Hypogonadotropic Hypogonadism and Cerebellar Ataxia: Detailed Phenotypic Characterization of a Large, Extended Kindred-Reference-Cited by-同舟云学术

Hypogonadotropic Hypogonadism and Cerebellar Ataxia: Detailed Phenotypic Characterization of a Large, Extended Kindred

Published:2002-04-01 Issue:4 Volume:87 Page:1607-1612
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Seminara Stephanie B.¹,Acierno James S.¹,Abdulwahid Najim A.¹,Crowley William F.¹,Margolin David H.²

Affiliation:

1. Reproductive Endocrine Unit (S.B.S., J.S.A., N.A.A., W.F.C.), Massachusetts General Hospital, Boston, Massachusetts 02114

2. Department of Neurology (D.H.M.), Massachusetts General Hospital, Boston, Massachusetts 02114

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/87/4/1607/10404350/jcem1607.pdf

Reference43 articles.

1. A form of familial degeneration of the cerebellum;Holmes;Brain,1907

2. Familial hypogonadotrophic eunuchoidism with cerebellar ataxia;Volpe;J Clin Endocrinol Metab,1962

3. Seminiferous tubule dysgenesis (Klinefelter’s syndrome) associated with familial cerebellar ataxia;Hecht;J Clin Endocrinol Metab,1959

4. Ultrastructural sperm abnormalities and cerebellar atrophy: does a correlation exist? Report of two cases without endocrine hypogonadism;Malandrini;J Submicrosc Cytol Pathol,1993

5. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism. Evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production;Habiby;J Clin Invest,1996

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