Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.
We report on a rare case of female pseudohermaphroditism due to classical 21-hydroxylase deficiency associated with Turner syndrome (45,X/46,XX). Difficulties in the management of both diseases are briefly discussed. We regard this rare combination as a coincidental occurrence.
Maciel-Guerra
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AT
Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, SP, Brasil.
Guerra
G
G
Marini
S H
SH
Matias Baptista
M T
MT
Marques-de-Faria
A P
AP
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D012734:Disorders of Sex Development / Q000150:complications / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D005260:Female; D006801:Humans; D007223:Infant; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D014424:Turner Syndrome / Q000150:complications / Q000201:enzymology / Q000235:genetics* / Q000628:therapy
D013255:Steroid 21-Hydroxylase