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Ambiguous genitalia : Causes-Symptoms-Diagnosis-Treatment


What is ambiguous genitalia?

An ambiguous genitalia is a rare condition in which an infant’s external genitals do not appear to clearly be either male or female In a baby with ambiguous genitalia the genitals may be incompletely developed or the baby may have characteristics of both sexes The external sex organs may not be clearly one gender or another (See Figure) Match the internal sex organs or genetic sex

What is ambiguous genitalia?
ambiguous genitalia

Ambiguous genitalia isn't a disease It's a disorder of sex development which occurs when the sex organs don’t develop in a normal way Usually ambiguous genitalia is obvious at or shortly after birth and it can be very distressing for families who have to deal with this situation Your medical team will look for the cause of ambiguous genitalia and provide information and counseling that will help you in your efforts to manage this condition as well as possible Your baby's gender and any other treatments can be determined by a genetic counselor.

  1. Female Reproductive System

  • Internal reproductive organs

  1. Ovaries

  2. Fallopian tubes

  3. Uterus

  4. Cervix

  5. Placenta

  • External reproductive organs

  1. Vulva

  2. Clitoris

  3. Vagina

Medical terms

  • Ambiguous genitalia is a rare condition where the physical characteristics of an infant’s external genitalia are neither clearly male nor female. It can be caused by chromosomal, genetic, or hormonal imbalances, and is often discovered shortly after birth. In some cases, the underlying cause of ambiguous genitalia is unknown. Treatment for this condition is multi-faceted and is based on the underlying cause.

  • Ambiguous genitalia refers to the ambiguous external appearance of an infant's genitalia at birth. It's a condition in which the gender of an infant is not clearly identifiable based on the appearance of external genitalia. In some cases, the affected individual may have a combination of male and female genitalia, while in others, the genitalia may be indeterminate. Ambiguous genitalia can be caused by a variety of factors, including genetic differences, environmental influences, and abnormal hormonal production.

Atypical genitalia, at one time called ambiguous genitalia, could be a rare disorder during which your newborn’s external crotch aren’t clearly defined. Your baby might not have the standard genitals of a male or a female. Your infant’s genitals may not have developed completely, or they will have options of each sexes.

  • Infants with atypical (intersex) genitals may have external genitals that don’t match their internal sex organs or genetic sex. Atypical genitalia is a

  • Infants with atypical (intersex) genitals may have external genitals that don’t match their internal sex organs or genetic sex. Atypical genitalia is a

  • Infants with atypical (intersex) genitals may have external genitals that don’t match their internal sex organs or genetic sex. Atypical genitalia is a distinction of sexual development (DSD.

  • Ambiguous genitalia is a condition that involves the external organs of the reproductive system not appearing to be clearly male or female. It is a birth defect that can be caused by hormonal imbalances in the womb, abnormal chromosome development, abnormal development of the external organs or any combination of these. It is a rare phenomenon, occurring in approximately 1 in 4,500 births with the gender of the baby being difficult to determine at birth. Treatment of the condition requires a multi-disciplinary team of specialists, including experts in endocrinology, genetics, and surgery.

Ambiguous genitalia (peculiar genitalia) will appear unique depending on the sex chromosomes affected. Ambiguous genitalia (atypical genitalia) in genetic women may also have the following functions:

  • An enlarged clitoris that seems like a small penis.

  • The urethral establishment (in which urine comes out) may not be within the ordinary place.

  • The “lips” of the vagina (labia) can be fused and look like a scrotum (a pouch that generally includes the testicles).

  • A lump of tissue within the labia that looks like a scrotum with testicles.

  • A penis doesn’t form or is very small and seems like an enlarged clitoris.

  • The urethral beginning (where urine comes out) can be at the base of the penis in preference to the top.

  • A small, separated scrotum that seems like labia.

  • Undescended testicles.

How do the sex organs normally form?

Your baby’s sex organs develop in 3 steps. First, your baby’s genetic sex is set once the sperm cell fertilizes the egg. The feminine parent shares an X chromosome and therefore the father shares either an X or a Y chromosome. Your baby is going to be assigned female at birth (AFAB) if an XX chromosome forms. Your baby can be assigned male at birth (AMAB) if an XY chromosome forms.

When your baby’s genetic sex is determined, your baby’s sex organs (gonads) form. A baby AFAB will develop ovaries, and a baby AMAB will develop testes. After that, your baby’s inner system (internal genitalia) and external genital organ form. Hormones from the ovaries or testes form your baby’s external genitals.

