AMBIGUOUS GENITALIA IN THE PROTEUS SYNDROME

被引：8

作者：

FRYDMAN, M

KAUSCHANSKY, A

VARSANO, I

机构：

[1] HASHARON HOSP,GOLDA MED CTR,DEPT PEDIAT,ENDOCRINOL CLIN,IL-49371 PETAH TIQWA,ISRAEL

[2] TEL AVIV UNIV,SACKLER SCH MED,TEL AVIV,ISRAEL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 04期

关键词：

ambiguous genitalia; female pseudohermaphroditism; hemihypertrophy; Proteus syndrome;

D O I：

10.1002/ajmg.1320360428

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：511 / 512

页数：2

共 5 条

[1] PROTEUS SYNDROME - AN EXPANDED PHENOTYPE [J].