Home | RSS

Links
Parenting Guide
WebMD Health Information
Health and Biology

Ambiguous Genitalia Wiki, causes and pictures

Aug 07, 2011 > Various
Are you looking for ambiguous genitalia wiki and pictures? The first concept that an examiner might want to know if they were asking the question - or if you were approached with the clinical thing - is that there are many different levels of sex, and not just chromosomes. We all tend to focus on chromosomes but thatís just one. Gonads, ovaries or testes? What are the internal ducts? What do the external genitals look like? What is the hormonal sex; androgen or estrogen circulating? And what is the psychosocial sex? All these things must be consistent in order to have a successful outcome of sex assignment.

Ambiguous Genitalia Wiki and pictures

Starting with chromosomal sex, since thatís the thing we often think about first when we see a baby who has ambiguous genitalia. Let me tell you, the chromosomes wonít tell you everything. They arenít always perfect predictors of what the sex of the child is. I think one obvious example is that a karyotype only sees big changes. You might not see the missing piece that will turn an XY person into a perfectly normal looking female. You may not see extra pieces that will turn an XX person into a very normal looking male. What about the concept that if some of the cells are one type - say 45 X - and the other types are 46 XY, what actually happens. And thatís an important concept of mosaicism. Iím not sure they will ask you this on the Boards but in real life you have to remember that you can get mixes of chromosomes, and perhaps that explains some of the cases that we see that are very, very much in between. Now we do a lot of focusing on the gonadal sex. That is, is it an ovary or a testes? But guess what? Itís not always clear. While it normally follows the rules that if you have a Y chromosome you get a testes. Sometimes you do get a little of both. It may have ovarian and testicular tissue in the same gonad. You can imagine how that confuses issues. Sometimes the gonad is missing. It either never developed in the first place or else it was there and then it disappeared. Sometimes it just doesnít make the hormones it is expected to, even though itís there.

Ambiguous Genitalia Wiki, causes and pictures Now the third thing - and I think this is very important for diagnostic purposes - are the internal genital ducts, the tubing as you would have it. I donít know, maybe you have your mnemonic. I just remember that M stands for mother and W stands for wolf-whistle, to remember which ones are the "female" and which ones are the "male" structures. But really the thing that I think is important is that there are two mullerian structures that are diagnostically very very important, and I put them in orange. And one of them is the uterus. If you see a uterus on the ultrasound, there was something there that a male normally makes that wasnít made. If you see the upper two-thirds of the vagina is there, you know that that male factor wasnít active, that keeps that from being made. So itís very important because these are structures you can see on ultrasound, in the case of the uterus, or on your physical exam, if you do a pelvic exam.

Ambiguous Genitalia Causes

Now the thing that we see in the delivery room, the thing that I think really leads to a lot of the distress, is the external genitalia, the ambiguity of the external genitalia. The rule is - and this is what an examiner might try to ask a question, to see if you understand - is that for every female genital structure there is a male equivalent, and vice-versa. So the clitoris is the analog of the penis. On the other hand, sometimes you have something and you donít know whether itís a large clitoris or a small penis. There are also other analogs as well. The labia minora in a male would form a tube around the urethra and recall the corpus spongiosum. The labia majora would fuse in a male to become a scrotum. And the lower third of the vagina is a prostatic utricle. Thatís not as useful, but these other things are very very important to know. And in between you can get things like hypospadias, or you can get posterior fusion and you donít know if itís fused labia majora or actually a partially fused scrotum. Just the idea that all these things can be in between - and Iíll show you some clinical examples in just a little bit. Now there is obviously the idea of do you have estrogens or androgens in your system? And does your body respond? Iíll show you an example of when the body doesnít respond to androgens, you get a female outcome. What they call the androgen insensitivity syndrome.

There is also the psychosocial aspect and I wonít get into that now, but from a management point of view, this is very important; that whatever decision you finally make on a sex assignment case, that the family, the physicians, everybody is firmly on that same wave length.

So really the key concept, number two -which is just a corollary of concept number one - is that many of these different levels may be discordant. They donít always follow together. For example, if you have a question that asks, "Here is somebody with a uterus, do they definitely have a 46 XX karyotype?" I think you probably know the answer. Definitely no, they may not. Hereís another classic example. Somebody has well developed breasts, normal female genitalia, 100% female identity, does this automatically guarantee they have a 46 XX karyotype? Again, not necessarily. If they have primary amenorrhea, a blind short vagina, and no axillary or pubic hair, they may very well be 46 XY but they didnít respond to testosterone. In many cases this is the classic example of androgen insensitivity. Where somebody who looks like this turns out to have a hernia with a testes in place.

