A Practical Approach to Intersex

M. David Bomalaski

Disclosures

Urol Nurs. 2005;25(1):11-18, 23-24. 

In This Article

Diagnostic Evaluation

The spectrum of ambiguous genitalia can pose a diagnostic dilemma. There are strong pressures to provide a rapid gender determination with limited information. It is a challenge to the clinician's skill to impress upon the parents the need to complete a full biochemical, anatomic, and multidisciplinary evaluation before rushing to an arbitrary gender assignment. Equally important to impress upon the parents is the fact that the gender chosen by the parents and health care providers may not be the same gender later chosen by the patient. The goal is to determine the underlying metabolic abnormality and to assign a gender most compatible with the future sexual satisfaction of the patient. Understanding the above discussion on the embryogenesis of the gonads and genitalia can narrow the possibilities.

A number of factors go into gender determination, starting with a history and physical. Important points of history include any maternal exposure to endogenous or exogenous androgens. A family history is also important, specifically a family history of gonadal defects, prior miscarriages, or early infant deaths. Physical examination may reveal palpable gonads, which are nearly always testes. The degree of virilization is important in determining cause as well as treatment strategies. The length and girth of the phallus is important in determining if a functional penis is present. It is vital to assess the electrolyte status of the newborn, as many forms of congenital adrenal hyperplasia associated with ambiguous genitalia are associated with mineralocorticoid over or undersecretion. Dark pigmentation of the genitalia and areola may indicate overproduction of melanocyte-stimulating hormone from adrenocorticotropic hormone (ACTH) and signs of dehydration may be indicative of salt wasting. Chromosomal determination is important but not an absolute determinant of gender. Chromosomal analysis may take several days to obtain. Pending these results, chromatin stains can help to determine the presence or absence of a second X chromosome and fluorescent Y stains can help identify the Y chromosome. Some patients may exhibit asymmetrical staining suggesting genetic mosaicism (Ogilvy-Stuart & Brain, 2004). The internal genitalia are important in determining potential for future fertility, just as the adequacy of the external genitalia are important to assess prior to male gender assignment. Finally, despite all present day tests and examinations, it is impossible to determine in all patients which gender the patient will prefer later in life. We know little about the effects of hormonal imprinting on the fetal brain and can not predict all of the socialization pressure of the child with corrected and uncorrected genital malformations.

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