locah can, over time, cause pcos in women. i have both, so my hormones are all over the place! right now i'm taking dexamethasone to bring down my dheas, and avandia to bring down my testosterone.
http://caresfoundation.org/symptoms.html
What is Nonclassical Congenital Adrenal Hyperplasia?
Nonclassical CAH (NCAH) [also called Late Onset CAH (locah)] is much more common than Classical CAH. A study of New York residents found it affected 1 in 100 people, appearing to be particularly common among those of Jewish, Hispanic and Italian ethnicity. But, perhaps because it is less severe and harder to recognize than the classical form of the disease, NCAH has not received the attention it deserves as a widespread condition that affects health and quality of life.
NCAH is a variation of CAH that:can begin to cause noticeable changes at any time from early childhood to early adulthood;
is not immediately life-threatening;
has a range of symptoms which overlap with other disorders and therefore may not be easily diagnosed;
is less likely to be diagnosed promptly.
Girls born with NCAH have normal genitals. Boys also appear normal. Because the symptoms begin later in life, NCAH is sometimes called late-onset CAH, adult-onset CAH, or the attenuated form of CAH. Nonclassical CAH does not progress to classical CAH in affected individuals.
NCAH may be picked up in infants through newborn screening tests. They do not necessarily need treatment. Parents can be aware of the symptoms of the disorder and seek treatment if it becomes necessary. Only those children/adults who are symptomatic should be treated. Some with NCAH never experience bothersome symptoms. Those with NCAH who are asymptomatic do not require treatment.
What Are the Symptoms of NCAH?
NCAH symptoms vary from person to person. Also, one person’s symptoms may come and go over time. These symptoms can begin at any time in life and may start in early childhood. These symptoms are often mistaken for premature puberty--girls with signs of puberty before age 8 and boys before age 9. It is progressive, meaning that the untreated symptoms may become worse over time.
Both males and females with NCAH may show the following:
Premature development of body hair (pubic and underarm);
Body odor (young children’s perspiration normally has no odor);
Early, rapid growth spurt, but ultimately short stature as adult (abnormal bone aging, see Figure 5);
Oily hair and skin;
Severe acne;
Anxiety, depression, mood swings, migraines;
Infertility
In females, symptoms most frequently become apparent shortly after the onset of menses and may include the following (as well as those symptoms mentioned above):
Early age of first menstrual period;
Menstrual irregularities;
Baldness, especially at the temples (male pattern baldness);
Excessive hair growth; facial hair on chin and upper lip may be thick, coarse, and dark;
Previous diagnosis or symptoms of Polycystic Ovarian Syndrome (PCOS).
In males, NCAH can also produce the following:
Early beard growth;
Enlarged penis with comparatively small testes;
Low sperm count;
Short stature.
If these symptoms are present, it’s important, especially in children, to consult a board-certified pediatric endocrinologist or adult endocrinologist.
But My Pediatrician Says These Symptoms Are Not a Problem
Often, parents of NCAH children exhibiting signs of early puberty find that their pediatricians do not take their concerns seriously. With so much press given to early puberty lately, many pediatricians take a “wait and see” attitude. Here are some comments from parents of children with NCAH:
“I was concerned when I noticed my child had body odor at age 5. The doctor didn’t take my worries seriously. This information wasn’t even put into her medical chart.”
“I got the impression the pediatrician was not really listening to my concerns.”
“They shut you down, and say ‘Don’t worry’.”
“When I asked my pediatrician about the pubic hair on my six year old daughter, she said ‘Why are you worrying about a few pubic hairs?’ ”
“Although my pediatrician did run tests at my request that indicated a hormonal imbalance, her first reaction was to underplay my daughter’s symptoms in favor of ‘watchful waiting.’”
If your child has any of the NCAH symptoms, don’t accept a doctor’s downplaying of their importance. Consider evaluation by a pediatric endocrinologist familiar with NCAH. You may also refer your physician to our web site.
Why Hasn’t My Physician Suggested the Possibility of NCAH?
Even when people question their physicians about symptoms, failure to seriously explore the issue is all too common. There are many reasons for this:
NCAH is not well understood by general physicians. Symptoms of NCAH are highly variable, so there is no “typical” case that a doctor can easily recognize.
In children: A widely publicized study suggested recently that the average age of puberty is dropping. Though this study has been disputed, your pediatrician may believe that starting puberty as young as 6 or 7 can be considered “the new norm.” He or she may view it as “merely” a social issue, instead of a medically important sign.
