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By Medifit Education



Intersexuality 1


The condition (as that occurring in congenital adrenal hyperplasia, androgen insensitivity syndrome, or gonadal dysgenesis) of either having both male and female gonadal tissue in one individual or of having the gonads of one sex and external genitalia that is of the other sex or is ambiguous—compare


There are several physical conditions that can cause an infant to be intersex. Typically, women have a pair of sex chromosomes in the shape of XX while men have a pair of sex chromosomes in the shape of XY. However, sometimes a baby will be born with a triplet instead of a pair.

When the triplet is XXX or XYY, the child is still a female or male, respectively and will often not be diagnosed unless they have a genetic test for another reason. When the triplet is XXY on the other hand, a condition called Klinefelter’s Syndrome, the affected male will experience infertility and small testicles and may also experience other physical and neurological issues, such as language impairment, gynecomastia (increased breast tissue) and possible osteoporosis later in life.

Even if the chromosomes are structurally typical, they may still contain mutations in the DNA itself to cause an intersex condition. For example, the sex chromosomes may be XY but the Y chromosome lacks the sex determinant gene (called Swyer Syndrome); therefore, the child would be chromosomally male but have female characteristics.

Something similar happens in Androgen Insensitivity Syndrome in which the Y chromosome has the sex determinant gene but the cells can’t adequately process the androgens (male sex hormones like testosterone). The expression of this condition ranges from a male with not fully masculinized genitals (partial AIS) to having female external genitalia but internal testes (complete AIS).

Ambiguous genitalia can also be caused by mutations in the genes encoding sex hormones or by the prenatal environment. A female fetus could experience clitoromegaly (enlarged clitoris) from an enlarged adrenal gland that produces excess androgens, or from a mother using anabolic steroids while pregnant.


Adequate comprehension of normal and abnormal sexual differentiation is essential to understanding DSDs. A summary of current knowledge regarding the embryology and classification of these conditions provides an appropriate introduction to the topic.

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The symptoms associated with intersex will depend on the underlying cause, but may include:

  • Ambiguous genitalia at birth
  • Micropenis
  • Clitoromegaly (an enlarged clitoris)
  • Partial labial fusion
  • Apparently undescended testes (which may turn out to be ovaries) in boys
  • Labial or inguinal (groin) masses — which may turn out to be testes — in girls
  • Hypospadias [the opening of the penis is somewhere other than at the tip; in females, the urethra (urine canal) opens into the vagina]
  • Otherwise unusual-appearing genitalia at birth
  • Electrolyte abnormalities
  • Delayed or absent puberty
  • Unexpected changes at puberty


  • Children with intersex, parents of those children, and adults with intersex should be treated in an open, shame-free, supportive, and honest way. They should consistently be told the truth (this includes providers being honest about uncertainty), and should be given copies of medical records as soon and as often as they ask for them.
  • Children and adults with intersex, and their family members, should be provided with access to trained psychologists and social workers, especially when they are in distress (as some parents of newborns with intersex are). Parental distress should not be treated with “normalizing” surgery on children, nor should surgeons, endocrinologists, and other non-psycho-social specialists attempt to cover family’s counseling needs.
  • Care providers should also attempt to connect children and adults with intersex and parents of children with intersex so that they can give each other peer support outside of the clinical setting. This helps validate their feelings and experiences. Peer support saves families and lives.
  • Following diagnostic work-up, newborns with intersex should be given a gender assignment as boy or girl, depending on which of those genders the child is more likely to feel as she or he grows up. Note that gender assignment does not involve surgery; it involves assigning a label as boy or girl to a child. (Genital “normalizing” surgery does not create or cement a gender identity; it just takes tissue away that they patient may want later.)
  • Medical procedures necessary to sustain the physical health of a child should be performed. Examples of these would be endocrinological treatment of a child with salt-wasting congenital hyperplasia, or surgery to provide a urinary drainage opening when a child is born without one.
  • Surgeries done to make the genitals look “more normal” should not be performed until a child is mature enough to make an informed decision for herself or himself. Before the patient makes a decision, she or he should be introduced to patients who have and have not had the surgery. Once she or he is fully informed, she or he should be provided access to a patient-centered surgeon.

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Ideally, a team of health care 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.

Parents should understand controversies and changes in treating intersex in recent years. In the past, the prevailing opinion was that it was generally best to assign a gender as quickly as possible, often based on the external genitals rather than the chromosomal gender, and to instruct the parents to have no ambiguity in their minds as to the gender of the child. Prompt surgery was often recommended. Ovarian or testicular tissue from the other gender would be removed. In general, it was considered easier to reconstruct female genitalia than functioning male genitalia, so if the “correct” choice was not clear, the child was often assigned to be a girl.

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.

By Medifit Education