Advice on the management of ambiguous genitalia to a young endocrinologist from experienced clinicians

Jeand Wilson, Marcoa Rivarola, Bereniceb Mendonca, Garryl Warne, Nathalie Josso, Stenvertl S. Drop, Melvinm Grumbach

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


The birth of a child with ambiguous genitalia is a challenging and distressing event for the family and physician and one with life-long consequences. Most disorders of sexual differentiation (DSD) associated with ambiguous genitalia are the result either of inappropriate virilization of girls or incomplete virilization of boys. It is important to establish a diagnosis as soon as possible, for psychological, social, and medical reasons, particularly for recognizing accompanying life-threatening disorders such as the salt-losing form of congenital adrenal hyperplasia. In most instances, there is sufficient follow-up data so that making the diagnosis also establishes the appropriate gender assignment (infants with congenital adrenal hyperplasia, those with androgen resistance syndromes), but some causes of DSD such as steroid 5α-reductase 2 deficiency and 17β-hydroxysteroid dehydrogenase deficiency are associated with frequent change in social sex later in life. In these instances, guidelines for sex assignment are less well established.

Original languageEnglish (US)
Pages (from-to)339-350
Number of pages12
JournalSeminars in reproductive medicine
Issue number5
StatePublished - 2012


  • 5α-reductase 2 deficiency
  • Jost model
  • androgen insensitivity
  • anti-Müllerian hormone
  • chromosomal sex
  • congenital adrenal hyperplasia (CAH)
  • defects in androgen synthesis/action
  • dihydrotestosterone
  • disorders of sexual development (DSD)
  • gonadal sex
  • mixed gonadal dysgenesis
  • ovotesticular DSD
  • phenotypic sex
  • placental aromatase deficiency
  • testosterone

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Reproductive Medicine
  • Endocrinology
  • Obstetrics and Gynecology
  • Physiology (medical)


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