BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuAmbiguous genitaliaGenitals - ambiguousAmbiguous genitalia is a birth defect where the outer genitals do not have the typical appearance of either a boy or a girl. Considerations The genetic sex of a child is determined at conception. The mother's egg cell contains an X chromosome, while the father's sperm cell contains either an X or a Y chromosome. These X and Y chromosomes determine the child's genetic sex.ChromosomeChromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA is the material that holds genes. It is the bu...ImageRead Article Now Book Mark Article 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 child. A baby who inherits the X chromosome from the father is a genetic female and has 2 X chromosomes. A 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:An enlarged clitoris that looks like a small penis. PenisThe penis is the male organ used for urination and sexual intercourse. The penis is located above the scrotum. It is made of spongy tissue and bloo...ImageRead Article Now Book Mark Article 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. ScrotumThe scrotum is a part of a male's body that is located below the penis. The scrotum is the sac (pouch) that contains the testes, epididymis, and the...ImageRead Article Now Book Mark Article The infant may be thought to be a male with undescended testicles. TesticlesThe testes are 2 egg-shaped male reproductive organs located in the scrotum. They produce sperm and the male hormone, testosterone.ImageRead Article Now Book Mark Article Sometimes a lump of tissue is felt within the fused labia, further making it look like a scrotum with testicles. In a genetic male (1 X and 1 Y chromosome), ambiguous genitalia most often include the following features:A small penis (less than 2 to 3 centimeters, or 3/4 to 1 1/4 inches) that looks like an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth). 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. 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 child's care. Causes Causes for ambiguous genitalia includes:Pseudohermaphroditism. The genitalia are of one sex, but some physical characteristics of the other sex are present. PseudohermaphroditismIntersex is a group of conditions in which there is a discrepancy between the external genitals and the internal genitals (the testes and ovaries). T...Read Article Now Book Mark Article 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, testis), as 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. Congenital adrenal hyperplasiaCongenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland.ImageRead Article Now Book Mark Article Chromosomal abnormalities, including Klinefelter syndrome (XXY) and Turner syndrome (XO). Klinefelter syndromeKlinefelter syndrome is a genetic condition that occurs in males when they have an extra X chromosome.ImageRead Article Now Book Mark Article Turner syndromeTurner syndrome is a rare genetic condition in which a female does not have the usual pair of X chromosomes.ImageRead Article Now Book Mark Article If the mother takes certain medicines (such as androgenic steroids), a 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. EmbryoLearn how your baby is conceived and how your baby develops inside the mother's womb.ImageRead Article Now Book Mark Article Lack of testosterone cellular receptors. Even if the body makes the hormones needed to develop into a physical male, the body cannot respond to those hormones. This produces a female body type, even if the genetic sex is male. TestosteroneA testosterone test measures the amount of the male hormone, testosterone, in the blood. Both men and women produce this hormone. The test described...Read Article Now Book Mark Article Home 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. When to Contact a Medical Professional Contact your health care provider if you are concerned about the appearance of your child's external genitalia, or your baby: Takes more than 2 weeks to regain his or her birth weight Is vomiting Looks dehydrated (dry inside of mouth, no tears when crying, less than 4 wet diapers per 24 hours, eyes look sunken in) Has a decreased appetite Has blue spells (short periods when a reduced amount of blood flows into the lungs) Has trouble breathing These can all be signs of congenital adrenal hyperplasia.Congenital adrenal hyperplasiaCongenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland.ImageRead Article Now Book Mark Article Ambiguous genitalia may be discovered during the first well-baby exam.Well-baby examChildhood is a time of rapid growth and change. Children have more well-child visits when they are younger. This is because development is faster d...ImageRead Article Now Book Mark Article What to Expect at Your Office Visit 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 questions to help identify any chromosomal disorders. Questions may include:Is there any family history of miscarriage? MiscarriageA miscarriage is the spontaneous loss of a fetus before the 20th week of pregnancy. Pregnancy losses after the 20th week are called stillbirths. Mi...ImageRead Article Now Book Mark Article Is there any family history of stillbirth? Stillbirth A stillbirth is when a baby dies in the womb during the last 20 weeks of pregnancy. A miscarriage is a fetal loss in the first half of pregnancy...Read Article Now Book Mark Article Is there any family history of early death? Have any family members had infants who died in the first few weeks of life or who had ambiguous genitalia? Is there any family history of any of the disorders that cause ambiguous genitalia? What medicines did the mother take before or during pregnancy (especially steroids)? What other symptoms are present? 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.Endoscopy, abdominal x-ray, abdominal or pelvic ultrasound, and similar tests may be needed to determine the presence or absence of the internal genitals (such as undescended testes).EndoscopyEndoscopy is a way of looking inside the body using a flexible tube that has a small camera and light on the end of it. This instrument is called an...ImageRead Article Now Book Mark Article Abdominal x-rayAn abdominal x-ray is an imaging test to look at organs and structures in the abdomen. Organs include the spleen, stomach, and intestines. When the ...ImageRead Article Now Book Mark Article Laboratory tests may help determine how well the reproductive organs are functioning. This can include tests for adrenal and gonadal steroids.In some cases, laparoscopy, exploratory laparotomy, or biopsy of the gonads may be needed to confirm disorders that can cause ambiguous genitalia.LaparoscopyDiagnostic laparoscopy is a procedure that allows a doctor to look directly at the contents of the abdomen or pelvis.ImageRead Article Now Book Mark Article Exploratory laparotomy Abdominal exploration is surgery to look at the organs and structures in your belly area (abdomen). This includes your:AppendixBladderGallbladderIn...ImageRead Article Now Book Mark Article BiopsyA biopsy is the removal of a small piece of tissue for laboratory examination.Read Article Now Book Mark Article Depending on the cause, surgery, hormone replacement, or other 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.Open ReferencesReferencesRey RA, Josso N. Diagnosis and treatment of disorders of sexual development. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric. 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 119.White PC. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 594.White PC. Sexual development and identity. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 220.Yu RN, Diamond DA. Disorders of sexual development: etiology, evaluation, and medical management. In: Partin AW, Dmochowski RR, Kavoussi LR, Peters CA, eds. Campbell-Walsh-Wein Urology. 12th ed. Philadelphia, PA: Elsevier; 2021:chap 48.AllVideoImagesTogDevelopmental disorders of the vagina and vulva - illustration As a fetus develops, the formation of the internal and/or external sexual organs may be abnormal. This abnormal development can give rise to sexually ambiguous anatomical structures or normal-appearing anatomy that does not function correctly.Developmental disorders of the vagina and vulvaillustrationDevelopmental disorders of the vagina and vulva - illustration As a fetus develops, the formation of the internal and/or external sexual organs may be abnormal. This abnormal development can give rise to sexually ambiguous anatomical structures or normal-appearing anatomy that does not function correctly.Developmental disorders of the vagina and vulvaillustrationRelated Information Genetics(Special Topic)Chromosome(Special Topic)Penis(Special Topic)Scrotum(Special Topic)Testes(Special Topic) Review Date: 5/24/2021 Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.