Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency

F. A. Akesode, Walter Meyer, C. J. Migeon

Research output: Contribution to journalArticle

45 Citations (Scopus)

Abstract

A 28-year-old male pseudohermaphrodite with gynaecomastia was raised as a female until the age of 17 years, at which time he developed masculine features (deepening of the voice, development of facial hair, male distribution of body hair and male body habitus) and assumed a male gender role. He had a small phallus with perineal urethra, absence of labioscrotal fusion, presence of vaginal pouch and undescended testes. The testicular biopsy showed hyalinization of the tubular basement membrane, lack of spermatogenesis and hyperplastic Leydig cells. Baseline peripheral plasma studies showed androstenedione concentrations ten times normal, low testosterone, elevated oestrone and elevated gonadotrophins. The in vitro incubation of testicular tissue showed no significant conversion of androstenedione to testosterone, However, two types of peripheral tissues, skin fibroblasts and eryhtrocytes, had a normal conversion, as did the body overall as measured by the technique of androstenedione constant infusion. These studies demonstrate that the 17-ketosteroid reductase deficiency of the patient was limited to the testes.

Original languageEnglish (US)
Pages (from-to)443-452
Number of pages10
JournalClinical Endocrinology
Volume7
Issue number6
StatePublished - 1977
Externally publishedYes

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17-Hydroxysteroid Dehydrogenases
XY Disorders of Sex Development 46
Androstenedione
Hair
Testosterone
Cryptorchidism
Leydig Cells
Estrone
Urethra
Spermatogenesis
Gonadotropins
Basement Membrane
Testis
Fibroblasts
Biopsy
Skin

ASJC Scopus subject areas

  • Endocrinology

Cite this

Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency. / Akesode, F. A.; Meyer, Walter; Migeon, C. J.

In: Clinical Endocrinology, Vol. 7, No. 6, 1977, p. 443-452.

Research output: Contribution to journalArticle

Akesode, F. A. ; Meyer, Walter ; Migeon, C. J. / Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency. In: Clinical Endocrinology. 1977 ; Vol. 7, No. 6. pp. 443-452.
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