Cited by 40Sexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesAdrenal Hormones and Disorders

Androgens and Androgen Responsiveness in the Feminizing Testis Syndrome. Comparison of Complete and “Incomplete” Forms1

ROSENFIELD, ROBERT L., LAWRENCE, A. M., LIAO, SHUTSUNG, LANDAU, RICHARD L.·1971·The Journal of Clinical Endocrinology & Metabolism

Abstract

The metabolic response to androgens was studied in a patient with the complete syndrome of testicular feminization in whom the conversion of testosterone to dihydrotestosterone by skin homogenates was below normal. The subject not only failed to manifest an anabolic response to chorionic gonadotropin and testosterone propionate, but also failed to respond to dihydrotestosterone and dihydrotestosterone acetate. Steroid dosages were those sufficient to induce maximal anabolism in normal men or women. The anticipated anabolic effect of estradiol benzoate was readily demonstrated. It is accordingly proposed that the resistance to androgen resulted from an abnormality of specific androgen retention by target cell nuclei or in the subsequent chain of intracellular events initiated by androgen. It is suggested that the remarkable degree of breast development in the complete syndrome is the result of the unopposed action of estrogen of testicular origin, acting upon mammary primordia not subjected to antenatal inhibition by androgen. The diagnosis of “incomplete testicular feminization” was presumed in a pubertal male pseudohermaphrodite on the basis of absent miillerian derivatives, early breast development, and evidence compatible with androgen insensitivity. Two experimental observations supported the concept of end organ resistance to the effects of androgen. The degree of development of secondary sex characteristics was seemingly poor considering the nearly adult male level of plasma testosterone. Delayed, if any, anabolic response resulted from chorionic gonadotropin stimulation in spite of a rise in plasma testosterone from 233 to 770 ng/100 ml. That no more than partial androgen resistance existed was indicated by the observation that an anabolic response was induced by both dihydrotestosterone acetate and testosterone propionate at plasma levels of unconjugated steroid over 1000–2000 ng/100 ml. Intracellular formation of dihydrotestosterone from testosterone was normal. No abnormality in the plasma concentration of androgenic intermediary metabolites was demonstrated in either patient. The comparative studies suggest that complete and incomplete forms of the feminizing testes syndrome exist which may differ in the degree or nature of androgen resistance.

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Crossref · 10.1210/jcem-32-5-625

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  • Athletes with CAIS can compete fairly as females because the circulating testosterone, although at adult male levels, has no physiological effect, so that affected individuals are indistinguishable from females and gain no benefits of the sex difference arising from unimpeded testosterone action.

    “Athletes with CAIS can compete fairly as females because the circulating testosterone, although at adult male levels, has no physiological effect so that, in terms of androgen action and the ensuing physical somatic advantages of male sex, affected individuals are indistinguishable from females and gain no benefits of the sex difference arising from unimpeded testosterone action.”

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Authors
ROSENFIELD, R. L., LAWRENCE, A. M., LIAO, S., & LANDAU, R. L.
Affiliations
University of Chicago (US)
Venue
The Journal of Clinical Endocrinology & Metabolism
Published
1971-05
Volume
32
Issue
5
Pages
625-632
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
OpenAlex
W2078170567
Cited by
40
References
0
Citations by year
2024: 1 · 2021: 1 · 2018: 1 · 2016: 1
FWCI
1.96
Type
journal article
Language
en
Open access
closed
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Keywords
androgen insensitivity syndrome, androgen resistance, androgen metabolism, dihydrotestosterone, testosterone, anabolic response, human chorionic gonadotropin, testosterone propionate, estradiol benzoate, breast development, pseudohermaphroditism, Müllerian duct derivatives, androgen receptor
MeSH terms
Adolescent, Adult, Androstanes, Creatine, Dehydroepiandrosterone, Estradiol, Female, Chorionic Gonadotropin, Humans, Nitrogen, Phosphorus, Skin, Androgen-Insensitivity Syndrome, Testosterone, Tritium, In Vitro Techniques

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