Guía de actuación en las anomalías de la diferenciación sexual (ADS) / desarrollo sexual diferente (DSD).

Citation data:

Anales de pediatria (Barcelona, Spain : 2003), ISSN: 1695-9531, Vol: 89, Issue: 5, Page: 315.e1-315.e19

Publication Year:
2018
Captures 7
Readers 7
Social Media 12
Tweets 12
PMID:
30033107
DOI:
10.1016/j.anpedi.2018.06.009
Author(s):
Guerrero-Fernández, Julio; Azcona San Julián, Cristina; Barreiro Conde, Jesús; Bermúdez de la Vega, José Antonio; Carcavilla Urquí, Atilano; Castaño González, Luis Antonio; Martos Tello, José María; Rodríguez Estévez, Amaya; Yeste Fernández, Diego; Martínez Martínez, Leopoldo; Martínez-Urrutia, María José; Mora Palma, Cristina; Audí Parera, Laura Show More Hide
Publisher(s):
Elsevier BV
Tags:
Medicine
Most Recent Tweet View All Tweets
article description
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.