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 journalArticle

12 Citations (Scopus)

Abstract

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
Volume30
Issue number5
DOIs
StatePublished - 2012

Fingerprint

Disorders of Sex Development
Virilism
Congenital Adrenal Hyperplasia
Androgen-Insensitivity Syndrome
Family Physicians
Oxidoreductases
Salts
Steroids
Parturition
Guidelines
Psychology
Endocrinologists

Keywords

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

ASJC Scopus subject areas

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

Cite this

Wilson, J., Rivarola, M., Mendonca, B., Warne, G., Josso, N., Drop, S. S., & Grumbach, M. (2012). Advice on the management of ambiguous genitalia to a young endocrinologist from experienced clinicians. Seminars in Reproductive Medicine, 30(5), 339-350. https://doi.org/10.1055/s-0032-1324717

Advice on the management of ambiguous genitalia to a young endocrinologist from experienced clinicians. / Wilson, Jeand; Rivarola, Marcoa; Mendonca, Bereniceb; Warne, Garryl; Josso, Nathalie; Drop, Stenvertl S.; Grumbach, Melvinm.

In: Seminars in Reproductive Medicine, Vol. 30, No. 5, 2012, p. 339-350.

Research output: Contribution to journalArticle

Wilson, J, Rivarola, M, Mendonca, B, Warne, G, Josso, N, Drop, SS & Grumbach, M 2012, 'Advice on the management of ambiguous genitalia to a young endocrinologist from experienced clinicians', Seminars in Reproductive Medicine, vol. 30, no. 5, pp. 339-350. https://doi.org/10.1055/s-0032-1324717
Wilson, Jeand ; Rivarola, Marcoa ; Mendonca, Bereniceb ; Warne, Garryl ; Josso, Nathalie ; Drop, Stenvertl S. ; Grumbach, Melvinm. / Advice on the management of ambiguous genitalia to a young endocrinologist from experienced clinicians. In: Seminars in Reproductive Medicine. 2012 ; Vol. 30, No. 5. pp. 339-350.
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