An important key concept, pathophysiologically, is that the default pathway for sexual differentiation is female. So that if you donít have any ovaries - if you have a fetus who has no gonads whatsoever - the default pathway will be female duct and genital development. On the other hand, the testes has to be there to suppress those mullerian ducts, those female ducts like the uterus and upper part of the vagina, and two, to stimulate the development of male genitals. So to make a male you have to have the right chromosomal signal, usually on the Y chromosome. You have to have two signals from the testes; one, the mullerian inhibiting substance to inhibit the female ducts, and two, testosterone to stimulate the male genitalia formation. You need to be able to convert testosterone one final step to dihydrotestosterone that finishes off the genital development, and you do also need pituitary signals to insure that the penis is full length, for example.

There is an important concept medically, that there is a critical period for external genitalia development and this is week 8-12. After the second month. Before that the male and female genitalia in the fetus look exactly alike. Between 8 and 12 weeks any androgen - whether itís something the mother took, whether itís a tumor the mother has, or whether itís an adrenal problem that gives the mother too much testosterone - will lead to full virilization, where if you had somebody who was a 46 XX female and was exposed to a lot of androgen in this critical period, they would end up looking quite male. After 12 weeks, the fetus is no longer quite as sensitive and while youíll get some virilization, you wonít get the extreme ambiguity you would at the earlier period.

You need to know what are some of the signs of virilization. Clitoromegaly is one. But I will tell you that there are standards, but itís very hard to measure a clitoris and itís sort of like the Supreme Court definition of pornography, "you know when you see it." Now I want to warn you that the clitoris of a premature infant can look very prominent because there isnít a lot of labial fat on the sides, so it looks like the clitoris is sticking out there. But I think most of us would realize that this is not clitoromegaly. But once in a while we get some calls because someone thinks the clitoris looks very prominent. Another thing that you have to be careful of; this is a normal female infant. Her labia minora are very stimulated, perhaps because of her motherís hormones, and this will go down as the infant grows up. This is not clitoromegaly. These are just very stimulated, estrogen-stimulated labia minora.

Another thing that is important is that if you see a migration of the urethral opening to the shaft of what would be the clitoris - and the urethral opening in a male should be at the tip of the corona, and in a female is down at the base of the phallic structure, but it could be anywhere in between depending on how much androgen the person has. Another very important feature for virilization is any kind of posterior fusion at the labia. One thing you can look at is see where the fusion is, or see where the posterior part of the vaginal opening, and see if itís closer to the base of the clitoris than it is to the anus. If it is, thatís a sign of significant posterior fusion and maybe a sign of virilization in a female.

You have to know the converse too. What does an under-virilized male look like? Obviously a small penis is one thing, and you can remember the one inch rule as a rule of thumb for a term newborn. A penis that is less than one inch in length is more than 2 Ĺ standard deviations below the mean. That should be easy to remember, hopefully. Obviously hypospadias can be a sign of under-virilization, although it may happen sporadically with no hormone problems. And another thing thatís come up - actually very recently we had a case - where a child may have a bifid scrotum. Iíll show you a picture of each of these in a second. I donít think any of us need to be told that this is a micropenis. You do need to push the suprapubic fat pad back to make sure that you are getting the full length of the penis, and you do need to measure the stretched penile length. Not just look at it and try to estimate. The hypospadias, or mild hypospadias, may be a sign of under-virilization. Certainly if the urethra is down here near the base of the penis, thatís a very distinct sign of under-virilization and should increase your level of suspicion for an androgen disorder.

Here is an example Ö this is a bifid scrotum where you actually have some fusion in the midline right here, and that can be a sign of under-virilization as well.

Now any exposure to excess androgens during that critical 8-12 week period will lead to virilization and the most common thing that you will run into, and have a very good chance of running into - particularly if you deal with a Hispanic population or you live in New York City - and that would be virilizing CAH, or congenital adrenal hyperplasia. And you should know this entity relatively well. Iíll cover that in a second. Obviously if mother had an androgen-excreting tumor and she herself was virilized, or if she were taking any androgenic meds, that would be a smoking gun as well. But much less common in our practice.

