PARTIAL ANDROGEN RESISTANCE ASSOCIATED WITH SECONDARY 5-ALPHA-REDUCTASE DEFICIENCY - IDENTIFICATION OF A NOVEL QUALITATIVE ANDROGEN RECEPTOR DEFECT AND CLINICAL IMPLICATIONS

被引：46

作者：

JUKIER, L

KAUFMAN, M

PINSKY, L

PETERSON, RE

机构：

[1] SIR MORTIMER B DAVIS JEWISH GEN HOSP, LADY DAVIS INST MED RES, CELL GENET LAB, MONTREAL H3T 1E2, QUEBEC, CANADA

[2] MONTREAL GEN HOSP, DIV ENDOCRINOL & METAB, MONTREAL H3G 1A4, QUEBEC, CANADA

[3] MCGILL UNIV, CTR HUMAN GENET, MONTREAL H3A 2T5, QUEBEC, CANADA

[4] CORNELL UNIV, MED CTR, COLL MED, DEPT MED, DIV ENDOCRINOL, NEW YORK, NY 10021 USA

来源：

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 1984年 / 59卷 / 04期

关键词：

D O I：

10.1210/jcem-59-4-679

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：679 / 688

页数：10

共 61 条

[1] PARTIAL ANDROGEN INSENSITIVITY - REIFENSTEIN SYNDROME REVISITED [J].

AMRHEIN, JA ;

KLINGENSMITH, GJ ;

WALSH, PC ;

MCKUSICK, VA ;

MIGEON, CJ .

NEW ENGLAND JOURNAL OF MEDICINE, 1977, 297 (07) :350-356

[2] CULTURED HUMAN-SKIN FIBROBLASTS - A MODEL FOR THE STUDY OF ANDROGEN ACTION [J].

BROWN, TR ;

MIGEON, CJ .

MOLECULAR AND CELLULAR BIOCHEMISTRY, 1981, 36 (01) :3-22

[3] HUMAN COMPLETE ANDROGEN INSENSITIVITY WITH NORMAL DIHYDROTESTOSTERONE RECEPTOR-BINDING CAPACITY IN CULTURED GENITAL SKIN FIBROBLASTS - EVIDENCE FOR A QUALITATIVE ABNORMALITY OF THE RECEPTOR [J].

BROWN, TR ;

MAES, M ;

ROTHWELL, SW ;

MIGEON, CJ .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1982, 55 (01) :61-69

[4] COMPARISON OF METHYLTRIENOLONE AND DIHYDROTESTOSTERONE BINDING AND METABOLISM IN HUMAN GENITAL SKIN FIBROBLASTS [J].

BROWN, TR ;

ROTHWELL, SW ;

MIGEON, CJ .

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 1981, 14 (10) :1013-1022

[5] EARLY MANIFESTATIONS OF MULTIPLE SULFATASE DEFICIENCY [J].

BURK, RD ;

VALLE, D ;

THOMAS, GH ;

MILLER, C ;

MOSER, A ;

MOSER, H ;

ROSENBAUM, KN .

JOURNAL OF PEDIATRICS, 1984, 104 (04) :574-578

[6] RADIOIMMUNOASSAY OF PLASMA DEHYDROEPIANDROSTERONE SULFATE [J].

BUSTER, JE ;

ABRAHAM, GE .

ANALYTICAL LETTERS, 1972, 5 (08) :543-&

[7] ANDROGENS IN HUMAN FETUS [J].

DIEZDAUX, RC ;

MURPHY, BEP .

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 1974, 5 (03) :207-210

[8] FAMILIAL INCOMPLETE MALE PSEUDO-HERMAPHRODITISM ASSOCIATED WITH IMPAIRED NUCLEAR ANDROGEN RETENTION - STUDIES IN CULTURED SKIN FIBROBLASTS [J].

EIL, C .

JOURNAL OF CLINICAL INVESTIGATION, 1983, 71 (04) :850-858

[9]

ELAWADY MK, 1983, AM J HUM GENET, V35, P376

[10] CLINICAL, ENDOCRINOLOGICAL, AND ENZYMATIC CHARACTERIZATION OF 2 PATIENTS WITH 5ALPHA-REDUCTASE DEFICIENCY - EVIDENCE THAT A SINGLE ENZYME IS RESPONSIBLE FOR 5-ALPHA-REDUCTION OF CORTISOL AND TESTOSTERONE [J].

FISHER, LK ;

KOGUT, MD ;

MOORE, RJ ;

GOEBELSMANN, U ;

WEITZMAN, JJ ;

ISAACS, H ;

GRIFFIN, JE ;

WILSON, JD .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1978, 47 (03) :653-664

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