Neonatology pp 1893-1917 | Cite as

Disorders of Sexual Development in Newborns

  • Antonio Balsamo
  • Paolo GhirriEmail author
  • Silvano BertelloniEmail author
  • Rosa T. ScaramuzzoEmail author
  • Franco D’AlbertonEmail author
  • Alessandro CicognaniEmail author
  • Antonio BoldriniEmail author
Reference work entry


The understanding, care, and treatment of newborns born with disorders of sex development conditions have evolved considerably over the last few decades. Biological assessment of atypical genitalia is based on a structured sequence of endocrine and genetic investigations, starting from a suitable history and a complete examination of the external genital anatomy. Investigations are particularly relevant in the 46,XY DSD where the diagnostic yield is less successful than in the 46,XX conditions. The era of next-generation sequencing is increasingly being applied to investigate complex medical diseases of unknown cause, including DSD. The challenge for health professionals will lie in integrating vast amounts of genetic information with phenotypes and counseling families appropriately. Regarding those who require evaluation before gender assignment is made, each “generation” of approach reflects the contemporary biological, social, and psychological understanding. The most recent generation needs to consider the significantly changed societal viewpoints regarding the acceptance and expansion beyond a binary perception of sexuality. This together with advances in genetic etiologies, surgical refinements, and psychological support should result in better care and quality of life (QoL) outcomes for patients with these conditions.


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Medical and Surgical Sciences, Pediatric Unit, Center for Rare Endocrine Diseases (CARENDO BO)S.Orsola Malpighi University HospitalBolognaItaly
  2. 2.Neonatology and Neonatal Intensive Care UnitSanta Chiara University HospitalPisaItaly
  3. 3.Adolescent Medicine Unit, Division of PediatricsS. Chiara Hospital, University of PisaPisaItaly
  4. 4.Department of Clinical and Experimental Medicine, Division of Neonatology and Neonatal Intensive Care UnitSanta Chiara University HospitalPisaItaly

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