That's some stuff about Ambiguous Genitalia Wiki and pictures


Other Articles

Ambiguous Genitalia Wiki, causes and pictures #0Candida albicans Causes, Those at Risk, Symptoms and Treatment
Candida albicans is a fungus that is normally present on the skin and on membranes of the mouth, throat, intestines, and vagina. It becomes an infecting agent only when there is some change in the body environment that allows it to grow out of control.
Ambiguous Genitalia Wiki, causes and pictures #1Diverticulitis Diet Foods to Avoid
A low residue diet is one that consists of a daily intake of no more than 10 grams of fiber. While on this diet for an extended period of time it is recommended that a multi-vitamin or mineral supplement be taken daily. This ensures that minerals and vitamins lost while on the low residue diet are made by taking supplements. Until recently, many doctors suggested avoiding foods with small seeds because it was believed that particles could lodge in the diverticula and cause inflammation. However, this is now a controversial point and no evidence supports this recommendation. So the seeds in tomatoes, zucchini, cucumbers, strawberries and raspberries, as well as poppy seeds, which are part of your diverticulitis diet, are generally considered harmless.
Ambiguous Genitalia Wiki, causes and pictures #2Leprosy Symptoms, Causes and Treatment
More than 10 million people are victims of leprosy, an infectious disorder also known as Hansenís disease. Although leprosy is more common in tropical regions, where up to 10 percent of some population groups may be affected, the disease also occurs in several northern countries, including the United States, where the disease is found in coastal states from California through Texas and Louisiana, and from Florida to New York. Ancient medical writings indicate that leprosy was known in China and India about 3,000 years ago but did not spread to the eastern Mediterranean until A.D. 500 or 600.
Ambiguous Genitalia Wiki, causes and pictures #3Echocardiographic diagnosis in carcinoid heart disease
W.F. Wonnink-de Jonge, C.T.A.M. Knibbeler-van Rossum, C. van der Heul, W.H. Pasteuning 181 In this case report the typical echocardiographic features of carcinoid heart disease are presented. Newer treatments such as the use of a somatostatin analogue, interferon and hepatic de-arterialisation have improved the prognosis in patients with carcinoid syndrome. Nevertheless this syndrome portends a poor prognosis in patients with cardiac involvement. Cardiac lesions are mainly located in the right side of the heart.
Ambiguous Genitalia Wiki, causes and pictures #4Venereal Warts Symptoms and Treatment
Venereal warts (also known as genital warts or condylomas) are caused by a small group of viruses known as human papilloma viruses (HPV). A person becomes infected when an HPV penetrates the skin and mucous membranes of the genitals or anus through sexual contact.
Ambiguous Genitalia Wiki, causes and pictures #5Dementia stages symptoms
Are you looking for dementia stages symptoms? Dementia is a serious loss of cognitive ability in a previously unimpaired person, beyond what might be expected from normal aging. It may be static, the result of a unique global brain injury, or progressive, resulting in long-term decline due to damage or disease in the body. Although dementia is far more common in the geriatric population, it can occur before the age of 65, in which case it is termed "early onset dementia". Symptoms of dementia can be classified as either reversible or irreversible, depending upon the etiology of the disease. Less than 10% of cases of dementia are due to causes that may presently be reversed with treatment. Causes include many different specific disease processes, in the same way that symptoms of organ dysfunction such as shortness of breath, jaundice, or pain are attributable to many etiologies.
Ambiguous Genitalia Wiki, causes and pictures #6What is holoprosencephaly definition
Are you looking for What is holoprosencephaly definition? Holoprosencephaly (HPE) is a birth defect in which the brain fails to form properly. The most severe form is Alobar Holoprosencephaly, in which the brain does not divide into two hemispheres. These children often have significant facial malformations as well. In Semilobar Holoprosencephaly, the brain is divided in the back but not in the front; in Lobar Holoprosencephaly, the hemispheres are divided but are fused in some areas; and in cases with Middle Interhemispheric Variant, the brain is not well divided in the middle. Mental retardation, epilepsy, microcephaly, hydrocephaly, and malformations in other organs are all associated with holoprosencephaly.
Ambiguous Genitalia Wiki, causes and pictures #7Esselstyn diet rules and recipes
