Sexual Ambiguity

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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.

Workup and Evaluation

Laboratory: Electrolytes, hormonal and enzymatic function.

Imaging: Ultrasonography may be used to assess the internal genitalia, but it is seldom necessary for initial diagnosis.

Special Tests: Karyotyping may be desirable, but a buccal smear to detect Barr bodies is often sufficient.

Diagnostic Procedures: Systematic examination of the genitalia (mons and groin, clitoris/phallus, urethral opening, labioscrotal folds, vaginal opening, posterior fourchette and perineum, anus and anal patency—the penis has a midline frenulum; the clitoris has two lateral folds that extend to the labia minora), karyotype, laboratory testing. A multidisciplinary team may be required to complete the evaluation.

Pathologic Findings

Based on cause.

MANAGEMENT AND THERAPY

Nonpharmacologic

General Measures: Rapid assessment and treatment as if congenital adrenal hyperplasia is present should be instituted until the possibility has been ruled out. (The assignment of gender must be made as soon as possible after delivery but should be delayed until a gender can be established considering all available evidence. Many experts argue against the use of names that are gender ambiguous such as Leslie, Terry, or Jamie.)

Specific Measures: Therapy is medical and surgical—medical therapy to reverse the effects of enzyme defects; surgical therapy for cosmetics and sexual function. Surgery is often delayed until late infancy or adolescence (based on the type of reconstruction planned). If a Y-chromosome cell line is present, removal of the gonads is indicated.

Diet: No specific dietary changes indicated.

Activity: No restriction.

Drug(s) of Choice

For congenital adrenal hyperplasia: cortisol 12 to 18 mg/m² or prednisone 3.5 to 5 mg/m² or higher to maintain adrenal suppression.

FOLLOW-UP

Patient Monitoring: Normal health maintenance, continuing support for enzymatic defects.

Prevention/Avoidance: Avoidance of agents with androgenic activity during pregnancy (drugs and food supplements).

Possible Complications: Failure to establish a clear, unambiguous gender (sex of rearing) can result in lifelong social and psychological problems and may limit future surgical reconstruction and sexual options.

Expected Outcome: With early detection, successful growth and development appropriate to gender may be anticipated. With reconstruction, even severe anatomic deformities can be corrected to provide cosmetic and sexually acceptable results.

MISCELLANEOUS

Pregnancy Considerations: Based on cause—androgenized females are fully fertile and have normal pregnancies; males with isolated hypospadias or cryptorchidism may be fertile; all others are sterile.

ICD-9-CM Codes: 752.7.

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