Disorder of Sex Development with 5alpha-reductase Deficiency in Identical Twins / 대한소아내분비학회지
Journal of Korean Society of Pediatric Endocrinology
;
: 184-187, 2008.
Artigo
em Coreano
| WPRIM
| ID: wpr-97950
ABSTRACT
Children with abnormal sex development may present with ambiguous genitalia in the newborn period or lacking of secondary sexual characteristics in puberty. Clinicians should make a prompt and accurate diagnosis and counsel parents on therapeutic options to minimize or avoid medical and psychological complications. 5alpha-reductase deficiency is a rare autosomal recessive disorder of sex development caused by a mutation of the 5alpha-reductase type 2 gene. As a result, there is an abnormality in conversion of testosterone (T) to dihydrotestosterone (DHT) and children with 5alpha-reductase deficiency are born with ambiguous genitalia. Here, we report identical twins who presented with ambiguous genitalia with a 46,XY karyotype and were diagnosed as 5alpha-reductase deficiency.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pais
/
Transtornos do Desenvolvimento Sexual
/
Di-Hidrotestosterona
/
Testosterona
/
Gêmeos Monozigóticos
/
Puberdade
/
Desenvolvimento Sexual
/
Cariótipo
Limite:
Criança
/
Humanos
/
Recém-Nascido
Idioma:
Coreano
Revista:
Journal of Korean Society of Pediatric Endocrinology
Ano de publicação:
2008
Tipo de documento:
Artigo
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