Ambiguous Genitalia — Know It All!


All you need to know about Ambiguous Genitalia disease.

Know your ailment well, so you can manage it better!!

Here we come with Ambiguous Genitalia today!

What is Ambiguous Genitalia?

If the gender of an infant is in doubt at birth, since the genitals do not distinctly appear male or female, it is said that the child has ambiguous genitals. For parents, unclear genitalia may be a traumatising experience.

Early in foetal development, based on the biology of the embryo, the tissue that will become the gonads (ovaries or testes) is undifferentiated and has the ability to become either ovaries or testes. Humans have 46 chromosomes, or 23 pairs, in each cell of their body. Our gender is determined by the 23rd pair; females have two X chromosomes, while males have one X chromosome and one Y. In humans, the chromosome complement is written as follows: 46, XX, normal female or 46, XY, normal male.

On the short arm (top half) of the Y chromosome, there is a gene called ‘SRY,’ which, if present, can cause the undifferentiated gonad to become testes (indicating a male) during the foetal 6th week of life. Regression of what may have become the female reproductive tract happens at the same time. The phallus (penis), scrotum and urethra develop as the testes create testosterone. Later, the testicles will descend into the scrotum during the 7th or 8th month of pregnancy.

The gonad can distinguish into an ovary in the absence of the SRY gene (indicating a female). The female reproductive tract, forming the uterus and fallopian tubes, will begin to develop as well. Regression of what may have been the male sexual organs happens at the same time.

This growth may be affected by a number of genetic and environmental causes, contributing to unclear genitalia. As the word implies, ambiguous genitalia can make it more difficult to decide the gender of the foetus. A few children with undefined genitals have genitals that are so ambiguous that at birth a declaration of gender is not produced. The following findings at birth are much more popular:

A girl that tends to have a tiny penis with extreme virilization (overproduction of male hormones).

A man with an extraordinarily tiny penis that looks like a female clitoris (due to an insensitivity to male hormones or failure to produce male hormones).

What causes Ambiguous Genitalia?

Ambiguous genitalia mainly develops as hormonal abnormalities disrupt or disturb the production of sex organs by the foetus during pregnancy.

How do sex organs develop in the womb?

The genetic sex of a baby is determined, based on the sex chromosomes, at conception. There is an X chromosome in the mother’s nucleus, and the father’s sperm comprises either an X or a Y chromosome. An infant who inherits a father’s X chromosome is a hereditary female (two X chromosomes). An infant who inherits a father’s Y chromosome is a genetic male (one X and one Y chromosome).

From the same tissue, male and female sex organs form. It depends on the genes and the involvement or lack of male hormones whether this tissue becomes male organs or female organs.

An area on the Y chromosome allows testicles to form in males, and contain male hormones. In response to male hormones from the foetal testicles, masculine genitals grow.

The genitals develop as females in a pregnancy lacking a Y chromosome, without the influence of male hormones.

Occasionally, a chromosomal abnormality can make genetic sex determination difficult.

How Ambiguous Genitalia Occurs?

The mismatch between the presence of the external genitals and the internal sex organs or the genetic sex will result in a disturbance of the steps that determine sex (XX or XY).

A lack or imbalance of male hormones may induce ambiguous genitalia in a genetic male foetus, while exposure to male hormones results in ambiguous genitalia in a genetic female during development.

Mutations in some genes can affect the development of foetal sex and cause unclear genitals.

Chromosomal anomalies may also cause unclear genitalia, such as a defective sex chromosome or an additional one.

The cause of ambiguous genitalia can not be known in certain instances.

Possible factors of females with hereditary reasons:

Causes in a genetic girl with unclear genitalia can include:

  • Adrenal congenital hyperplasia. Any types of this genetic disorder activate excess male hormones from the adrenal glands (androgens).
  • Prenatal Male Hormone Penetration. Some medications containing male hormones or stimulating the development of male hormones in a pregnant woman may make it more masculine to grow female genitals. If the mother has an illness or disorder that induces hormone deficiency, a newborn baby will even be prone to excess male hormones.
  • With cancers. Male hormones will rarely be created by a tumour in the mother.

Possible triggers of males with hereditary reasons:

Causes in a genetic male with unclear genitalia can include:

  • Impaired growth of the testicle. This may be attributed to inherited anomalies or factors that are unexplained.
  • syndrome with androgen insensitivity. The production of genital tissues in this condition does not usually respond to male hormones generated by the testes.
  • Testicular or testosterone defects. Different irregularities can interfere with the operation of the testes. This may include structural testing issues, problems with the synthesis of the male hormone testosterone, or problems with testosterone-responsive cellular receptors.
  • Deficiency in 5a-reductase. This deficiency in the enzyme impairs the regular development of male hormones.
  • Any unusual, complex syndromes that affect multiple organ systems may also be a characteristic of ambiguous genitalia.

What are the symptoms of Ambiguous Genitalia?