Are you looking for Esselstyn diet rules and recipes? You should know about the success Dr. Esselstyn has had with diet and, if necessary, minimal use of cholesterol-lowering drugs. His diet rules are simpleóand strict: All vegetables, fruit, whole grains, beans and lentils are allowed; but no meat, chicken, fish, eggs, refined grains, dairy products (even skim milk), oil, nuts or avocados. In short, eliminate all fats except those found in plant-based foods; no animal foods or concentrated fats (oil, nuts). His aim is to avoid any food known to cause or promote vascular disease. If you are free of heart disease, walnuts in moderation are permitted. Esselstyn acknowledges that the omega-3 fatty acids found in fish are essential to artery health and other bodily functions, but prefers to use plant sources, such as flaxseed.
Ambiguous Genitalia Wiki, causes and pictures #8Symptoms of Gallbladder Dysfunction
Are you looking for symptoms of gallbladder dysfunction? What is important to say when it comes to gallbladder symptoms is that people can be quite unaware that their digestion problems actually come from their gallbladder. The reason for this is that gallbladder symptoms are closely related to other signs of digestion disorders. So keep in mind that all the symptoms you find here may be related not only to your gallbladder but to other organs as well. Sometimes only one of these symptoms is enough to show you that something is wrong with your gallbladder. So if you experience one of the symptoms listed below (or more of them), visit your doctor. In vertebrates the gallbladder (cholecyst, gall bladder, Biliary Vesicle) is a small organ that aids mainly in fat digestion and concentrates bile produced by the liver. In humans the loss of the gallbladder is usually easily tolerated.
Asthma Treatment&h=150&w=200&q=100Causes of Asthma and Diet for Treatment
Asthma is a disease that affects the bronchial tubes leading to our lungs, resulting in periods of wheezing and shortness of breath. Not only has the number of asthma sufferers escalated worldwide, but recent research has indicated that more than 10% of South Africans are affected and that it is definitely the most common of the chronic childhood illnesses. Pollution from traffic fumes is without doubt a contributing factor, as during school holidays incidences of attacks are reduced as there is less traffic. Other atmospheric pollutants such as pollen, cigarette smoke and car exhaust fumes can all be triggers. The incidence of occupational asthma is also high in this country, caused by contact with airborne particles e.g. flour, soap powder and paint. Even stressful situations and chronic exhaustion can trigger an attack as can eating foods to which you have a sensitivity (such as sulphur dioxide, used as a preservative in many dried fruit). You can also suffer exercise-induced asthma. People who take paracetamol every day are twice as likely to suffer asthma, and if you take it twice weekly you are 80% more likely to be affected.
Ambiguous Genitalia Wiki, causes and pictures #10Drug Classification
Drugs are commonly classified according to the physiological effect they have. Categories include stimulants, depressants, hallucinogens, narcotics, and inhalants. Two other types are also important. First, designer drugs are manufactured to mimic the effects if drugs found in the previously mentioned categories. Designer drugs usually are not illegal because their chemical formula has been altered from the original drug. The other drug, marijuana, is difficult to classify but is usually included as a hallucinogen. Depending on the dose, marijuana can mimic a variety of substances found in other categories.
Ambiguous Genitalia Wiki, causes and pictures #11Molar Pregnancy
Molar pregnancies, invasive molar pregnancies, and malignant molar pregnancies are growths that result from abnormal pregnancies referred to as trophoblastic disease. Doctors often use the term mole to describe some of these problems; this has nothing whatever to do with a mole on the surface of the skin. The term trophoblastic disease is derived from the name of the trophoblast cell, the cell that makes up the placenta.
Ambiguous Genitalia Wiki, causes and pictures #12Iron deficiency symptoms eyes
Are you looking for iron deficiency symptoms eyes? Iron deficiency (sideropenia or hypoferremia) is one of the most common of the nutritional deficiencies. Iron is present in all cells in the human body, and has several vital functions. Examples include as a carrier of oxygen to the tissues from the lungs in the form of hemoglobin, as a transport medium for electrons within the cells in the form of cytochromes, and as an integral part of enzyme reactions in various tissues. Too little iron can interfere with these vital functions and lead to morbidity and death.

Copyright (c) 2011 by DRZ
Privacy Policy | Contact Us