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Androgen insensitivity syndrome (AIS) is when a person who is genetically male (has one X and one Y chromosome) is resistant to male hormones called androgens. As a result, the person has some or all of the physical characteristics of a woman, despite having the genetic makeup of a man.
Alternative NamesTesticular feminization
Causes, incidence, and risk factorsAndrogen insensitivity syndrome (AIS) is caused by various genetic defects on the X chromosome that make the body unable to respond to the hormones responsible for the male appearance.
The syndrome is divided into two main categories:
- Complete AIS
- Incomplete AIS
Complete androgen insensitivity prevents the development of the penis and other male body parts. The child born appears to be a girl. The complete form of the syndrome occurs in as many as 1 in 20,000 live births.
The degree of sexual ambiguity varies widely in persons with incomplete AIS. Incomplete AIS can include other disorders such as Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome), which is associated with breast development in men, failure of one or both testes fail to descend into the scrotum after birth, and hypospadias, a condition where the opening of the urethra is on the underside, rather than at the tip, of the penis.
Also included in the broad category of incomplete AIS is infertile male syndrome, which is sometimes due to an androgen receptor disorder.
SymptomsA person with complete AIS appears to be female but has no uterus, and has very little armpit and pubic hair. At puberty, female secondary sex characteristics (such as breasts) develop, but menstruation and fertility do not.
Persons with incomplete AIS may have both male and female physical characteristics. Many have partial closing of the outer vaginal lips, an enlarged clitoris, and a short vagina.
There may be:
- A vagina but no cervix or uterus
- Inguinal herniawith a testis that can be felt during a physical exam
- Normal female breast development
- Testes in the abdomen or other unusual places in the body
Complete AIS is rarely discovered during childhood, unless a mass is felt in the abdomen or groin that turns out to be a testicle when it is explored surgically. Most people with this condition are not diagnosed until they fail to menstruate or have difficulties becoming pregnant.
Incomplete AIS, however, is often discovered during childhood because the person may have both male and female physical characteristics.
Tests used to diagnose this condition may include:
- Blood work to check levels of testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH)
- Genetic testing (karyotyping)
- Pelvic ultrasound
Other blood tests may be done to help tell the difference between AIS and androgen deficiency.
TreatmentUnusually located testicular tissue may not be removed until a child completes puberty and growth is complete. At this time, the testis may be removed because they can develop cancer like any undescended testicle.
Estrogen replacement is prescribed after puberty.
Treatment and gender assignment can be a very complex issue, and must be individualized with great care.
Expectations (prognosis)The outlook for complete AIS is good if at-risk testicular tissue is removed at the proper time. The outlook for incomplete AIS depends on the presence and severity of ambiguous genitalia.
ComplicationsComplications include testicular cancer, infertility, and complex psychosocial issues.
Calling your health care providerCall your health care provider if you or your child have signs or symptoms of the syndrome.
ReferencesWysolmerski JJ. Insogna KL. The parathyroid glands, hypercalcemia, and hypocalcemia. In: Kronenberg HM, Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. St. Louis, Mo: WB Saunders; 2008:chap 266.
Bringhurst FR, Demay MB, Kronenberg HM. Disorders of mineral metabolism. In: Kronenberg HM, Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. St. Louis, Mo: WB Saunders; 2008:chap 27.
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Do people with Androgen insensitivity syndrome have ovaries?
No. They have gonads.
What are three sex-linked diseases?
Three examples of a sex-linked disease are; Hemophilia, Wiskott-Aldrich syndrome, and androgen insensitivity syndrome. HIV, gonorrhea, and syphilis are examples of sexually transmitted diseases, which is something totally different.
Can animals have androgen insensitivity syndrome?
Yes, it has been observed in many species like horses, dogs and cats. Those animals are born with apparent normal female genitalia, but fail to come into season as they dont have ovaries but testicles inside. It is very rare, and like in humans its an x linked disorder, so it is passed through the maternal line. However it is not called androgen insensitivity syndrom but testicular feminization or male pseudo-hermaphroditism.
What is an abnormal condition of excess androgen secretion observed primarily in woman?
Excess androgen secretion may be related to polycystic ovarian syndrome, which affects one in twenty women. Another cause may be congenital adrenal hyperplasia.
Is there some kind of disease that inhibits puberty?