Unlike many inherited diseases, NCAH is not obvious at birth. Physicians may not think in terms of an inherited condition when they see NCAH symptoms appear in an otherwise healthy child.
Physicians have a greater workload nowadays.
What Happens if NCAH is Not Properly Diagnosed and Treated?
Missing the diagnosis of NCAH can have serious consequences. Some common consequences are:
Inefficient treatment: Treatment may be directed at the symptoms of NCAH rather than the disease itself. For example, a child with acne may be treated for just this symptom, while other damaging effects of NCAH continue unchecked. Also, treating the disease itself is more effective that treating the symptoms alone.
Early Puberty: Going through puberty at a very young age can be upsetting-even traumatic.
Hirsutism: Excess hair growth, particularly facial hair in women. Once established it is difficult to treat. Thus, early treatment, prior to puberty, can save a young woman from developing this unpleasant symptom. More on Hirsutism....
Shortened Stature: Bone growth comes to a halt too early in life. As adults, untreated individuals may be shorter in height than they would have been if properly treated. The longer the condition goes untreated, the more potential height is lost. Later treatment can’t bring it back.
Reduced fertility: Females are prone to menstrual difficulties and symptoms of Polycystic Ovarian Syndrome (PCOS). Men may have lowered sperm counts. Fertility often can be restored with a few months of treatment with glucocorticoids rather than the expensive, often physically and emotionally traumatic standard fertility treatments.
Inability to safeguard the health of the future children of affected individuals: Parents who have had one child with CAH or NCAH may have another affected child; also, that child should know that he or she might pass on the gene to a new generation. In addition, those with nonclassical CAH may carry a classical CAH gene mutation. Those with NCAH should undergo preconception genetic counseling to assess the risk of giving birth to a classical CAH child. Siblings and relatives of affected children may benefit from testing if they have minimal symptoms but are actually affected, or may wish to undergo preconception genetic counseling. Multi-Center Study on Non-Classical CAH in Women of Reproductive Age
What Tests Are Used to Diagnose NCAH?
All testing for NCAH should be conducted by a board-certified adult endocrinologist or pediatric endocrinologist.
In many cases, a single blood test, drawn in the morning and looking at adrenal steroid levels, is sufficient to make the diagnosis of CAH. An ACTH stimulation test is often done to confirm the diagnosis. A dose of ACTH, or adrenocorticotropic hormone, is given intravenously. Blood samples are taken before the medication is given and again a half-hour and hour later.
People without CAH respond to ACTH stimulation by releasing cortisol into the bloodstream. In NCAH blood samples taken after the dose of ACTH show large amounts of 17-OHP, the “raw material” from which cortisol is normally made. The results of the ACTH stimulating test are plotted on a “Nomogram”, see Figure 6 below, to determine whether the values indicate a diagnosis of CAH.
Nomogram for comparing 17-OHP levels before and 60 min after a 0.25 mg iv bolus of cosyntropin in subjects with or without 21-hydroxylase deficiency. Note that the values for normals and heterozygotes (carriers) overlap. (From Speiser and White; Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency; Endocrine Reviews 21(3): 245-291; 2000)
DNA testing and certain other hormone tests may also be used to confirm the diagnosis.
ArticleS:
A widespread belief about the onset of puberty in girls is coming under vigorous attack, led by a group of medical specialists who say that it is based on flawed science and that it can have dire medical consequences.
Two professional societies representing endocrinologists have issued a statement saying that despite the conclusion of a widely noted study, it is not yet established that girls typically enter puberty earlier today. The groups urged that girls who appear to be starting sexual development at a young age see a specialist as soon as possible. article
The belief Ñ that girls are now starting puberty as early as age 6 or 7 Ñ began with a single study that critics say has serious problems. The study led some experts to suggest changes in the guidelines used by pediatricians in deciding whether girls whose puberty starts early need to be evaluated by specialists to look for medical problems that might be the cause
http://www.dundee.ac.uk/medther/tay...d%20in%20women?
Congenital Adrenal Hyperplasia (CAH) in Adults
What is CAH?
This condition is caused by an inherited defect in one of the enzymes in the adrenal glands. The adrenal glands manufacture the hormone cortisol and aldosterone from a form of fat called cholesterol. The process of making cortisol or aldosterone from cholesterol requires five steps each controlled by at least one activating protein which is called an enzyme. CAH is caused by a fault in one of these enymes which literally runs slow. The effect is that the patient may not make enough cortisol or aldosterone or both.
How does this affect me?
If the patient doesn’t make enough aldosterone then the body can’t retain salt and this is lost in the urine.This is sometimes known as ‘salt wasting’. This doesn’t occur in every patient but in those where it does occur it can vary from very mild to severe.