If the method unfolds differently, a distinction of sexual development (DSD) can occur. Hormones cause variations of sexual development. Either parent can pass down these hormones, or they'll haven't any clear cause.

Causes atypical genitalia (ambiguous genitalia)?

Hormonal irregularities throughout physiological state typically cause atypical genitalia. These irregularities interfere together with your fetus’s developing sex organs. Causes vary depending on the amount or combination of sex chromosomes that are present.


With forty six XX DSD, your baby’s internal sex organs embrace ovaries and a uterus, however their external sex organs might tally a penis and testicles. 46 XX happens once your baby is exposed to too many male hormones (androgens) when their external genital organs are forming. The foremost common explanation for 46 XX DSD may be a disorder referred to as inborn adrenal dysplasia (CAH). During this condition, your baby’s adrenal glands turn out in excessive amounts of androgens.


With forty six sex chromosome DSD, your baby’s internal sex organs are male however external sex organs are unclear. 46 XY happens once your baby’s testes don’t develop properly, they don’t create enough androgenic hormones or your baby’s body can’t use the testosterone correctly.

Symptoms Ambiguous genitalia

Doctors may be the first to recognize ambiguous genitalia soon after your baby is born Sometimes ambiguous genitalia can be suspected before birth (prenatal) Characteristics can vary in severity depending on when during development the problem occurred and the cause of the disorder

Genetically female (with two X chromosomes) may have:

  • An enlarged clitoris may appear to be a penis
  • Closed labia or labia that resemble a scrotum
  • Lumps that feel like testes in the fused labia

How sex organs form in the womb

A baby's genetic sex is established at conception based on the sex chromosomes The mother's egg contains an X chromosome and the father's sperm contains either an X or a Y chromosome If the father carries an X chromosome he passes it to his offspring through his sperm A baby who inherits the X chromosome from its father is a genetic female (two X chromosomes) A baby who inherits The Y chromosome is passed from the father The person who inherits the Y chromosome from the father is a genetic male (one X and one Y chromosome)

Male and female sex organs develop from the same tissue Whether this tissue becomes male organs or female organs depends on the chromosomes and the presence or absence of male hormones

  • In males a region on the Y chromosome triggers the development of testicles which produce male hormones that cause the male genitals to develop

  • In a fetus without the effects of male hormones the genitals develop as female

Sometimes a chromosomal abnormality may make determining genetic sex complex

How ambiguous genitalia occurs

When a disruption occurs in the steps that determine sex often the external genitals appear to be of the opposite sex This can lead to problems when it comes time for medical care related to sexual development

  • A lack of male hormones in a genetic male fetus can result in ambiguous genitalia and exposure to male hormones during development causes ambiguous genitalia in a genetic female

  • Mutations in certain genes can cause ambiguous genitalia

  • Chromosomal abnormalities such as a missing sex chromosome or an extra one can cause ambiguous genitalia

  • Sometimes the cause of ambiguous genitalia is not determined

Possible causes in genetic females

When ambiguous genitalia occur in a genetic female the causes may include:

  • Congenital adrenal hyperplasia.Certain forms of this genetic condition cause the adrenal glands to make excess male hormones (androgens)

  • Prenatal exposure to male hormones. Certain drugs that contain male hormones or that stimulate production of male hormones in a pregnant woman can cause developing female genitals to become more masculine which may lead to an intersex condition A developing baby too may be exposed to excess male hormones if the mother has a disease or condition that causes hormone levels to rise or fall in the body of the fetus People are skeptical of new ideas paraphrased: People are skeptical of new ideas

  • Tumors.A tumor in the mother can sometimes produce male hormones

Possible causes in genetic males

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  • Impaired testicle development.This may be due to genetic abnormalities or unknown causes.

  • Androgen insensitivity syndrome. In this condition, developing genital tissues don't respond normally to male hormones made by the testes.

  • It’s pretty hard to resolve conflicts

  • Abnormalities with testes or testosterone. Various abnormalities can interfere with the testes' activity. This may include structural problems with the testes, problems with production of the male hormone testosterone or problems with cellular receptors that respond to testosterone. 

