Clinical and endocrinologic characterization of a patient with the syndrome of incomplete testicular feminization

J. D. Madden, Patrick Walsh, P. C. MacDonald, J. D. Wilson

Research output: Contribution to journalArticle

Abstract

A 46 XY individual with male pseudohermaphroditism was investigated. The phenotype was distinctive in that the habitus was female in character, but partial fusion of the labioscrotal folds, testes, and male wolffian duct structures that terminated in the vagina were present. Mullerian structures were absent. At the expected time of puberty both feminization (breast development) and virilization (clitoral enlargement) took place. Studies of estrogen and androgen dynamics revealed plasma testosterone levels and production rates characteristic of normal men. Plasma estrogen levels and production rates were greater than those of normal men. Plasma gonadotropin levels were also high. These findings suggest that the fundamental defect in this patient is androgen resistance rather than defective androgen synthesis. Dihydrotestosterone formation from testosterone in slices of epididymis and perineal skin was normal. The family history was uninformative. On endocrinologic, genetic, and phenotypic grounds the syndrome of incomplete testicular feminization can be separated from the complete form of testicular feminization and from familial incomplete male pseudohermaphroditism, Type 2. Additional studies will be required to determine whether this disorder is also distinct from the Type I form of familial incomplete male pseudohermaphroditism.

Original languageEnglish (US)
Pages (from-to)751-760
Number of pages10
JournalJournal of Clinical Endocrinology and Metabolism
Volume41
Issue number4
StatePublished - 1975
Externally publishedYes

Fingerprint

Androgen-Insensitivity Syndrome
Androgens
Plasmas
Testosterone
Estrogens
Wolffian Ducts
XY Disorders of Sex Development 46
Feminization
Virilism
Dihydrotestosterone
Epididymis
Vagina
Puberty
Gonadotropins
Ducts
Testis
Skin
Breast
Fusion reactions
Phenotype

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Clinical and endocrinologic characterization of a patient with the syndrome of incomplete testicular feminization. / Madden, J. D.; Walsh, Patrick; MacDonald, P. C.; Wilson, J. D.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 41, No. 4, 1975, p. 751-760.

Research output: Contribution to journalArticle

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