonadism with Cerebellar Ataxia in a Twenty-Six-Year-Old Female: A Case Report

DOI: 10.4236/ojmn.2024.141009, PP. 83-90

Keywords: Gordon Holmes Syndrome, Hypergonadotrophic Hypogonadism, Cerebellar Ataxia, Neuroendocrine Disorder

Full-Text   Cite this paper   Add to My Lib

Abstract:

Gordon Holmes Syndrome is a rare inherited disease characterized by both neurological and reproductive signs and symptoms. Most patients develop neurologic challenges in early adulthood and cerebellar ataxia occurs as the disease progresses. In the majority of patients, hypogonadism is hypogonadotropic but rarely hypergonadotropic. We report a case of a 26-year-old female in Nigeria, with hypergonadotropic hypogonadism and cerebellar atrophy from a non-consanguineous marriage and no family history.

References

[1]  Amor, D.J., Delatycki, M.B., Gardner, R.J.M. and Storey, E. (2001) New Variant of Familial Cerebellar Ataxia with Hypergonadotropic Hypogonadism and Sensorineural Deafness. American Journal of Medical Genetics, 99, 29-33.
https://doi.org/10.1002/1096-8628(20010215)99:1<29::AID-AJMG1119>3.0.CO;2-Q
[2]  Boucher, B.J. and Gibberd, G.F. (1969) Familial Ataxia, Hypogonadism and Retinal Degeneration. Acta Neurologica Scandinavica, 45, 507-510.
https://doi.org/10.1111/j.1600-0404.1969.tb01261.x
[3]  Braga-Neto, P., Martins, M.C.R., Santos-Neto, D., Weisman, P., de Paula Fiod Costa, E., Pinto, L.M., et al. (2010) Hypergonadotropic Hypogonadism and Cerebellar Ataxia: An Unusual Association. Arquivos de Neuro-Psiquiatria, 68, 132-134.
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000100028&lng=en&tlng=en
https://doi.org/10.1590/S0004-282X2010000100028
[4]  Mahale, R., Mehta, A., Kempegowda, M., Sharma, S., Javali, M. and Rangasetty, S. (2015) Hypergonadotrophic Hypogonadism and Cerebellar Ataxia in an Indian Adolescent: A Rare Report. Journal of Pediatric Neurosciences, 10, 414.
http://www.pediatricneurosciences.com/text.asp?2015/10/4/414/174442
https://doi.org/10.4103/1817-1745.174442
[5]  Holmes, G. (1908) A Form of Familial Degeneration of the Cerebellum. Brain, 30, 466-489.
https://doi.org/10.1093/brain/30.4.466
[6]  Malandrini, A., Villanova, M., Piomboni, P., Collodel, G., Spadaro, M., Giunti, P., Salvadori, C., Morocutti, C. and Guazzi, G.C. (1993) Ultrastructural Sperm Abnormalities and Cerebellar Atrophy: Does a Correlation Exist? Report of Two Cases without Endocrine Hypogonadism. Journal of Submicroscopic Cytology and Pathology, 25, 371-375.
[7]  Schwanzel-Fukuda, M., Bick, D. and Pfaff, D.W. (1989) Luteinizing Hormone-Releasing Hormone (LHRH)-Expressing Cells Do Not Migrate Normally in an Inherited Hypogonadal (Kallmann) Syndrome. Molecular Brain Research, 6, 311-326.
https://linkinghub.elsevier.com/retrieve/pii/0169328X89900764
https://doi.org/10.1016/0169-328X(89)90076-4
[8]  Neuhäuser, G. and Opitz, J.M. (1975) Autosomal Recessive Syndrome of Cerebellar Ataxia and Hypogonadotropic Hypogonadism. Clinical Genetics, 7, 426-434.
https://doi.org/10.1111/j.1399-0004.1975.tb00353.x
[9]  Volpe, R., Metzler, W.S. and Johnston, M.W. (1963) Familial Hypogonadotrophic Eunuchoidism with Cerebellar Ataxia. The Journal of Clinical Endocrinology & Metabolism, 23, 107-115.
https://doi.org/10.1210/jcem-23-1-107
[10]  Soussou, M. (2019) Secondary Amenorrhea with Hypogonadotropic Hypogonadism Associated to a Cerebellar Ataxia: Diagnosis Contingencies. International Journal of Advanced Research, 7, 376-380.
http://www.journalijar.com/article/28043/secondary-amenorrhea-with-hypogonadotropic-hypogonadism-associated-to-a-cerebellar-ataxia:-diagnosis-contingencies/
https://doi.org/10.21474/IJAR01/9048
[11]  Georgopoulos, N., Papapetropoulos, S., Chroni, E., Papadeas, E., Dimopoulos, P., Kyriazopoulou, V., et al. (2004) Spinocerebellar Ataxia and Hypergonadotropic Hypogonadism Associated with Familial Sensorineural Hearing Loss. Gynecological Endocrinology, 19, 105-110.
https://doi.org/10.1080/09513590400001427
[12]  Sarikaya, E., Ensert, C. and Gulerman, H. (2011) Hypergonadotropic Hypogonadism, Progressive Early-Onset Spinocerebellar Ataxia, and Late-Onset Sensorineural Hearing Loss: Case Report and Literature Review. Balkan Journal of Medical Genetics, 14.
https://doi.org/10.2478/v10034-011-0050-z
[13]  Matthews, W.B. and Rundle, A.T. (1964) Familial Cerebellar Ataxia and Hypogonadism. Brain, 87, 463-468.
https://doi.org/10.1093/brain/87.3.463
[14]  Synofzik, M., Gonzalez, M.A., Lourenco, C.M., Coutelier, M., Haack, T.B., Rebelo, A., et al. (2014) PNPLA6 Mutations Cause Boucher-Neuhäuser and Gordon Holmes Syndromes as Part of a Broad Neurodegenerative Spectrum. Brain, 137, 69-77.
https://doi.org/10.1093/brain/awt326
[15]  Berciano, J., Amado, J.A., Freijanes, J., Rebollo, M. and Vaquero, A. (1982) Familial Cerebellar Ataxia and Hypogonadotropic Hypogonadism: Evidence for Hypothalamic LHRH Deficiency. Journal of Neurology, Neurosurgery and Psychiatry, 45, 747-751.
https://doi.org/10.1136/jnnp.45.8.747

Full-Text

Contact Us

service@oalib.com

QQ:3279437679

WhatsApp +8615387084133