Cortisol also known as hydrocortisone, maintains many of the body’s systems in good working order especially the circulation and prevents blood glucose from going too low between meals. Without cortisol you would feel tired, listless, lack appetite and feel sick. You would have a low blood pressure and feel light headed and vague. Your blood glucose would at times run low making you feel hypoglycaemic with weak shakey legs, cold and sweaty, blurred vision, headache and a need for sugar. Cortisol particularly helps in combating stress from injury or illness and without sufficient supply you would be very ill indeed and need hospital admission even for infections considered slight by others without CAH e.g. head cold or mild flu.
The low levels of cortisol reaching the brain makes the head hormone controlling gland called the pituitary release a signal to the adrenal glands called ACTH to speed up the manufacturing of cortisol by switching on all the enzymes along the five steps of production. However the CAH patient has one faulty enzyme so a backlog of partly processed hormone builds up. The adrenal gland has then to channel away this build up or the adrenal would silt up. The adrenal has one other route and this it opens up allowing the partly processed hormones to be manufactured into male hormone called androgen. This androgen builds up in the blood and causes many problems especially in females. If this occurs in babies then the genitalia of females can look like a baby boy, children both boys and girls then enter puberty early and growth is stunted. However if this continues untreated after puberty then the woman becomes more male like, hairy, and infertile.
What types of CAH are there?
Many cases of CAH are found at birth or in children and are treated early. There is another type where the enzyme fault is slight and only becomes apparent at puberty when it has to work harder and its inability to speed up becomes apparent. This is called ‘non classical or cryptogenic’ CAH. Others call this ‘adult onset’ CAH. This pamphlet only describes this type of CAH and also the treatment of adult patients with CAH. For a guide concerning babies and children please see the CAH Support Group website on
www.cah.org.uk
What symptoms does a person have who develops CAH as an adult?
The adult onset form is far less severe than the childhood version and usually never produces salt wasting. Often cortisol production is only slightly sluggish and only causes bother during stress such as illness or injury. Patients however may feel tired and listless at all times. The real trouble arises from the over production of the androgen. In the male this is unlikely to be ever noticed but the women certainly notices a change. She becomes more male like;
Extra hairs develop over the face, neck , breasts and body especially up the front of the abdomen.
The voice may become deeper
Greasy skin and hair with acne.
Period may never develop, be very irregular or stop
Infertility
How is adult onset CAH diagnosed in women?
The doctor will measure androgen in the blood and note that it is far higher than expected for a woman. Then the blood will be tested for the partly processed hormones. In practice the commonest fault in over 95% of patients occurs in an enzyme called 21 hydroxylase . The partly processed backlog hormone in this variety of CAH is called 17 hydroxyprogesterone and this is the hormone the doctor will measure. If it is high then the patient has CAH. Another hormone sometimes measured is ACTH which is overproduced by the head hormone gland the pituitary. To check for salt wasting the hormone renin may also be measured. Sometimes the condition requires another test called a synacthen test. In this ACTH is injected and the doctor measures the rise in 17 hydroxyprogesterone. This is often required in borderline cases where the faulty enzyme is only slightly affected and needs to be overworked to show that it is defective.
How is it treated?
If you remember the fault in CAH is an under production of cortisol. This is easily replaced by giving the medicine hydrocortisone. This is usually given two or three times per day and is tailored to each patient’s needs as shown by their blood chemistry. Sometimes other cortisol replacement medicines are used such as prednisolone or dexamethasone for these have a longer action and can be given once per day. However patients react differently to these medicines especially dexamethasone and put on weight and such patients may be better on hydrocortisone even if it has to be taken 2 or 3 times per day. Another point to make is that often the specialist after measuring your chemistry may recommend that you take more hydrocortisone in the evening than in the morning. This is often done to suppress androgen hormone production during the night which is the peak time for production in everyone. In a few patients salt wastage may require replacement with the hormone fludrocortisone but this is not usual for the adult onset type of CAH.
What should I do if I develop an illness such as flu?
During times of stress such as illness or injury then you should double your steroid intake until you are better. Any vomiting or diarrhoea then contact your doctor immediately and be seen that day. Otherwise come into A+E. Always carry a card or Medialert badge, pendant or bracelet in case of emergency for it is essential doctors know you are on steroid treatment and why.
How does the specialist monitor your CAH?
This is done in adults by measuring the hormone 17 hydroxy progesterone known as 17OHP. Often the androgens may also be measured.
Is there a genetic test?
