Differences of sex development in the newborn: from clinical scenario to molecular diagnosis.
Minerva Pediatr (Torino)
; 73(6): 606-620, 2021 Dec.
Article
em En
| MEDLINE
| ID: mdl-34152117
ABSTRACT
Differences/disorders of sex development (DSD) are defined as a group of congenital conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. The incidence of DSD is 14500 births. The current classification divides DSDs into 3 categories according to chromosomal sex 46,XX DSD, 46,XY DSD and sex chromosome DSD. DSD phenotypes can be concordant with the genotype (apparently normal external genitalia associated with gonadal dysgenesis), or can range from simply hypospadias to completely masculinised or feminised genitalia with a discordant karyotype. Numerous genes implicated in genital development have been reported. The search of genetic variants represents a central element of the extended investigation, as an improved knowledge of the genetic aetiology helps the immediate and long-term management of children with DSDs, in term of sex of rearing, hormone therapy, surgery, fertility and cancer risk. This review aims to assess the current role of molecular diagnosis in DSD management.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Transtornos do Desenvolvimento Sexual
/
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual
/
Hipospadia
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Male
Idioma:
En
Revista:
Minerva Pediatr (Torino)
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Itália