Pseudohermaphroditism


Pseudohermaphroditism

Description, Causes and Risk Factors:

A state in which the individual is of an unambiguous gonadal sex (i.e., possesses either testes or ovaries) but has ambiguous external genitalia.

Pseudohermaphroditism is a condition in which an infant is born with one chromosomal and gonadal sex, but has or develops some of the secondary sexual characteristics of the other sex. It can be distinguished from 'true' hermaphroditism by the presence of only one sex's gonads, either ovaries or testes, whereas in true hermaphrodites both ovarian and testicular tissues are present. The two types of hermaphroditism and other disorders of ambiguous genitalia are now referred to by the umbrella term Intersex. This acknowledges that these conditions are more complex than merely being born with the 'wrong' genitals, and that there is wide variability in the physical and psychological presentation of the condition. There is great debate over the management of Intersex infants and what treatment, if any, should be performed.

Pseudohermaphroditism may have a variety of causes, and the cause for a particular person may never be determined. An overexposure to the hormones of the opposite chromosomal sex while in utero may cause the genitals to develop abnormally. Some people are insensitive to the hormones of their chromosomal sex, and so can only incorporate the hormones of the opposite sex. Random mutations or damaged or abnormal chromosomes can also cause pseudohermaphroditism.

It is particularly important to distinguish between sex and gender when discussing intersexuality. Sex is biologically determined in the chromosomes and genotype of an individual. Gender is much more socially and psychologically determined, and someone's gender may not match the person's sex. People who are pseudohermaphrodic may think of themselves as male, as female, or as neither, both, or something in between.

Symptoms:

People with pseudohermaphroditism can vary widely in physical appearance. Some may reach puberty looking like one sex but then develop the secondary sexual characteristics for the opposite sex, such as breasts or facial hair. Others may have external genitalia that is not clearly male or female. Some individuals may only discover their intersexuality when they are unable to conceive children of their own.

Diagnosis:

Signs and tests:

    Chromosome analysis.

  • Hormone levels (for example, testosterone level).

  • Hormone stimulation tests.

  • Electrolyte tests.

  • Specific molecular testing.

  • Endoscopic examination (to verify the absence or presence of a vagina or cervix).

  • Ultrasound or MRI to evaluate whether internal sex organs are present (for example, a uterus).

Treatment:

Ideally, a team of Healthcare professionals with expertise in Intersex should work together to understand and treat the child with intersex -- and to understand, counsel, and support the entire family.

More recently, the opinion of many experts has shifted. Greater respect for the complexities of female sexual functioning has led them to conclude that suboptimal female genitalia may not be inherently better than suboptimal male genitalia, even if the reconstruction is "easier." In addition, other factors may be more important in gender satisfaction than functioning external genitals. Chromosomal, neural, hormonal, psychological, and behavioral factors can all influence gender identity.

Many experts now urge delaying definitive surgery for as long as healthy, and ideally involving the child in the gender decision.

Clearly, intersex is a complex issue, and its treatment has short- and long-term consequences. The best answer will depend on many factors, including the specific cause of the intersex. It is best to take the time to understand the issues before rushing into a decision. An intersex support group may help acquaint families with the latest research, and may provide a community of other families, children, and adult individuals who have faced the same issues.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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