Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene

被引：183

作者：

Layman, LC

Lee, EJ

Peak, DB

Namnoum, AB

Vu, KV

vanLingen, BL

Gray, MR

McDonough, PG

Reindollar, RH

Jameson, JL

机构：

[1] NORTHWESTERN UNIV,DIV ENDOCRINOL METAB & MOL MED,CHICAGO,IL 60611

[2] TUFTS UNIV,SCH MED,DIV REPROD ENDOCRINOL,DEPT OBSTET & GYNECOL,BOSTON,MA 02111

[3] JOHNS HOPKINS UNIV,DIV REPROD ENDOCRINOL,DEPT OBSTET & GYNECOL,BALTIMORE,MD

[4] BETH ISRAEL MED CTR,SECT REPROD ENDOCRINOL,DEPT OBSTET & GYNECOL,BOSTON,MA

[5] MED COLL GEORGIA,DEPT OBSTET & GYNECOL,SECT REPROD ENDOCRINOL INFERTIL & GENET,AUGUSTA,GA 30912

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1997年 / 337卷 / 09期

关键词：

D O I：

10.1056/NEJM199708283370905

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：607 / 611

页数：5

共 30 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] Homologous in vitro bioassay for follicle-stimulating hormone (FSH) reveals increased FSH biological signal during the mid- to late luteal phase of the human menstrual cycle [J].

ChristinMaitre, S ;

Taylor, AE ;

Khoury, RH ;

Hall, JE ;

Martin, KA ;

Smith, PC ;

Albanese, C ;

Jameson, JL ;

Crowley, WF ;

Sluss, PM .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (06) :2080-2088

[4]

FOREST MG, 1995, ENDOCRINOLOGY, V2, P1901

[5] Adrenal hypoplasia congenita with hypogonadotropic hypogonadism - Evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production [J].

Habiby, RL ;

Boepple, P ;

Nachtigall, L ;

Sluss, PM ;

Crowley, WF ;

Jameson, JL .

JOURNAL OF CLINICAL INVESTIGATION, 1996, 98 (04) :1055-1062

[6]

HAGG E, 1978, SCAND J UROL NEPHROL, V12, P287

[7] 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

[8] 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

[9]

Jameson JL, 1996, MOL CELL ENDOCRINOL, V125, P143

[10]

KEENE JL, 1989, J BIOL CHEM, V264, P4769

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