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Semin Reprod Med 2012; 30(05): 339-350
DOI: 10.1055/s-0032-1324717
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Advice on the Management of Ambiguous Genitalia to a Young Endocrinologist from Experienced Clinicians

Jean D. Wilson
1   Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas
,
Marco A. Rivarola
2   Garrahan Pediatric Hospital, Buenos Aires, Argentina
,
Berenice B. Mendonca
3   Division of Endocrinology, Hospital das Clinicas of the University of São Paulo School of Medicine, São Paulo, Brazil
,
Garry L. Warne
4   Department of Endocrinology and Diabetes, Royal Children's Hospital Melbourne, Australia
5   Department of Paediatrics, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia
,
Nathalie Josso
6   Unité de Recherches sur l'Endocrinologie et la Génétique de la Reproduction et du Développement, INSERM, Clamart, France
,
Stenvert L.S. Drop
7   Pediatric Endocrinology, Sophia Children's Hospital/Erasmus MC, Rotterdam, The Netherlands
,
Melvin M. Grumbach
8   Edward B. Shaw Distinguished Professor of Pediatrics (Emeritus), University of California, San Francisco
› Author Affiliations
Further Information

Publication History

Publication Date:
08 October 2012 (online)

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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.

Keywords

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

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