  • 5a-reductase deficiency.This enzyme defect in the human body impairs normal male hormone production

Ambiguous genitalia can also be a feature of certain rare complex syndromes that affect many organ systems

Risk factors Ambiguous genitalia

Family history could play a role within the development of ambiguous reproductive organs, as a result of several disorders of sex development resulting from genetic abnormalities which will be inherited. doable risk factors for ambiguous genitalia embrace a case history of:

  • Unexplained deaths in early infancy
    Infertility, absent menstrual periods or excess facial hair in females

    • Genital abnormalities

    • Abnormal physical development during puberty

    • Congenital adrenal hyperplasia, a group of inherited genetic disorders that affect the adrenal glands

  • If your family has a history of these risk factors, consider seeking medical advice before trying to conceive. You may also benefit from genetic counseling.
    ComplicationsComplications of ambiguous genitalia may include:

    • Infertility. Whether people with ambiguous genitalia can have children depends on the specific diagnosis. For example, genetic females with congenital adrenal hyperplasia usually can get pregnant if they so choose.

    • Increased risk of certain cancers. Some disorders of sex development are associated with an increased risk of certain types of cancer.

Diagnosis Ambiguous genitalia

Ambiguous genitalia is usually diagnosed at the time of birth or shortly after For example a doctor or nurse may notice signs of ambiguous genitalia in your newborn baby

Determining the cause

Exam to check testes and evaluate genitalia of baby

Your medical team will likely recommend these tests: x-rays ultrasound CT scans and possibly bone marrow tests

  • Blood tests to measure hormone levels

  • The test to determine the genetic sex of a fetus or determine if a fetus has a single gene disorder

  • Ultrasound of the pelvis and abdomen to check for undescended testes and uterus or vagina

  • X-ray studies in which contrast dyes are used to help clarify the anatomy of the body

If your newborn’s reproductive organs are not functioning properly a doctor may have to perform surgery This is a very delicate procedure and only occurs when necessary

Determining the gender

Your doctor may suggest a sex for your baby based on gender anatomy and future reproductive and sexual potential

Sometimes the family makes a decision within a few days after the birth However it is important to wait until test results are completed Sometimes sex assignment can be complex and long-term impacts can be difficult to predict Parents should be aware that sometimes gender assignment may not be clear at birth and may become complex later in life If a child grows up in a family that does not support the gender identity it might decide to change their gender

Treatment Ambiguous genitalia

You may elect to begin treatment for ambiguous genitalia if you and your doctor have decided that you are female The goal is lifelong psychological and social well-being as well as the ability to achieve sexual function and fertility It depends on your child's particular situation

Ambiguous genitalia is uncommon and complex and it may require a team of experts


Medications may help correct or compensate for the hormonal imbalance such as in a genetic female with a slightly enlarged clitoris caused by mild to moderate congenital adrenal hyperplasia Proper levels of hormones may reduce the size of the tissue Other children may take medication after birth to reduce their risk of obesity diabetes and cardiovascular disease If you’re looking for a job and have no idea where to start don’t just send in an application It sounds simple but this is one of the most common mistakes made by people who are looking for a job or trying to get an interview You can make a pretty big difference by sending out something that’s more specific than the generic cover letter


In children with ambiguous genitalia surgery may be used to conduct a number of different procedures

  • Preserve normal sexual function

  • Create genitals that appear more typical

Surgery timing will depend on your specific situation Some doctors prefer to postpone surgery done for purely cosmetic reasons until the person is mature enough to participate in the decision about gender assignment

If the external genitalia are ambiguous the sex organs may work normally despite the ambiguous appearance If a girl’s vagina is hidden under her skin in childhood surgery can help with sexual function later For boys who are born with an incomplete penis surgery may normalize appearance and sexual function There are several surgical procedures to reposition the testes into the scrotum and restore erections

Here are the five steps to resolving a conflict

Ongoing care

Children with ambiguous genitalia require ongoing medical care and monitoring for complications, such as cancer screenings, into adulthood.

  1. Child medical and psychological care

Coping and support

If your child is diagnosed with ambiguous genitalia you may worry about your child's future Mental health professionals can help you deal with this difficult and unexpected challenge Ask your child’s doctor for a referral to a mental health professional who has experience helping people in similar situations paraphrased: paraphrased:

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It is important to know the gender of your baby as soon as possible Your medical team will provide you with updates and information including any tests that may be necessary to help you settle any questions about your child’s health

Consider delaying a formal announcement of the birth until testing is complete and you have developed a plan with advice from your medical team Give yourself some time to learn about the issue and consider what questions you might be asked by family friends and coworkers

Preparing for your appointment

If your baby was born with ambiguous genitalia, you will be noted by doctors who have experience during this condition. Here's some data to assist you make preparations for your appointment and learn what to expect from your doctor.

