Management of Infants Born with Disorders/Differences of Sex Development

  • Indrajit Majumdar
  • Tom Mazur


Disorders of sex development (DSD) replaced the terms intersex, hermaphroditism, pseudohermaphroditism, sex errors of the body, and ambiguous genitalia in 2006; however, the terminology remains controversial. The current genetic-based classification system of DSD highlights the importance of chromosomal analysis in diagnosis and management of individuals with DSD. Despite advances in the domain of genetics, there has been little change in the endocrine treatment of DSD over the last few decades. On the other hand, there has been an evolving dynamic on many fronts including debates about the efficiency and timing of medically and nonmedically necessary genital surgery on infants and children with a DSD diagnosis; creation of a resolution by the Council of Europe in 2013 on the protection of children’s rights to physical integrity, demanding no one be “subjected to unnecessary medical or surgical treatment that is cosmetic rather than vital for health during infancy or childhood”; more transparency from physicians and other health professionals with families and patients; and an emphasis on the value of shared decision-making on issues such as genital surgery. In essence, there has been an evolving shift to a patient- and family-centered approach with the goal of optimizing quality of life. The aims of this chapter are to (1) provide a concise update on the mechanisms controlling normal and abnormal sexual differentiation, (2) share a protocol used at our institution for the practical management of infants born with DSD, (3) provide information to guide the physician when making a DSD diagnosis and designing medical management, (4) provide new behavioral information on DSD, and (5) highlight current differences of opinion regarding the care of infants born with DSD.


Disorders of sex development Medical management of DSD Gender change Gender dysphoria DSD and quality of life DSD and parental reaction Shared decision making Clitoral surgery Legal issues globally Non-categorical 


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© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Pediatrics, Jacobs School of Medicine and Biomedical SciencesUniversity at Buffalo, State University of New YorkBuffaloUSA
  2. 2.Pediatrics, Division of Pediatric Endocrinology and DiabetesJohn R. Oishei Children’s HospitalBuffaloUSA
  3. 3.Psychiatric and Pediatrics, Jacobs School of Medicine and Biomedical SciencesUniversity at Buffalo, State University of New YorkBuffaloUSA
  4. 4.PsychiatryJohn R. Oishei Children’s HospitalBuffaloUSA

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