Description

Atypical genitals, formerly called ambiguous genitalia is a rare condition in which a baby's genitals does not seem to be clearly male or female on the outside. In a baby with a genital atypical, the genitals may not be developed fully, or may have a different aspect of what is expected. Or the baby may have characteristics of more than one gender. The sex organs on the outside of the body may not coincide with the sexual organs on the inside. And may not coincide with the genetic sex, which is determined by the sex chromosomes: usually, XX for females and XY for males.

The external genitals are the sexual organs on the outside of the body. They include the opening of the vagina and the vaginal lips, clitoris, penis, and scrotum. Internal genitals are the sexual organs on the inside of the body. These include the vagina, the fallopian tubes, uterus, prostate, ovaries and testes. The sex hormones are made by the ovaries and testes, which are also called gonads. The genetic sex is established in function of the sex chromosomes. Normally, these sex chromosomes are a genetic female with two X chromosomes and a genetic male with an X and a Y chromosome.

Atypical genitalia isn't a disease; it is a difference of sex development. Generally, atypical genitalia can be seen at or shortly after birth. The condition can be very distressing for the families. Your medical team looking for the cause of atypical genitalia, and provides information and advice that can help to guide decisions about the sex of their baby and the necessary treatment.

Symptoms

Your medical team will likely be the first to observe atypical genitals soon after your baby is born. Sometimes, atypical genitalia can be suspected before birth. Atypical genitalia can vary in appearance. The differences depend on when during the development of the genitals of the hormone changes that affected the development occurred and the cause.

Babies who are genetically female, which means that they have two X chromosomes, you can have:

  • An enlargement of the clitoris, which may seem like a penis.
  • Closes lips, or lips that include folds and look like a scrotum.
  • Lumps that feel like the testes in the fusion of the lips.

Babies who are genetically male, which means that they have one X and one y chromosome, you can have:

  • A condition in which the narrow tube that carries urine and semen, called the urethra, it does not extend completely to the tip of the penis. If the opening of the tube is at the bottom of the penis, the condition is called hypospadias.
  • A very small penis with the opening of the urethra close to the scrotum.
  • One or both testicles are missing in what appears to be the scrotum.
  • The testes remain in the body, also called cryptorchidism, and an empty scrotum that has the appearance of lips with or without a micropenis.

Causes

Atypical genitalia is typically the case when the hormonal changes during pregnancy, stop or bother a fetus in the development of the sexual organs. A baby is called a fetus.

How the sexual organs are formed in the womb

A baby's genetic sex is established at conception, based on the sex chromosomes. Conception is when the egg of one of the parents is with a sperm from the father. The egg contains an x chromosome. The sperm contains either an X or a Y chromosome. A baby that receives the X chromosome of the sperm is a genetic female with two x chromosomes. A baby that receives the chromosome And the sperm is genetically male, with one X and one Y chromosome.

Male and female sex organs develop from the same tissue. If this tissue becomes male organs or the female organs depends on the chromosomes and the presence or absence of hormones called androgens. Androgens cause the development of male genitalia.

  • In a fetus with a y chromosome, a region in which the chromosome triggers the development of testes, which make the androgens. The male genitalia are developed in response to these hormones from the fetal testes.
  • In a fetus without a y chromosome, and without the effects of androgens, the genitals develop as women.

Sometimes a chromosomal rearrangement may make it difficult to determine the genetic sex.

How to atypical genitalia occurs

A change in the steps that influence the fetus gender in development can result in a lack of coincidence between the appearance of a baby's external genitalia and the baby's internal sex organs or genetic sex, normally XX or XY.

  • If a genetic male fetus does not make hormones called androgens or does not have enough of these hormones, it can cause atypical genitals. Exposure to androgens during development of a genetically female fetus results atypical external genitalia.
  • Changes in certain genes can affect fetal sexual development and causes atypical genitals.
  • Atypical genitalia can also be a feature of certain rare or complex syndromes that affect many organs. These syndromes may include changes in the chromosomes as the lack of a sex chromosome or an extra.

Sometimes it is not possible to find the cause of the atypical forms of the genitals.

