Mature Individual

Born With Ambiguous Genitalia

Female examining ambiguous genitalia

Under two percent of infants include atypical sex organs. What are the criteria for determination? Who decides the gender of infants, and what does it look like?

⚠️ Use Discretion: Graphic human anatomy.

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Over 3.3 Million Intersex In United States

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A small number of human anatomy posters and models on this website depict average male genitals and female genitalia. Real-world differences reveal significant vari­ance. About 1% of U.S. infants are born with atypical sex organs. [1] (Worldwide, the ratio can be as high as 2%.) Among an audito­rium of 2,000 U.S. citizens, 20 were born with “ambiguous genitalia.” Two of those had gender “normalizing” surgery shortly after birth.*

An individual with ambiguous genitalia (herma­phro­dite misnomer, now termed Ovotestis) falls within the larger category of intersex, estimated to comprise nearly 3.3 million persons in the United States. Sometimes the term Variations in Sex Characteristics (VSC) is used, as is Disorders of Sex Development or Diverse Sex Development (DSD). [2–3]

Intersex Classifications [3–4]
  • Externally female with mostly male internal anatomy.
  • Girl (XX) born with a macroclitoris (clitoromegaly).
  • Boy (XY) born with a micropenis.
  • Girl (XX) born without a vaginal opening.
  • Boy (XY) born with divided labia-like scrotum.
  • Child born with mosaic genetics, so that some cells have XX chromosomes and others have XY.

Infantile Testicular Hydrocele

Primary Hydrocele

At birth, each male testicle normally descends within separate fluid-filled sacs. More commonly among premature births, the sac does not seal completely. This results in fluid accumulation outside of the sac called a communi­cat­ing hydrocele. A non­communicat­­ing hydrocele occurs when the sac surrounding the testicle closes, but the fluid is not absorbed. [5,6]

Hydrocele
Though testicle enlargement from hydrocele (left) is abnormal, gender is unambiguous. A micropenis (right) is surgically altered into a clitoris if shorter than 1 inch (2.5 cm).

The hydrocele scrotum is dispro­portionate­ly large in comparison to the penis. In rare cases, similar fluid collections can develop in females along the canal of Nuck—an abnormal open pouch of peritoneum extending into the labia majora. Most (80%) of congenital hydroceles resolve spontane­ously before 2 years of age. [7,8]

Secondary Hydrocele

A hydrocele can occur in adults as a result of syphilis, tubercu­losis of the epididymis, the tropical disease caused by threadlike parasites called filarial worms (filariasis), cancer, or because of an injury. If a hydrocele does not resolve itself, a surgery called hydrocelectomy may be necessary.

Awkward Puberty

Puberty is when gender differences become most apparent, and some­times when ambiguity is manifest. However, some people with intersex anatomy live a full life without anyone (includ­ing themselves) ever knowing about their atypical internal anatomy.

External organs may be unambiguous but not match the anatomy inside, contributing to the vast intersex community. [9] There is a significant variance in mature sexual organs.

Unassigned children might delay having appro­priate surgeries until their teenage years or adulthood. By then, they may have already identified with a gender that differs from what matures during puberty. Hairstyles, makeup, and attire can sometimes mask gender.

The adolescents do not have to be homo­sexual, though many forgo surgical assign­ment and identify as non-binary, intersex, andro­gynous, bisexual, or LGBTQ+. They may explore polyamorous or polyamory relationships.

The absence of gender identity often leads to bullying and emotional issues. Anxiety and depression in sexual minority individuals appear to be more than double those of their hetero­sexual counterparts. [9,10]

People with Swyer syndrome (ratio 1:80000) are born with XY (male) chromo­so­mal makeup. Because of the high risk of cancer developing in non-functional streak gonads, surgical removal of male organs is commonly recommended.

Women with Swyer syndrome have minimal breast development. They don’t go through typical puberty, or experience menarche. So, without inter­ven­tion, they are infertile.

Because they do not have functional ovaries, affected individuals usually start hormone replacement therapy during adolescence to induce menstruation and the development of female secondary sex characteristics such as breast enlargement and uterine growth. [11]

Someone with Swyer syndrome can get pregnant with medical assistance. Using a process called intracytoplasmic sperm injection (ICSI), a tiny needle, called a micropipette, injects a single sperm into the center of an egg.

Gender neutral child
Gender neutral child photo by Sharon McCutcheon from Unsplash.

Swyer syndrome causes women to be much taller and broader than their peers, with large hands and feet. On a basic genetic level, they are male. However, since the condition is rarely diagnosed before the teen years, most identify as female even after diagnosis. They may battle sapphic feelings. Revealing to a male mate the genetic inconsistency can cause anxiety because there is a fear of rejection. [11]

Vaginal agenesis is a rare in-utero disorder that occurs when the vagina doesn't develop, and the womb (uterus) may only develop partially, if at all. It can appear as a small pouch or dimple where the vagina should be.