Soon after the baby is conceived, the medical team will possibly be the first to identify unclear genitalia. Ambiguous genitals can sometimes be suspected before birth (prenatally). Characteristics can vary in severity, depending on where the condition has arisen during genital development and the cause of the disorder.

Babies who (with two X chromosomes) are genetically feminine could have:

  • A swollen clitoris that can appear like a penis
  • Closed lips, or lips that contain folds that mimic a scrotum
  • Lumps that sound like fused labia testicles
  • Babies that are genetically male (with chromosomes of one X and one Y) may have:
  • A disorder in which the short tube containing urine and semen (urethra) does not stretch entirely to the tip of the penis (hypospadias)
  • An abnormally thin penis near to the scrotum with the urethral opening
  • In what seems to be the scrotum, the omission of either or both testicles
  • Undescended testicles and a hollow scrotum with or without the presence of a micropenis labia

What are the Complications of Ambiguous Genitalia?

Ambiguous genitalia complications can include the following:

  • Infertility. Infertility The exact diagnosis depends on whether people with unclear genitalia may have babies. Genetic females with congenital adrenal hyperplasia, for example, will usually get pregnant if they want to.
  • Increased risk of certain cancers. Any sex growth defects are associated with an elevated risk of certain cancer types.

What are the Risk Factors for Ambiguous Genitalia?

Family history can play a role in the development of ambiguous genitals, since genetic defects that can be inherited result in many disorders of sex development. The family history of potential risk factors for unclear genitalia includes:

  • Unexplained early childhood deaths
  • Infertility, lack of menstrual cycles in females or excess facial hair
  • Abnormalities of the genitals
  • During puberty, irregular physical growth
  • A group of hereditary genetic abnormalities affecting the adrenal glands, congenital adrenal hyperplasia
  • Before starting to conceive, consider receiving medical advice if your family has a history of these risk factors. Genetic therapy can also help you.

How is Ambiguous Genitalia diagnosed?

At birth or soon afterwards, ambiguous genitals are usually diagnosed. The symptoms of unclear genitalia of your newborn may be found by doctors and nurses who assist with childbirth.

Determination of Trigger/ Reason?

Doctors will work to ascertain the causal cause if your baby is born with unclear genitalia. The cause helps direct the care and decisions about the gender of your infant. It is possible that your doctor will begin by asking your family and medical background questions. He or she will conduct a physical examination to screen for tests and measure the genitalia of your infant.

Both tests would definitely be prescribed by the medical team:

  • Blood testing to assess levels of hormones
  • Blood tests for chromosome analysis and genetic sex selection (XX or XY) or single-gene disease tests
  • Pelvic and vaginal ultrasound to scan for undescended testicles, uterus or vagina
  • To further explain anatomy, X-ray tests using a contrast dye
  • In certain cases, the collection of a tissue sample of the reproductive organs of your newborn may require minimally invasive surgery.

Gender-Determining Tests

Your doctor may prescribe a gender for your baby using the information obtained from these tests. The plan would be focused on the cause, genetic sex, anatomy, possible reproductive and sexual capacity, likely identity of adult gender, and conversation with you.

In some cases, within a few days after birth, a family can make a decision. It’s crucial, though, that the family wait until the test results are over. Gender distribution can also be confusing and it can be hard to forecast the long-term effect. Parents should be careful that as the child grows up, he or she will make a new gender identity choice.

What is the treatment for Ambiguous Genitalia?

You may want to start therapy for unclear genitals after you and your doctor have selected a gender for your infant. Long-term psychological and social well-being is the objective of therapy, as well as allowing sexual function and fertility to the maximum possible degree. The timing to start therapy depends on the particular circumstances of your infant.

Ambiguous genitals are rare and complex, and a team of specialists may be needed. A paediatrician, neonatologist, paediatric urologist, general paediatric surgeon, endocrinologist, geneticist, psychologist or social worker may be part of the team.


Hormone medications can help to fix the hormonal imbalance or compensate for it. For eg, proper hormone levels may decrease the size of the tissue in a genetic female with a slightly enlarged clitoris caused by a small to moderate case of congenital adrenal hyperplasia. About the time they will usually undergo puberty, other children may take hormones.


Surgery can be used in children with undefined genitals for:

  • Maintain natural sexual functions
  • Develop more traditional genitals that show
  • The timing of surgery will depend on the particular case of your infant. Few physicians tend to delay surgery performed purely for aesthetic purposes before the person with ambiguous genitals is adequately mature to take part in the gender assignment decision.

For girls with ambiguous genitals, considering the ambiguous physical appearance, the sex organs can function normally. If the vagina of a girl is covered under her clothing, childhood surgery can later help with sexual function. Surgery to repair an incomplete penis will normalise the appearance of boys and make erections possible. Surgery may be necessary to reposition the testicles in the scrotum.

Surgery outcomes are always rewarding, but later, repeated surgery may be required. Risks involve a negative cosmetic outcome or sexual impairment, such as reduced orgasm-attaining capacity.


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