CAH is an inherited disorder and is passed onto you by both of your parents in the genes. Each cell has a set of instructions called genes which are stored in the cell as threadlike structures called chromosomes. Everyone has 23 pairs of chromosomes, one set from their father, the other from their mother. Each chromosome has thousands of genes each controlling some process the body requires.In the commonest form of CAH, the enzyme 21 hydroxylase is faulty. This is due to a fault in one gene only in chromosome number 6. The patient has a faulty gene on each of their two chromosome number 6 inherited from their mother and father. The reason why your mother or father do not seem to have your condition is that each has only one faulty gene whereas their second gene is healthy and compensates for the others fault. However you have have inherited the faulty gene from both your mother and father and that is why you have the condition. Your brother or sister might also have inherited the condition but may have not. They then may have inherited two healthy genes or be carriers having inherited one faulty gene from one or other parent and one healthy gene from the other. Your parents were carriers and had a 1 in 4 chance of passing the clinical condition to a child. In other words out of 4 children born to your parents the chance is that one will have clinical CAH, two will be carriers and one will not. Genetic studies on you and your family will identify the gene and will allow the doctor to say who in your family are carriers.
How common is CAH?
In Europe CAH occurs in 1 in 5000 people. The carrier state is found far more frequently in 1 in 37 people. So the chances of both parents being carriers is not high unless they are closely related.
Will I pass the condition onto my family?
To answer this question the gene will be measured in your partner. If your partner is a carrier then there is a 1 in 4 chance of one child being affected with clinical CAH and two being carriers. If your partner does has healthy genes then none of your children will develop the condition but some may be carriers. Genetic studies on your children will detect the carriers.
Can I get pregnant if I have CAH?
Yes, once you are under treatment.
Can CAH be detected in the unborn baby and can this be treated before birth?
Yes. During the pregnancy the patient with CAH continues taking the hydrocortisone as before. This hormone passes across to the unborn baby and automatically corrects any fault if baby has inherited CAH. During the pregnancy the dose of hydrocortisone will be monitored by measuring another hormone called androstenedione as 17 hydroxy progesterone is always elevated in pregnant women and cannot be used to monitor CAH.
However if you are the parent of a child with CAH you no doubt want to be sure that if the unborn baby has inherited CAH then it is treated before birth. This is done by testing the unborn baby for CAH by taking a sample of tissue from the neck of the womb (chorionic villous sampling) or amniotic fluid early on in the pregnancy. This is then genetically tested to see if the unborn baby has CAH and also to determine its sex. Of course the doctors do not know the answer till nearly 14 weeks of the pregnancy so it is likely that they will ask you to take dexamethasone until the answer is known. If the unborn baby does not have CAH or is a carrier but is unaffected then the dexamethasone will be stopped and all will be well. However if the unborn baby has CAH and is a girl then the dexamethasone will be continued till baby is born. This is essential in unborn girls to prevent a build up of androgen turning their genitalia into that resembling boys. If the unborn baby is a boy then the specialist may advise stopping the mother’s dexamethasone as excessive male production in the unborn boy causes no problem. Of course affected babies will need treatment after birth.
Can I expect to live as long as others?
CAH does not reduce your life expectancy and you can expect to live a normal life
Does hydrocortisone remove my excess hairs?
In most patients it will but some require to take the medicine Dianette either alone or with cyproterone acetate for up to a year to remove unwanted and persistent hairs. Some hairs on the legs and arms are natural and cannot be removed by this method. These require removal by dilapatory creams or shaving as most women require to do who do not have CAH.
Is surgical correction ever required?
This pamphlet maily concerns treatment in adults most having developed the condition in adulthood.Some may have developed CAH in puberty or earlier and have been diagnosed later. Such patients may have genitalia requiring some plastic surgery mainly to shorten the clitoris or even open the vagina. This will be done by expert surgeons as quickly as possible.
I am a man so what about me?
If you are diagnosed as having CAH this is usually when you were a child. Normally your hydrocortisone will be continued as will the fludrocortisone if you require this. You will not require surgical correction. In mild conditions of CAH developed in adulthood then no treatment may be required. Your specialist will advise. Nevertheless genetic testing of yourself, your spouse/partner and children is essential.
Where can I get more information?
Why not contact the CAH Support Group at
CLIMB, The Quadrangle, Crewe Hall, Weston Road, Crewe, CW1 6UR
Telephone 01270 250221
www.cah.org.uk
or the Adrenal Hyperplasia Network at
www.ahn.org.uk
http://www.endo-society.org/pubaffai/factshee/cah.htm