Possible genetic cause of the females

Causes of atypical genitalia in genetic females can include:

  • Congenital adrenal hyperplasia. Some forms of this genetic disease cause the adrenal glands to produce too much of the hormones called androgens.
  • Exposure to certain hormones before birth. Some of the drugs that contain androgens or causing a pregnancy, the body of the person to make of these hormones can lead to the development of the female genital organs to be more masculine. A developing fetus may also be exposed to too much of the hormones that cause the development of male genitalia if the pregnant person has a condition that causes hormones to be out of balance.
  • Tumors. Rarely, a tumor in the pregnant person may produce hormones that cause the development of male genitalia.

Potential causes of genetic males

Causes of atypical genitalia in genetic males may include:

  • Problems with testis development. This may be due to changes in the genes or due to unknown causes.
  • Insensitivity to androgens. In this condition, the development of genital tissues do not respond as it should to the hormones produced by the testes.
  • Problems with the testicles or testosterone. The variety of problems that may interfere with the testicles of the activity. These may include problems with the way in which the testes are formed, and problems with the production of the hormone testosterone. This can also include problems with certain proteins in the cells that tell the cell to respond to the testosterone.
  • The 5-alpha-reductase deficiency. You do not have enough amount of this enzyme causes problems with the production of hormones that cause the development of male genitalia.

Risk factors

The family history may play a role in the development of atypical forms of the genitals. This is due to the fact that many of the differences of sex development a result of changes in the genes that are transmitted in families. Possible risk factors for atypical genitalia include a family history of:

  • Unexplained deaths in infancy.
  • Infertility, not having menstrual periods or having a large amount of facial hair in women.
  • Atypical genitals.
  • Atypical physical development during puberty.
  • Congenital adrenal hyperplasia, a group of genetic diseases that affect the adrenal glands, and are passed down in families.

If your family has a history of these risk factors, talk with your health care professional before trying to get pregnant. Genetic counseling can also help in planning ahead.

Complications

Complications of atypical genitalia may include:

  • The infertility. If the people with genital outliers can have children depends on the specific diagnosis. For example, the genetics of women with congenital adrenal hyperplasia usually can get pregnant if they so wish.
  • Increased risk of certain types of cancer. Some of the sex differences in development are linked with an increased risk of certain types of cancer.

Diagnosis

Atypical genitalia is usually diagnosed at birth or shortly after. Sometimes, health professionals may suspect atypical genitalia during pregnancy when the results of the blood tests of the baby's sex differ from the ultrasound images of the baby's genitals. But in general, the diagnosis is not made until after the birth. Health professionals who help with the delivery you can notice the signs of atypical genitalia in the newborn.

The determination of the cause

If your baby is born with genitals atypical, your doctor and other health professionals are working to find the cause. The cause helps to guide the treatment and decisions about the sex of your baby. Your health care professional begins by asking questions about their medical and family history. Your baby has a physical examination to test the testicles, and to assess the genitals.

Your baby will likely have the following tests:

  • Blood tests to measure hormone levels.
  • Blood tests to look for in the chromosomes. This can show the genetic sex: normally, XX or XY. These blood tests may also show the conditions caused by a change in the gene that affects the development of the sexual organs.
  • Ultrasound of the pelvis and abdomen to look for the testicles that have not descended, a uterus or vagina.
  • The studies of X-ray using a contrast medium to help to give a clear image of the pelvis and the abdomen of the structures.

Sometimes, minimally invasive surgery, it is necessary to collect a sample of tissue from your newborn baby in the reproductive organs. This surgery is performed through one or more small incisions using tiny cameras and surgical tools.

Decide the sex

Using the information obtained from these tests, your health care professional may suggest a gender of their baby. The proposal is based on the cause, sex, genetics, anatomy, future sexual and reproductive health, possible, probable adult gender identity, and the discussion with you.

Sometimes, a family can take a decision within a couple of days after birth. But it is important for families to wait until the exams have finished. Sex allocation can be complex and lengthy. Parents should be aware that as the child grows, the child can make a decision about the identification of gender.

