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

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.

journal_name

Semin Reprod Med

authors

Wilson JD,Rivarola MA,Mendonca BB,Warne GL,Josso N,Drop SL,Grumbach MM

doi

10.1055/s-0032-1324717

subject

Has Abstract

pub_date

2012-10-01 00:00:00

pages

339-50

issue

5

eissn

1526-8004

issn

1526-4564

journal_volume

30

pub_type

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