Fertility and infertility: Genetic contributions from the hypothalamic-pituitary-gonadal axis

被引:50
作者
Achermann, JC [1 ]
Jameson, JL [1 ]
机构
[1] Northwestern Univ, Sch Med, Div Endocrinol Metab & Mol Med, Chicago, IL 60611 USA
关键词
D O I
10.1210/me.13.6.812
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:812 / 818
页数:7
相关论文
共 19 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]   A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor [J].
Beau, I ;
Touraine, P ;
Meduri, G ;
Gougeon, A ;
Desroches, A ;
Matuchansky, C ;
Milgrom, E ;
Kuttenn, F ;
Misrahi, W .
JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (07) :1352-1359
[3]   Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse [J].
Dattani, MT ;
Martinez-Barbera, JP ;
Thomas, PQ ;
Brickman, JM ;
Gupta, R ;
Mårtensson, IL ;
Toresson, H ;
Fox, M ;
Wales, JKH ;
Hindmarsh, PC ;
Krauss, S ;
Beddington, RSP ;
Robinson, ICAF .
NATURE GENETICS, 1998, 19 (02) :125-133
[4]   A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor [J].
deRoux, N ;
Young, J ;
Misrahi, M ;
Genet, R ;
Chanson, P ;
Schaison, G ;
Milgrom, E .
NEW ENGLAND JOURNAL OF MEDICINE, 1997, 337 (22) :1597-1602
[5]   Overexpression of mouse follistatin causes reproductive defects in transgenic mice [J].
Guo, QX ;
Kumar, TR ;
Woodruff, T ;
Hadsell, LA ;
DeMayo, FJ ;
Matzuk, MM .
MOLECULAR ENDOCRINOLOGY, 1998, 12 (01) :96-106
[6]   Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility [J].
Kumar, TR ;
Wang, Y ;
Lu, NF ;
Matzuk, MM .
NATURE GENETICS, 1997, 15 (02) :201-204
[7]   A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor [J].
Latronico, AC ;
Chai, YH ;
Arnhold, IJP ;
Liu, XB ;
Mendonca, BB ;
Segaloff, DL .
MOLECULAR ENDOCRINOLOGY, 1998, 12 (03) :442-450
[8]   Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene [J].
Layman, LC ;
Lee, EJ ;
Peak, DB ;
Namnoum, AB ;
Vu, KV ;
vanLingen, BL ;
Gray, MR ;
McDonough, PG ;
Reindollar, RH ;
Jameson, JL .
NEW ENGLAND JOURNAL OF MEDICINE, 1997, 337 (09) :607-611
[9]   Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism [J].
Layman, LC ;
Cohen, DP ;
Jin, M ;
Xie, J ;
Li, Z ;
Reindollar, RH ;
Bolbolan, S ;
Bick, DP ;
Sherins, RR ;
Duck, LW ;
Musgrove, LC ;
Sellers, JC ;
Neill, JD .
NATURE GENETICS, 1998, 18 (01) :14-15
[10]   Follitropin (FSH) deficiency in an infertile male due to FSHβ gene mutation.: A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations [J].
Lindstedt, G ;
Nystrom, E ;
Matthews, C ;
Ernest, I ;
Janson, PO ;
Chatterjee, K .
CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 1998, 36 (08) :663-665