Many girls with vaginal agenesis decide after puberty begins to have doctors create a vagina (pocket) utilizing a vaginal dilator. Though infertile, orgasmic function is possible since the clitoris and the external genitalia form normally. [12]

Hypospadias occurs when the urinary opening (urethra) is located below the usual position on the tip of the penis. It is one of the more frequent and visible genital varia­tions. Hypospadias is the most common birth differ­ence in child­ren with XY chromosomes, seen in 1 out of 300 live births. [13]

Intersex Sports Athletes

Intersex competition has upset Olympic sports since the 1930s. In the 1936 games, British female shot putter and javelin thrower Mary Louise Edith Weston and the Czechoslovakian female runner Zdenka Koubkova had each been born with dual bio­logical sex traits. Later, they both surgically transitioned to men. This sparked popular biological gender testing in competitive sports. [14]

Today, Caster Semenya, a South African middle-distance champion, and Dutee Chand, the Indian sprinter are intersex athletes competing without surgical alter­ation. They are barred from certain competitions.

Annet Negesa of Uganda identifies as female. She was born with both external female genitalia and internal male gonads that produce levels of testos­terone equivalent to men. Negesa had a gonad­ec­tomy to continue racing against women, but the reduction of testos­terone derailed her sports success. [15]

Castor Semenya
Castor Semenya, South African middle-distance track runner with dual-biological sex traits competes as a female. Semenya married her wife Violet Raseboya in 2015.

Who Decides Gender?

Now imagine your obstetrics doctor has delivered the 99th baby at the hospital in which you are admitted. Your child is number 100—the approxi­mate ratio for inter­sex births. In the delivery room, there is a delay in the announce­ment that you are now a proud parent of the healthy baby boy you expect. Nurses whisk the infant away for a few snips and stitches.

Prader stages
Prader stages provide guidelines for physicians in determining infant gender. The vagina is present at all five stages in the lateral cross-section diagram.

Controversially, many doctors decide the gender of inter­sex infants based on published Prader stages and medical tests without the parents’ knowledge. If the child has a Y chromo­some and an ade­quate or “recon­structable” penis, the child is assigned a male gender. Full-term new­borns must have penises of 1 inch (2.5 cm) or larger to be assigned the male gender. [16–19]

Macroclitoris
Two variations of clitoromegaly. Individual appearance differs. Which gender do you choose?

If the child has no Y chromo­some, it is assigned the female gender. If the child has a Y chromo­some and an inadequate or “unrecon­structable” penis according to doctors, the child is likewise assigned a female gender and surgically “recon­structed” as such.

Surgeons alter the genitals to resemble what doctors think female genitals should look like. This may include clitoral reduc­tion surgery and construc­tion of a vaginal opening.

The gender criteria seem pretty scientific but there are occasional anomalies in the chromosomes. Humans are born with 46 chromosomes in 23 pairs. Most women are 46XX and most men are 46XY. Research suggests, however, that in a few births per thousand, some individuals will be born as sex monosomies with a single sex chromosome (45X or 45Y).

Other babies are born as sex polysomies with three or more sex chromosomes (47XXX, 47XYY, or 47XXY, etc.). Some males are born 46XX. Females are also born 46XY due to mutations in the Y chromosome. Hence, there are not only females who are XX and males who are XY, but rather, there is a range of chromo­some com­ple­ments, hormone balances, and phenotypic varia­tions that determine sex, concludes the World Health Organization. [19,20]

You anticipate a baby boy. When the doctor finally arrives in your hospital room with your newborn baby girl, there is some confusion but you are happy to hold her. Nurses assure you that this is your baby. What happens later during puberty?

Doctors can prescribe hormones to direct female develop­ment. Later, as an adult, your “daughter” may be unable to conceive. For these and other reasons, organiza­tions like InterACT recommend leaving infants unaltered at birth.

As a parent, do you feel that you should share in the discussion of gender assign­ment right after birth? In Canada, parents of one intersex infant were brought into a room of 30 intimidating medical specialists. They offered opinions before a urologist adamantly pressed for female assignment surgery.

A social worker cautioned against sharing this secret with siblings. Some parents opt for gender X on their child’s birth certificate. About 7,000 intersex adults have gender-X IDs. [21,22]

Social and biological considerations complicate early Variations in Sex Characteristics (VSC) determinations. It can spoil plans for a gender-reveal party. Bianca Karvunidis, the very first gender-reveal baby girl, is now more comfortable wearing andro­gy­nous suits. Her mother regrets beginning the popular trend in 2008. [23]

Eric and Stephani have been talking to their child Rosie about her dual-biologic condition for years, but she is only beginning to under­stand that her body differs from the other children in her kindergarten class.

Her parents frame the discussion in the context that all bodies are different. Not yet reaching puberty, so far Rosie has no concerns over her genetic differences. [24]

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To support the writing of useful articles about individual, ClinicalPosters sells human anatomy charts, scientific posters, and other products online. You may sponsor specific articles or remit a small donation.

ClinicalPosters sells human anatomy charts, scientific posters, and other products online to offset expense of the writing useful articles about individual. Slide extra posters into DeuPair Frames without removing from the wall.

ClinicalPosters sells human anatomy charts, scientific posters, and other products online. You may remit a small donation.

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*Estimated statistics vary due to unreported cases and geographic prevalence. Australia reports 1.7% of all live births as intersex. [25]

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