What you can do

Before your appointment:

  • Make sure to ask if there is anything you need to do in advanceTo prepare your infant for tests and procedures

  • Tell your relatives about family history and bring key personal informationGenetic conditions include those that are caused by genetic mutations hereditary diseases or conditions inherited from a family member

  • Sometimes it can be difficult to remember all the information provided during an appointment Someone who accompanies you may remember something that you missed or forgot

  • Make a list of questions to ask your doctor.

  • What caused my baby's uncertain genitalia?

  • What genetic testing has been completed?

  • What other tests might my baby need?

  • What is the best course of action?

  • What are the other possible approaches for resolving conflicts? What alternatives have you considered?

  • Is there a generic alternative to the medicine you're prescribing?

  • Are there any restrictions that my baby needs to follow?

  • Should I see any other specialists for my baby?

  • What options are there for counseling and support for our family?

  • Do you have brochures or other printed materials that I can have? What websites do you recommend?

What to expect from your doctor

Your doctor may ask you a few questions such as:

  • Have you or your family had ambiguous genitalia?

  • Are you part of a family with a history of other genetic diseases?

  • Are there any diseases or conditions in your family?

  • Have you ever had a miscarriage?

  • Have you ever lost a child?

Allow more time to answer questions or you will run out of time to cover other points

General summary

  1. Children born with ambiguous genitalia have both male and female characteristics It is always a serious condition since the infant may need urgent medical treatment to ensure its survival The cause of ambiguous genitalia can be genetic or environmental Chromosomal abnormalities that result in an extra Y chromosome (XXY XXXY) are often connected with this disorder Another cause is exposure to diethylstilbestrol (DES) a synthetic estrogen drug prescribed between 1940 and 1971 to prevent miscarriage during pregnancy In males this prenatal exposure can lead to undescended testicles and an enlarged prostate gland after puberty In females it can lead to an.

  2. Ambiguous genitalia means a newborn's sex organs do not look clearly male or female The cause of ambiguous genitalia can be genetic hormonal environmental or a combination of these things In many cases parents will choose to raise the child as either a boy or girl without knowing for sure which gender the child is Many times surgery is done after puberty so that the child can have sex-specific organs and appear more masculine or feminine.

  3. Ambiguous genitalia is a term used to define the anatomy of an infant born with genitals that are not easily identifiable as either male or female The lack of clear gender differentiation in children can be unsettling and confusing to parents while making it difficult for medical professionals to determine what course of treatment will be required This problem may occur when genetic sex does not match the phenotype or physical appearance of the child In most cases no specific cause for ambiguous genitalia appears but there have been some instances where this condition has been linked to environmental factors or genetic syndromes Confirmation that an infant's development was normal during pregnancy.

  4. Ambiguous genitalia is a condition that involves the external organs of the reproductive system not appearing to be clearly male or female. It is a birth defect that can be caused by hormonal imbalances in the womb, abnormal chromosome development, abnormal development of the external organs or any combination of these. It is a rare phenomenon, occurring in approximately 1 in 4,500 births with the gender of the baby being difficult to determine at birth. Treatment of the condition requires a multi-disciplinary team of specialists, including experts in endocrinology, genetics, and surgery.

  5. Ambiguous genitalia is a condition in which a newborn's external genitalia do not have the typical appearance of either a boy or a girl. This can be due to a genetic abnormality or a chromosomal disorder. The cause of ambiguous genitalia is usually unknown, but can be caused by abnormalities in the development of the hypothalamus, pituitary gland, or the adrenal glands. In some cases, the newborn’s internal reproductive structures are not consistent with the external genitalia, which can complicate diagnosis and treatment.

  6. Ambiguous genitalia is a medical condition in which the gender of an infant cannot be determined at birth. This can be caused by a chromosomal abnormality, hormonal imbalance, or a structural abnormality of the genitals. While it is not possible to accurately identify the gender at birth, a doctor will be able to offer guidance and recommend a course of treatment that may involve surgery. The surgery will typically be delayed until the child is old enough to make decisions about their gender identity.

Ambiguous genitalia : Causes-Symptoms-Diagnosis-Treatment

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