RT Journal Article
T1 [Management guidelines for disorders / different sex development (DSD)].
T2 Guía de actuación en las anomalías de la diferenciación sexual (ADS) / desarrollo sexual diferente (DSD).
A1 Guerrero-Fernández, Julio
A1 Azcona San Julián, Cristina
A1 Barreiro Conde, Jesús
A1 Bermúdez de la Vega, José Antonio
A1 Carcavilla Urquí, Atilano
A1 Castaño González, Luis Antonio
A1 Martos Tello, José María
A1 Rodríguez Estévez, Amaya
A1 Yeste Fernández, Diego
A1 Martínez Martínez, Leopoldo
A1 Martínez-Urrutia, María José
A1 Mora Palma, Cristina
A1 Audí Parera, Laura
K1 Desarrollo sexual diferente (DSD)
K1 Diagnosis
K1 Diagnóstico
K1 Disorders of sex development (DSD)
K1 Guidelines
K1 Guía
K1 Therapy
K1 Transición a adultos
K1 Transition to adult care
K1 Tratamiento
AB Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred. They originate in the pre-natal stage, are classified according to the sex chromosomes present in the karyotype. The known genetic causes are numerous and heterogeneous, although, in some cases, they may be secondary to maternal factors and/or exposure to endocrine-disrupting chemicals (EDCs). The diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. An aetiological diagnosis needs the interaction of clinical, biochemical (hormonal), genetic, imaging and, sometimes, surgical examinations. The treatment should deal with sex assignment, the possible need for hormone replacement therapy (adrenal if adrenal function is impaired, and with sex steroids from pubertal age if gonadal function is impaired), as well as the need for surgery on genital structures (currently deferred when possible) and/or on gonads (depending on the risk of malignancy), the need of psychosocial support and, finally, an adequate organisation of the transition to adult medical specialties. Patient Support Groups have a fundamental role in the support of families, as well as the interaction with professional and social media. The use of Registries and the collaboration between professionals in Working Groups of national and international medical societies are crucial for improving the diagnostic and therapeutic tools required for the care of patients with DSD.
YR 2018
FD 2018-07-20
LK http://hdl.handle.net/10668/12740
UL http://hdl.handle.net/10668/12740
LA es
DS RISalud
RD Apr 6, 2025