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Ambiguous genitalia is a birth defect where the outer genitals do not have the typical appearance of either a boy or a girl.
The genetic sex of is determined at conception. The mother's egg cell contains an X chromosomewhile the father's sperm cell contains either an X or a Y chromosome. These X and Y chromosomes determine the child's genetic sex.
Normally, an infant inherits 1 pair of sex chromosomes, 1 X from the mother and 1 X or one Y from the father. The father "determines" the genetic sex of the. A baby who inherits the X chromosome from the father is a genetic female and has 2 X chromosomes. Extremely large clitoris baby who inherits the Y chromosome from the father is a genetic male and has 1 X and 1 Y chromosome. The male and female reproductive organs and genitals both come from the same tissue in the fetus.
Ambiguous genitalia can develop if the process that causes this fetal tissue to become "male" or "female" is disrupted.
This makes it hard to easily identify the infant as male or female. The extent of the ambiguity varies. Very rarely, the physical appearance may be fully developed as the opposite of the genetic sex.
For example, a genetic male may have developed the appearance of a normal female. In most cases, ambiguous genitalia in genetic females babies with 2 X chromosomes has the following features:. In a genetic male 1 X and 1 Y chromosomeambiguous genitalia most often include the following features:. With a few exceptions, ambiguous genitalia is most often not life-threatening.
However, it can create social problems for the child and family. For this reason, a team of experienced specialists, including neonatologists, geneticists, endocrinologists, and psychiatrists or social workers will be involved in the Extremely large clitoris care. Because of the potential social and psychological effects of this condition, parents should make a decision about whether to raise the child as a male or female early after diagnosis. It is best if this decision is made within the first few days of life. However, this is an important decision, so parents should not rush it.
Contact your health care provider if you are concerned about the appearance of your child's external genitalia, or your baby:. Ambiguous genitalia may be discovered during the first well-baby exam. The provider will perform a physical exam which may reveal genitals that are not "typical male" or "typical female," but somewhere in between. The provider will ask medical history Extremely large clitoris to help identify any chromosomal disorders.
Questions may include:. Genetic testing can determine if the child is a genetic male or female. Often a small sample of cells can be scraped from inside the child's cheeks for this testing. Examining these cells is often enough to determine the genetic sex of the infant. Chromosomal analysis is a more extensive test that may be needed in more questionable cases. Endoscopyabdominal x-rayabdominal or pelvic ultrasound, and similar tests may be needed to determine the presence or absence of the internal genitals such as undescended testes.
Laboratory tests may help determine how well the reproductive organs are functioning. This can include tests for adrenal and gonadal steroids. In some cases, laparoscopyexploratory laparotomyor biopsy of the gon may be needed to confirm disorders that can cause ambiguous genitalia. Depending on the cause, surgery, hormone replacement, or Extremely large clitoris treatments are used to treat conditions that can cause ambiguous genitalia. Sometimes, the parents must choose whether to raise the child as male or female regardless of the child's chromosomes.
This choice can have a big social and psychological impact on the child, so counseling is most often recommended. Note: It is often technically easier to treat and therefore raise the child as female. This is because it is easier for a surgeon to make female genitalia than it is to make male genitalia.
Therefore, sometimes this is recommended even if the child is genetically male. However, this is a difficult decision. You should discuss it with your family, your child's provider, the surgeon, your child's endocrinologist, and other health care team members. Disorders of sexual development: etiology, evaluation, and medical management.
Campbell-Walsh Urology. Philadelphia, PA: Elsevier; chap Rey RA, Josso N. Diagnosis and treatment of disorders of sexual development. Endocrinology: Adult and Pediatric. Philadelphia, PA: Elsevier Saunders; chap White PC. Disorders of sexual development. Goldman-Cecil Medicine. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM, St.
Extremely large clitoris Textbook of Pediatrics. Updated by: Neil K. Editorial team. Ambiguous genitalia. Extremely large clitoris most cases, ambiguous genitalia in genetic females babies with 2 X chromosomes has the following features: An enlarged clitoris that looks like a small penis. The urethral opening where urine comes out can be anywhere along, above, or below the surface of the clitoris. The labia may be fused and look like a scrotum.
The infant may be thought to be a male with undescended testicles. Sometimes a lump of tissue is felt within the fused labia, further making it look like a scrotum with testicles. The urethral opening may be anywhere along, above, or below the penis. It can be located as low as the perineum, further making the infant appear to be female.
There may be a small scrotum that is separated and looks like labia. Undescended testicles commonly occur with ambiguous genitalia. Causes for ambiguous genitalia includes: Pseudohermaphroditism. The genitalia are of one sex, but some physical characteristics of the other sex are present. True hermaphroditism. This is a very rare condition, in which tissue from both the ovaries and testicles is present. The child may have parts of both male and female genitals. Mixed gonadal dysgenesis MGD.
This is an intersex condition, in which there are some male structures gonad, testisas well as a uterus, vagina, and fallopian tubes.
Congenital adrenal hyperplasia. This condition has several forms, but the most common form causes the genetic female to appear male. Many states test for this potentially life-threatening condition during newborn screening exams. If the mother takes certain medicines such as androgenic steroidsa genetic female may look more male. Lack of production of certain hormones can cause the embryo to develop with a female body type, regardless of genetic sex.Extremely large clitoris
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