Male hypogonadism due to a mutation in the gene for the β-subunit of follicle-stimulating hormone

被引：174
作者：
Phillip, M
Arbelle, JE
Segev, Y
Parvari, R
机构：
[1] Ben Gurion Univ Negev, Pediat Diagnost & Therapeut Ctr, IL-84105 Beer Sheva, Israel
[2] Ben Gurion Univ Negev, Endocrine Clin, IL-84105 Beer Sheva, Israel
[3] Ben Gurion Univ Negev, Genet Inst, IL-84105 Beer Sheva, Israel
[4] Ben Gurion Univ Negev, Soroka Med Ctr, IL-84105 Beer Sheva, Israel
[5] Ben Gurion Univ Negev, Fac Hlth, IL-84105 Beer Sheva, Israel
来源：
NEW ENGLAND JOURNAL OF MEDICINE | 1998年 / 338卷 / 24期
关键词：
D O I：
10.1056/NEJM199806113382404
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：1729 / 1732
页数：4
相关论文
共 25 条
[1]   MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE [J].
AITTOMAKI, K ;
LUCENA, JLD ;
PAKARINEN, P ;
SISTONEN, P ;
TAPANAINEN, J ;
GROMOLL, J ;
KASKIKARI, R ;
SANKILA, EM ;
LEHVASLAIHO, H ;
ENGEL, AR ;
NIESCHLAG, E ;
HUHTANIEMI, I ;
DELACHAPELLE, A .
CELL, 1995, 82 (06) :959-968
[2]  
ALANSARI AAK, 1984, FERTIL STERIL, V42, P618
[3]   Serum inhibin B levels reflect sertoli cell function in normal men and men with testicular dysfunction [J].
Anawalt, BD ;
Bebb, RA ;
Matsumoto, AM ;
Groome, NP ;
Illingworth, PJ ;
McNeilly, AS ;
Bremner, WJ .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (09) :3341-3345
[4]  
Carreau S, 1996, FOLIA HISTOCHEM CYTO, V34, P111
[5]   HETEROGENEITY IN THE MUTATIONS RESPONSIBLE FOR X-CHROMOSOME-LINKED KALLMANN SYNDROME [J].
HARDELIN, JP ;
LEVILLIERS, J ;
BLANCHARD, S ;
CAREL, JC ;
LEUTENEGGER, M ;
PINARDBERTELLETTO, JP ;
BOULOUX, P ;
PETIT, C .
HUMAN MOLECULAR GENETICS, 1993, 2 (04) :373-377
[6]   SENTINELS OF LEYDIG-CELL STRUCTURAL AND FUNCTIONAL-CHANGES IN GOLDEN-HAMSTERS IN EARLY TESTICULAR REGRESSION AND RECRUDESCENCE [J].
HIKIM, APS ;
CHANDRASHEKAR, V ;
BARTKE, A ;
RUSSELL, LD .
INTERNATIONAL JOURNAL OF ANDROLOGY, 1993, 16 (05) :324-342
[7]   HUMAN FOLLICLE-STIMULATING-HORMONE BETA-SUBUNIT GENE ENCODES MULTIPLE MESSENGER RIBONUCLEIC-ACIDS [J].
JAMESON, JL ;
BECKER, CB ;
LINDELL, CM ;
HABENER, JF .
MOLECULAR ENDOCRINOLOGY, 1988, 2 (09) :806-815
[8]  
Jameson JL, 1996, MOL CELL ENDOCRINOL, V125, P143
[9]  
KJESSLER B, 1974, FERTIL STERIL, V25, P1007
[10]   MALE PSEUDOHERMAPHRODITISM DUE TO A HOMOZYGOUS MISSENSE MUTATION OF THE LUTEINIZING-HORMONE RECEPTOR GENE [J].
KREMER, H ;
KRAAIJ, R ;
TOLEDO, SPA ;
POST, M ;
FRIDMAN, JB ;
HAYASHIDA, CY ;
VANREEN, M ;
MILGROM, E ;
ROPERS, HH ;
MARIMAN, E ;
THEMMEN, APN ;
BRUNNER, HG .
NATURE GENETICS, 1995, 9 (02) :160-164
123