The syndromes of androgen resistance

Jim Griffin III, J. D. Wilson

Research output: Contribution to journalArticle

200 Citations (Scopus)

Abstract

Androgen resistance is relatively common and if it is also a common cause of male infertility, androgen resistance may prove to be more frequent than all other forms of primary hormone resistance combined. There are several possible reasons for this frequency. First of all, androgen action is required for reproduction but not for the life of the individual; as a consequence, those with even the most complete forms of resistance to androgen action have a normal life span. In contrast, severe mutations in the action of hormones essential for life (such as cortisol) probably result in fetal wastage. Secondly, since androgen action is required for the development of a normal male phenotype, defects in androgen action result either in abnormal sexual development or reproductive failure; as a consequence, there is a high probability that even the most subtle defects in the cellular machinery for androgen action eventually come to the attention of physicians. Thirdly, since the gene that specifies the androgen receptor is X-linked, defects in the androgen receptor become clinically manifest in the hemizygous (XY) state. If the gene were autosomal, most mutations would probably have become manifest only in the homozygous state. As a consequence, there is a greater chance for a new mutation in the androgen receptor to be clinically manifest and to be passed from generation to generation through asymptomatic heterozygous females.

Original languageEnglish (US)
Pages (from-to)198-209
Number of pages12
JournalNew England Journal of Medicine
Volume302
Issue number4
StatePublished - 1980

Fingerprint

Androgen-Insensitivity Syndrome
Androgens
Androgen Receptors
Mutation
Hormones
Sexual Development
Male Infertility
Genes
Reproduction
Hydrocortisone
Physicians
Phenotype

ASJC Scopus subject areas

  • Medicine(all)

Cite this

The syndromes of androgen resistance. / Griffin III, Jim; Wilson, J. D.

In: New England Journal of Medicine, Vol. 302, No. 4, 1980, p. 198-209.

Research output: Contribution to journalArticle

Griffin III, J & Wilson, JD 1980, 'The syndromes of androgen resistance', New England Journal of Medicine, vol. 302, no. 4, pp. 198-209.
Griffin III, Jim ; Wilson, J. D. / The syndromes of androgen resistance. In: New England Journal of Medicine. 1980 ; Vol. 302, No. 4. pp. 198-209.
@article{f1caf7edf56748ec8091d6b3e53f0e6f,
title = "The syndromes of androgen resistance",
abstract = "Androgen resistance is relatively common and if it is also a common cause of male infertility, androgen resistance may prove to be more frequent than all other forms of primary hormone resistance combined. There are several possible reasons for this frequency. First of all, androgen action is required for reproduction but not for the life of the individual; as a consequence, those with even the most complete forms of resistance to androgen action have a normal life span. In contrast, severe mutations in the action of hormones essential for life (such as cortisol) probably result in fetal wastage. Secondly, since androgen action is required for the development of a normal male phenotype, defects in androgen action result either in abnormal sexual development or reproductive failure; as a consequence, there is a high probability that even the most subtle defects in the cellular machinery for androgen action eventually come to the attention of physicians. Thirdly, since the gene that specifies the androgen receptor is X-linked, defects in the androgen receptor become clinically manifest in the hemizygous (XY) state. If the gene were autosomal, most mutations would probably have become manifest only in the homozygous state. As a consequence, there is a greater chance for a new mutation in the androgen receptor to be clinically manifest and to be passed from generation to generation through asymptomatic heterozygous females.",
author = "{Griffin III}, Jim and Wilson, {J. D.}",
year = "1980",
language = "English (US)",
volume = "302",
pages = "198--209",
journal = "New England Journal of Medicine",
issn = "0028-4793",
publisher = "Massachussetts Medical Society",
number = "4",

}

TY - JOUR

T1 - The syndromes of androgen resistance

AU - Griffin III, Jim

AU - Wilson, J. D.

PY - 1980

Y1 - 1980

N2 - Androgen resistance is relatively common and if it is also a common cause of male infertility, androgen resistance may prove to be more frequent than all other forms of primary hormone resistance combined. There are several possible reasons for this frequency. First of all, androgen action is required for reproduction but not for the life of the individual; as a consequence, those with even the most complete forms of resistance to androgen action have a normal life span. In contrast, severe mutations in the action of hormones essential for life (such as cortisol) probably result in fetal wastage. Secondly, since androgen action is required for the development of a normal male phenotype, defects in androgen action result either in abnormal sexual development or reproductive failure; as a consequence, there is a high probability that even the most subtle defects in the cellular machinery for androgen action eventually come to the attention of physicians. Thirdly, since the gene that specifies the androgen receptor is X-linked, defects in the androgen receptor become clinically manifest in the hemizygous (XY) state. If the gene were autosomal, most mutations would probably have become manifest only in the homozygous state. As a consequence, there is a greater chance for a new mutation in the androgen receptor to be clinically manifest and to be passed from generation to generation through asymptomatic heterozygous females.

AB - Androgen resistance is relatively common and if it is also a common cause of male infertility, androgen resistance may prove to be more frequent than all other forms of primary hormone resistance combined. There are several possible reasons for this frequency. First of all, androgen action is required for reproduction but not for the life of the individual; as a consequence, those with even the most complete forms of resistance to androgen action have a normal life span. In contrast, severe mutations in the action of hormones essential for life (such as cortisol) probably result in fetal wastage. Secondly, since androgen action is required for the development of a normal male phenotype, defects in androgen action result either in abnormal sexual development or reproductive failure; as a consequence, there is a high probability that even the most subtle defects in the cellular machinery for androgen action eventually come to the attention of physicians. Thirdly, since the gene that specifies the androgen receptor is X-linked, defects in the androgen receptor become clinically manifest in the hemizygous (XY) state. If the gene were autosomal, most mutations would probably have become manifest only in the homozygous state. As a consequence, there is a greater chance for a new mutation in the androgen receptor to be clinically manifest and to be passed from generation to generation through asymptomatic heterozygous females.

UR - http://www.scopus.com/inward/record.url?scp=0018914234&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018914234&partnerID=8YFLogxK

M3 - Article

C2 - 6985704

AN - SCOPUS:0018914234

VL - 302

SP - 198

EP - 209

JO - New England Journal of Medicine

JF - New England Journal of Medicine

SN - 0028-4793

IS - 4

ER -