Treatment

The goal of treatment is long-term mental health and social well-being, as well as the fact that the sexual function and fertility as possible. When to start treatment depends on your child's specific situation.

Atypical genitalia is complex and it is not common. The management may require a team of experts. The team might include:

  • The pediatricians.
  • Experts in preterm infants or with medical conditions, also called neonatologists.
  • Experts in children urinary system, also called urologists, pediatric.
  • Pediatric general surgeons.
  • Experts on the hormones of the body, also called endocrinologists.
  • Medical geneticists.
  • Mental health professionals, such as psychologists or social workers.

Medications

Hormonal medications can help to correct or manage hormones are out of balance. For example, in a genetic female, with a slight increase in the size of the clitoris caused by mild congenital adrenal hyperplasia, hormone replacement and perhaps the only treatment needed.

Surgery

In children with genital atypical, surgery may be used to:

  • Maintain healthy sexual function.
  • Create genitalia that appear more typical.

The time of the surgery depends on your child's specific situation. Some health professionals prefer to postpone the surgery is only about appearance. They suggest to wait until the person with genital atypical is mature enough to be part of the decision on the sex of assignment.

For children with genital atypical, the sex organs can function properly in spite of what the genitalia look on the outside. For the girls, if the vagina is hidden under the skin, for example, surgery in childhood can help with sexual function after. For children, surgery to reconstruct a partial development of the penis can create a typical appearance and make erection possible. The surgery to move the testes into the scrotum may be necessary.

Results of surgery are often satisfactory. But repeat surgery may be necessary. The risks include disappointing appearance or problems with sexual function, such as the difficulty to reach an orgasm.

Course of care

Children with genital atypical need of ongoing medical care. This includes the observation of complications, such as the provision of cancer screening tests in adulthood.

Coping and support

If your baby has atypical genitalia, you may worry that the baby in the future. Mental health professionals can help you to deal with the difference that you do not expect. Ask your child's healthcare provider for a referral to a mental health professional who has experience in helping people in your situation. You may also find it helpful to join a support group, either in person or online.

Your child may find continuous counseling by mental health professionals is useful and can choose to be part of support groups to adulthood.

Not to know the sex of your newborn baby right away you could turn the waiting for the celebration at a time of tension. Your medical team can provide you with updates and information as soon as possible. You can also answer the questions and talk with you about your child's health.

Consider waiting to make a formal announcement of the birth until the test is done and you have created a plan with the advice of his medical team. Give a little time to learn and think about the condition of your child before you answer questions from your family and friends.

Preparing for your appointment

If your baby is born with genitals atypical, you may be referred to a medical centre with doctors and other health care professionals that have experience in the management of this condition. Here's some information to help you prepare for your appointment and know what to expect.

What you can do

Before your appointment:

  • Ask if there is something that you need to do to prepare your baby for tests and procedures.
  • Talk about the history of the family with their blood relatives, such as parents, grandparents, and cousins, and bring key personal information, including family history of genetic disorders, such as atypical genitals.
  • Consider the possibility of a family member or friend. Sometimes it can be difficult to remember all the information provided during an appointment. Someone who goes with you may remember something that you missed or forgot.
  • Make a list of questions to ask your health care professional.

Questions may include:

  • What made my baby atypical genitalia?
  • What is genetic testing that has been done?
  • What other tests might my baby need?
  • What is the best treatment plan?
  • What are other options for primary treatment that you are suggesting?
  • Is there a generic option for the medicine you're prescribing?
  • There are special instructions should I follow?
  • Should my baby you see another specialist?
  • What options are there for the advice and support of our family?
  • Do you have any printed material that I can help you learn more? What websites do you suggest?

Feel free to ask questions during your appointment.

What to expect from your doctor

Your healthcare provider is likely to ask you questions, such as:

  • Does your family have a history of atypical forms of the genitals?
  • Does your family have a history of genetic diseases?
  • Do any health conditions tend to run in your family?
  • Have you ever had a miscarriage?
  • Have you ever had a child who died in infancy?

Be prepared to answer questions that you have time to talk about what's most important to you.

The symptoms and treatment of Atypical forms of the genitals