Ambiguous genitalia in the Proteus syndrome

M. Frydman*, A. Kauschansky, I. Varsano

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

An 11-year-old girl was followed up since birth because of hemihypertrophy of the left leg and thigh, multiple pigmented nevi and subcutaneous tumors typical of the Proteus syndrome. Because of clitoromegaly and scrotal-like hypertrophy of the labia majora, she had an endocrine evaluation the results of which were normal. The findings are thought to represent local genical hypertrophy. Ambiguous genitalia have to be added to the phenotype of the Proteus syndrome.

Original languageEnglish
Pages (from-to)511-512
Number of pages2
JournalAmerican Journal of Medical Genetics
Volume36
Issue number4
DOIs
StatePublished - 1990
Externally publishedYes

Keywords

  • Proteus syndrome
  • ambiguous genitalia
  • female pseudohermaphroditism
  • hemihypertrophy

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