Sexual Ambiguity

Published on 06/06/2015 by admin

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Last modified 06/06/2015

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Chapter 174 Sexual Ambiguity

INTRODUCTION

Description: Structural abnormalities present at birth may make the assignment of an appropriate sex of rearing (gender) difficult or impossible (sexual ambiguity). The evaluation of these infants represents both a social and medical emergency because life-threatening conditions may be present.
Prevalence: Less than 1 of 2000 births.
Predominant Age: Present at birth.
Genetics: Some enzymatic defects may be inheritable. A history of a previously affected relative may be present for patients with androgen insensitivity or its variants.

ETIOLOGY AND PATHOGENESIS

Causes: Enzyme defects (5α-reductase, 11β- 17α-, or 21-hydroxylase deficiencies), androgen insensitivity syndrome, intrauterine androgen exposure. (Most patients with ambiguous genitalia prove to be androgenized females with adrenal hyperplasia.) Cases are often placed into one of four categories: female pseudohermaphroditism, male pseudohermaphroditism, dysgenetic gonads (including true hermaphroditism), and true hermaphroditism (rare).
Risk Factors: In utero androgen exposure.

CLINICAL CHARACTERISTICS

Signs and Symptoms

• Incompletely formed or malformed external genitalia (varies from labial adhesion to clitoral hypertrophy and vaginal agenesis based on cause and genetic makeup of the individual)
• Infants—rapid development of vomiting, diarrhea, dehydration, and shock (congenital adrenal hyperplasia)

DIAGNOSTIC APPROACH

Differential Diagnosis

• Congenital adrenal hyperplasia (may be life-threatening—must be first consideration in any newborn with ambiguous genitalia or male babies with cryptorchidism; if gonads are not palpable, adrenal hyperplasia must be presumed, and treated, until disproved).
• Androgen exposure in utero (exogenous, luteoma of pregnancy)
• Vaginal agenesis
• Imperforate hymen
• Other enzymatic defects

Associated Conditions: Premature puberty, infertility, sexual dysfunction, and gender dysphoria.

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