There are many things that can inhibit or delay pubertal development: * Constitutional variance, normal delay caused by nothing other than genetics and various other factors. These kids are referred to as "late bloomers" and will eventually develope normally. * System diseases such as Inflammatory bowel disease, chronic renal failure, cystic fibrosis. * Endocrine disorders such as Cushing's disease, androgen insensitivity syndrome. * Hypopituitarism * Prader-Willi Syndrome, Kallmann Syndrome * Defects of the Gonads such as Turner's Syndrome, mumps orchitis, or damage from trauma or chemo therapy. * Malnutrition This is by no means an all-inclusive list. If you have any concerns about delayed puberty in a child, they should be seen and evaluated by their pediatrician and/or a pediatric endocrinologist.
Is there a website for or about hermaphodites?
There are several resources for education and support about hermaphroditism. Intersex Society of North America (ISNA)P.O. Box 31791San Francisco, CA 94131Email: info@isna.orgWeb Site: http://www.isna.org/ Androgen Insensitivity SyndromeAIS Support Network US4203 Genessee #103-436San Diego, CA 92117-4950 Turner SyndromeTurner Syndrome Society US811 12 oaks court15500 Wayzata BlvdWayzata, MN 55391 Klinefelters SyndromeSupport and Educational Exchange for Klinefelters Syndrome (SEEKS)1417 25th Ave Dr WBradenton, FL 34205-6449941-750-8044
If a woman had the same type of cancer as Lance Armstrong what would it be called?
Ovarian cancer could be considered the female equivalent to testicular cancer, as they are essentially homologous organs. (that is, they share a "common ancestry" embyologically, and they are both gonads and endocrine glands) Depending on how one interprets it, it is theoretically possible for a woman to have to have testicular cancer. One suffering from intersexuality "disorders" like complete androgen insensitivity syndrome (CAIS) - genetically a male with undescended testes, but with a vagina and outward female appearance - or Klinefelter's syndrome - instead of XY (male) or XX (female) chromosomes, one has XXY - can get testicular cancer.
Can a woman be born without a womb?
Yes. General abnormal development can cause this. One specific condition comes to mind and that is androgen insensitivity syndrome (AIS). In AIS individuals produce, but don't respond to androgens, male hormones like testosterone. The result is a person who is genetically XY will develop into a girl, and then grow into a full woman. For all intents and purposes she is a woman. A simple genetic test can determine if AIS is present.
What is the name of the disease in which the patient loses its sense of touch and cannot feel any pain?
The CATEGORY of disorders which this falls under is HSAN - which stands for Hereditary Sensory Autonomic Neuropathy. There are a variety of disorders which fall under this category and all cause pain insensitivity (not feeling pain). Most of them have multiple names, which can get confusing but all have very different clinical symptoms ... and there is genetic testing available for some but not all. The most well known are Familial Dysautonomia (HSAN type III or Riley Day Syndrome) and CIPA (Congenital Insensitivity to Pain with Anhydrosis) .. however there are also types I, II and V as well as Congenital Autonomic Dysautonomia and Progressive Panneuropathy. There are varying degrees of severity as far as pain insensitivity, as well as varying degrees of autonomic dysfunction with all of these disorders. Hope that is helpful to you.
Is testicular cancer usually only found in one testicle?
It is very unlikely, though it is possible, for a man to only be born with one testicle. More commonly there were two testicles at birth and either one has been removed or that it is in the body but not located in the normal place. In conditions such as cryptorchidism, ectopic testicle, or retractile testicle, the testicle is present in the body, but may not be where you expect it. Testicles are not usually removed in the treatment of infection, but there are other reasons such as cancer, or testicular torsion where the testicle has to be removed for medical reasons. There are also a few conditions where a genetically male person will have rudimentary or non-functional testicles, such as Turner's syndrome or androgen insensitivity syndrome, but these conditions are fairly uncommon and the man would have several other physical attributes that would be abnormal than just the missing testicle. But in any particular man, if you think he only has one testicle is to ask him.
An 18 year old female has never had a menstrual cycle She's suffering from?
She might be suffering from PCOS (polycystic ovarian syndrome as myself is suffering from I have that same symptom. About 10 million women have this is the US and More All over the world. The cause is unknown but PCOS is a hormone unbalance where you haste slightly more androgen and testosterone.
What is syndactyly a symptom of?
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome
