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Congenital Adrenal Hyperplasia
Growing up with a medical condition such as Congenital Adrenal There are five main enzymes in the adrenal gland which convert Hyperplasia (CAH) can be very difficult and for some a lot of cholesterol into the important steroid cortisol. If any of these support is required. The problems of having CAH can be enzymes are missing or defective then not enough cortisol is made considerably reduced if the right type of information is made for the needs of the body. The body, recognising the low levels of available and discussed sensitively. As young adults the issues of cortisol, will try to stimulate the adrenal cortex to make more by sexuality and fertility need early discussion so that adult life can be ‘pushing’ the gland harder by a stimulating hormone called ACTH approached with confidence. These issues can be difficult for some made in the pituitary gland. The constant unsuccessful stimulation causes the cortex to increase in thickness and become‘hyperplastic’.
As with any medical condition there are wide variations as to howeach person is affected by CAH and not all that is in this leaflet will In the most common form of CAH there is a deficiency of an be relevant to everyone. For instance, CAH has different effects on enzyme called 21 hydroxylase. In this form of CAH the production women compared with men. This leaflet describes how some of cortisol and aldosterone is low while testosterone, the male adults see the condition of CAH affecting their lives. Addressing hormone, is produced normally. As the body pushes the adrenal these feelings enables them to find ways to deal with them. Further gland harder trying to correct the low cortisol level more and more support may be found through the family, friends, a support group, testosterone is made. In boys, this excess of testosterone causes a counsellor or a doctor. A specialist with a particular interest in the early sexual development. In females, the excess in testosterone problems associated with CAH is needed at times.
can cause abnormal genital development before birth while inadults it causes irregular periods, unwanted hair growth and acne.
Only by correcting the levels of cortisol with substitute therapy does What is Congenital Adrenal Hyperplasia?
the body recognise normal levels and stop producing excessiveamounts of testosterone and the circulating levels become normal.
The adrenal gland sits above each kidney – one on each side of the The hormone disturbances caused by CAH
body. It is made up of a medulla (middle) which makes adrenaline– this part works perfectly normally in CAH. The outer part of the adrenal gland is the adrenal cortex which makes three main hormones called steroids. These steroids are secreted into the blood stream and are necessary for normal health. It is the adrenal cortex and its hormones which are involved in CAH.
The 3 main steroids involved in CAH are:
Different types of CAH
Cortisol controls how the body copes with stress,
There are many different grades of severity of CAH depending on emotional and physical, such as infection or injury. It also the degree of impairment of production of cortisol and aldosterone.
helps to control blood sugar levels, raising these levels if In the most severe type of CAH aldosterone is completely lacking they become too low particularly in children.
and loss of salt from the body is the most prominent problem – salt
losing CAH accounts for 80% of children with CAH. The loss of
Aldosterone helps to regulate the salt levels in the body.
salt in the urine is uncontrolled and can cause acute dehydration, Aldosterone causes the kidneys to conserve salt if there is very low blood pressure and vomiting. The levels of salt (sodium too little salt in the diet, or if a lot of salt is lost due to and chloride) and sugar (glucose) fall in the blood, and the excessive sweating. Conversely, if a lot of salt is eaten the potassium level rises. This is an ‘Adrenal Crisis’ needing very adrenal cortex reduces the amount of aldosterone secreted, urgent treatment as a potentially life threatening condition.
allowing the excess salt to be passed in the urine.
In the 20% of children with less severe CAH, non salt-losing CAH, Androgens are a group of male hormones, one of which is
the salt balance is normal. In stressful situations, however, some testosterone. For the rest of this booklet the term people with non-salt losing CAH may become salt losers and need testosterone will be used to refer to the androgen group.
extra treatment. Girls born with non salt-losing CAH are usually
Testosterone is produced by the adrenal cortex in both healthy, but often born with an enlarged clitoris and the labia may males and females and they control the formation of pubic be partially fused because of the excess of testosterone. In boys, hair at the onset of puberty. Testosterone is also produced non salt-losing CAH produces no detectable signs at birth and the
by the testis and in small amounts by the ovary.
diagnosis is made when the penis enlarges at a very early agealong with early pubic hair and rapid growth in height the result of cortisol
The pathways of steroid production in the adrenal gland. Cholesterol is taken up by the gland aldosteron
and three main groups of steroid are made - aldosterone, cortisol and androgens. Some of the androgen
enzymes which make the chemical changes are shown in italics - 21 hydroxylase is the most pituitary
common enzyme to be affected in CAH. The steroid, 17 OH progesterone is just above this enzyme and therefore a useful marker of how the adrenal gland is working in CAH.
Cholesterol
adrenalin
ACTH
Pregnenolone
17 OH Pregnenolone
3 ß HSD
Progesterone
17 OH Progesterone
Androstenedione
21 hydroxylase
Deoxycorticosterone
11- Deoxycortisol
Testosterone
11 hydroxylase
Corticosterone
Cortisol
Androgen pathway
Aldosterone
Cortisol pathway
Aldosterone pathway
high levels of testosterone. These changes may not occur until 4 Water retention (sometimes associated with taking Hydrocortisone The mildest form of CAH – late onset CAH - affects women at any
There are four types of cortisol replacement treatment: age. Symptoms of unwanted hair growth or irregular periods can Hydrocortisone, Cortisone acetete (now rarely available in the UK), start at any time after puberty. Often treatment with steroids is not Prednisolone and Dexamethasone. They vary in their dose and necessary in women with late onset CAH. Instead, giving
duration of action. Hydrocortisone is another name for cortisol.
oestrogen as in the oral contraceptive can regulate testosterone Prednisolone is 5 times more potent, and dexamethasone is 40 from the ovary. In fact, the treatment of late onset CAH is usually times more potent than cortisol. Both prednisolone and the same as for the polycystic ovary syndrome because the two dexamethasone are comparatively long acting, where as cortisone conditions are so similar. In men, late onset CAH usually goes acetate and hydrocortisone are shorter acting, and need to be unrecognised although it may cause the sperm count to be low.
taken 2 to 3 times a day. The dose in each dexamethasone tabletis not convenient for fine-tuning of treatment leading to a danger of All of the types of CAH above are deficiencies of the enzyme 21 taking too high a dose. Dexamethasone is established for use in hydroxylase which account for over 90% of people with CAH. The pregnancy for women who are at risk of having a child with CAH.
next most common deficiency is of the enzyme 11-beta Hydrocortisone is also used as an injection at times of adrenal hydroxylase. Treatment of this type of CAH is more complicated crisis or when vomiting prevents the tablets from being taken.
because high blood pressure can be severe if treatmentinadequate. The balance of treatment in 11-beta hydroxylasedeficiency is very difficult and an experienced specialist is Types of steroid tablet and examples of daily doses
essential. Deficiencies of other enzymes are exceedingly rare andbeyond the scope of this pamphlet. A specialist will be able to offer Dose range
more information on the rarer forms of CAH. Adrenogenital Type of steroid
Tablet sizes
syndrome is an older name for CAH which is still used occasionally.
for adults
Treatment of CAH
People with CAH have a normal life expectancy and for mostpeople there is very little interference in every day life if thecondition is well managed. Adults with CAH require life long follow up in specialist hospital clinics in order to maintain the correct levelof medical care and to provide early advice on fertility whenneeded.
The exact dose needed each day for each individual will differ, dueto the variation in body size, different rates of absorption in the It is advisable to have regular medical checks even if everything is bowel. It is important to assess the individual response, taking into well controlled. For women, checks should be made 2 - 3 times per account timing of the day that medication is taken. It is important year. For men, once per year is usually sufficient. The main aim of to be clear how many tablets are missed so that the correct treatment is to maintain normal cortisol levels and control of salt balance of dosage can be achieved. Many people find it difficult to loss, in those who are salt losers. In women, good management of take tablets regularly and this can lead to conflict with doctors.
CAH brings about control of testosterone levels, regular periodsand improved fertility. In men, good management can reduce an At times of stress such as during illness or physical or emotional aggressive behaviour and control excessive libido. Also, the sperm shock, the dose of cortisol replacement treatment should be count can fall if CAH is not well treated and an increase in the dose increased in a controlled way. The exact regime should be agreed of steroid treatment for some months can restore fertility in men.
in prior discussion with you doctor. For example, a double or trebledose is usually advised at times of stress. The body increasescortisol in situations of high mental stress and it may therefore benecessary to give an increased dose even if only for one day for Replacement of cortisol
exams,a driving test, or a sudden bereavement for example. If anillness causes prolonged vomiting which prevents tablets from The object of cortisol treatment in CAH is to replace inadequate being taken, then an injection of hydrocortisone 100 mg should be production of cortisol by the adrenal glands allowing the body to given into the muscle and a doctor should be called. The technique recognise normal levels of cortisol in the body, which reduces the of injection can be learnt by members of the family with instruction need for the adrenal gland to produce excessive amounts of Unless there has been substantial over dosing of fludrocortisone, How do doctors work out how much cortisol to take?
blood pressure should not present a problem taking into accountthe wide variation in general blood pressure levels.
If the cortisol dosage is too low the adrenal gland will try and make
more, but only succeed in making more testosterone. The effect of
these excess androgens is growth of body hair in women and
infertility in both sexes. In severe forms of CAH, too little
cortisol treatment may make the body unable to cope with

stress and infection, so that major surgery or an illness like
- the balance of benefits and side effects ‘flu’ can be life threatening. If the dose of cortisol treatment is
too low, a blood test will establish this by showing high levels of
several adrenal hormones of which the most commonly measured
are:
Hairiness
Increased appetite
Acne
Weight gain
Greasy skin
Muscle weakness
Irregular periods
Thin skin, easy bruising
Reduced fertility
High blood pressure
Tiredness
Osteoporosis
Other side effects of steroid treatment are: Fatigue
Diabetes
Headaches (sometimes associated with taking prednisolone and If cortisol treatment
If cortisol treatment
is too low
is too high
Feeling sick / nausea / tirednessFinding it difficult to cope with stress Replacement of aldosterone
history of CAH carrying a defective gene for 21-hydroxylase isbetween 1:50 and 1:100. The issue of genetic testing should bediscussed with your specialist well before you are planning a All individuals with salt losing CAH need to replace the lack of pregnancy because some tests are useful if performed ahead of aldosterone. Only one form of treatment is used here.
time. The advice on this topic is likely to change with time so Fludrocortisone is given in a dose of 50 – 300 micrograms. Too specialist advice should be sought as part of pre-pregnancy little fludrocortisone can cause low blood pressure and dizziness.
Too much fludrocortisone can cause high blood pressure andheadaches. The correct level of fludrocortisone is determined bymeasuring blood pressure, potassium and the salt sensitive Who should have genetic testing for CAH?
hormone renin in the blood every few years.
A change in the genetic code of the gene that is responsible for Adrenal crisis
making the enzyme 21-hydroxylase is the most common cause ofCAH. There are only a few centres in the United Kingdom and If there is a severe shortage of cortisol then an individual’s life can elsewhere, where this genetic code can be 'deciphered' and the be in danger with an adrenal crisis. This event is very rare is will defect can be precisely defined. Knowledge of this genetic defect never happen to most people with CAH who take treatment in CAH has practically no effect on treatment and so the tests are regularly, make appropriate increases in dose when ill and seek not performed routinely. The only time that a genetic test is useful help early if unexpectedly unwell or vomiting. The symptoms are is to diagnose CAH before birth so that the foetus can receive early faintness, nausea, vomiting and abdominal pain. An adrenal crisis treatment by giving dexamethasone to the mother. In this way, a can be triggered by a stressful illness such as severe flu or gastro- masculinisation of the external genitalia of female foetus with CAH enteritis. An injection of hydrocortisone should be given can hopefully be prevented. In practice, genetic testing and immediately. Admission to hospital may be needed so that fluids antenatal treatment is only useful for families with one child already can be given into a vein – a ‘saline drip’. If in doubt – always give affected by CAH when the chances of having another child with an injection of hydrocortisone and go to the nearest accident and Why not take the adrenal glands out?
Sports
There is an operation to remove the adrenal glands called There is no restriction in any type of exercise for individuals with adrenalectomy. People who have no adrenal glands, a condition CAH. Indeed exercise promotes good health and helps with both called Addison’s disease, require the same medication as those weight control and the prevention of osteoporosis. With strenuous with CAH, so the question sometimes arises that if treatment is exercise an extra dose of steroid treatment is advisable especially difficult for any reason, why not remove the adrenal gland? Adrenalectomy is not a minor operation and the long-term safety ofthis option has not been established. For some women in whom For those who wish to enter competition sports, the International all fertility treatments have failed, then adrenalectomy might be the Olympic Committee recommends declaring CAH and that steroids are being taken for medical reasons. The IOC is unable tocomment on whether hormone replacement steroids needed bythose with CAH would affect the status as a competitor. They werenot willing to be precise on drug testing procedures which wouldprobably include testosterone and related compounds. Theyconsider this an important issue, and with further investigations in Issues for adults with CAH – men and women
the future, would try to establish the effect of medication necessaryin CAH on the screening tests.
The Amateur Swimming Association can see no reason to exclude The problem of being over weight
any one with CAH from competitive swimming, but recommendedthat the ASA should be informed of the competitor’s condition prior Many people with CAH, women in particular, have a battle to avoid gaining weight. Mostly, weight gain in CAH is a side effect oftreatment with hydrocortisone, prednisolone or dexamethasone andto a lesser extent, the oral contraceptive pill if used. Short stature Travel
and depression can also make weight gain more likely. Carefulmonitoring of weight is important as prevention of weight gain isbetter than a harsh weight reducing diet. Careful adjustment of There should be no restriction for travel or recreation for individuals treatment and attention to diet and exercise should enable most with CAH. If activity is likely to be stressful or if the destination people with CAH to avoid obesity. A normal healthy diet which is does not have easy access to modern medical facilities, then is it low in sugar and fat and high in fibre is best. A sugar craving can wise to travel with hydrocortisone for injection. Vials of be hormone driven although the effect of various treatments is hydrocortisone for injection with syringes and needles should be unpredictable. Regular sustained exercise of an hour several times taken and a dose of 100 mg given into the buttock in cases of per week may be required to keep fitness levels up and weight trauma or severe vomiting. This action will make the situation safe until a doctor can be called. Supplies of hydrocortisone should bedivided between hand luggage and other baggage to that in thecase of one supply being lost or stolen there is always a back-up.
Will my baby get CAH?
A letter from a consultant can be useful so that contact can bemade if illness occurs and to document the need for syringes and It is very rare for a parent with CAH to pass the condition of to a needles. Long-haul flights can be stressful and a double dose of child – less than 1 in 100 chance. CAH is autosomal recessive condition meaning that one copy of a defective gene must beinherited from each parent to make an individual who ishomozygous for CAH. A parent with CAH has two defective genes Employment
but their partner is likely to have two normal copies that will makeup for the defect. That is, children of a parent with CAH will have In general there should be no restriction for employment for one defective gene and one normal gene. They will be individuals with CAH. Commercial pilots, police, fire brigade and heterozygous for CAH – a situation which has no effect on health.
the armed forces are special cases where almost any condition It is current practice to test the partners of people with CAH by requiring regular medical treatment can prevent employment.
measuring 17-hydroxyprogesterone in the blood rather than to havea genetic test. The chances of anyone with no symptoms or family Issues for women with CAH
fertility treatment will be required. On the whole, fertility treatmentswill be the same as for women without CAH where a fertility tablet, For those women who find coping with the medical, surgical, clomiphene citrate, can be given. If tablet treatment is not psychological or sexual problems of CAH difficult, support and successful then hormone injections (gonadotrophins, LH and FSH) counselling should be made available. Sensitive discussion with can be used to bring about ovulation. If all of these treatments fail specialists, general practitioners, fertility specialists, then in vitro fertilisation (IVF) might be needed but a specialist gynaecologists, counsellors, psychologists and CAH support fertility clinic with experience in CAH should be consulted at this groups can all be helpful. The difficulties experienced by some women with CAH arise because of decisions made many years agowhen less was known about medical and surgical care. Young For women with late onset CAH fertility problems are usually less adults now should not have to face many of the problems marked. In the mildest forms, steroid treatment might be necessary in order to conceive but it may be able to be stopped inpregnancy.
Unwanted hair growth and acne
Pregnancy
The high androgen levels that occur when cortisol treatment is too Once pregnant, both the mother with CAH and her child should low, commonly cause problems for women with CAH. For many expect to be healthy in every way. There is discussion as to women acne and excess hair growth, 'hairiness' or hirsutism are the whether there should be a slight increase in dosage of cortisol first features of high androgen levels. The aim of changing the replacement treatment in late pregnancy but high dose treatment dose of cortisol treatment is to reverse this process and it can be a should be avoided. The placenta protects the baby from any very fine line between keeping free of unwanted hair and suffering hormone imbalance in the mother and destroys any excess the side effects of cortisol treatment - in particular weight gain.
hydrocortisone in the circulation. In a recent review of 46 children Because of these difficulties, many women with CAH require born to mothers with CAH, all babies were healthy and normal.
additional treatment for excess hair growth to oppose the action of Two thirds of babies were delivered by caesarean section and only androgens. The 'anti-androgen' treatments available in the United one third by vaginal delivery. There are many reasons why Kingdom are cyproterone acetate, spironolactone, flutamide and caesarean sections might be common in women with CAH but one finasteride. Cyproterone acetate is the only one of these to be in worry is that earlier genital surgery might make normal labour common usage and it works by competing with testosterone at the difficult. Pain relief and the use of epidurals is the same in CAH as hair follicle to block the stimulation of hair growth. Anti-androgens are often given together with the combined oral contraceptive pillwhich reduces the amount of testosterone made by the ovary.
Gender Issues
Hirsutism takes several months to respond to treatment butcosmetic methods of treating excess hair such as waxing, shaving, Issues about gender often cause great concern but are not always creams or electrolysis are perfectly acceptable options which in no addressed. It is important to understand that male and female gender identities are established before birth and not affected byhormone changes later in life.
Contraception
Many women with CAH have successful heterosexual relationships, There is no restriction for the use of different contraceptives for though for some finding a partner is difficult. There are some women with CAH. The choices of contraception include the women with CAH who are more comfortable with bisexual and sheath, the diaphragm, the coil and oral contraceptive pills. The homosexual relationships but this may in some cases, have more combined oral contraceptive pill may have the added benefit of to do with their concerns about the formation of their genitalia, with making irregular periods regular. Some women, however, find that feelings of vulnerability and apprehension of a sexual relationship the pill makes it more difficult to lose weight although a low dose pill with men. The main point to remember is that if a woman has might get around this problem. Dianette is commonly advised for established heterosexual feelings, there is nothing about CAH that women with CAH because it is particularly effective in suppressing will change this, even if the testosterone levels rise from time to unwanted hair growth. Progesterone only pills - 'mini-pills' can be used by women with CAH but they can cause difficulties withirregular periods.
In all women, testosterone levels can affect sex drive or libido. Theeffect of testosterone on libido however, is very unpredictable. Fertility
Some women with CAH find that when testosterone levels are high,sex drive is increased. Reducing testosterone with higher dose of Most women with CAH have polycystic ovaries when pictured by an cortisol treatment can reduce excessive sex drive. A low libido is a ultrasound machine. In fact, one in four of women without CAH more difficult problem as it is rarely improved by changing the dose also have polycystic ovaries, so this in itself is not a worrying of treatment – counselling might be an answer here.
feature though, of course, a concern to the individual. Polycysticovaries are slightly larger than average and contain more small The attitude of parents and doctors to gender and sex, and their follicles, where the eggs develop, than average. Polycystic ovaries own perceptions of this area, can influence how girls and women are associated with irregular periods and infertility which are both cope with CAH. Women appear to manage much better if, as common in women with CAH. It may be that high levels of children and young adults, their parents and doctors were able to testosterone in childhood cause the development of polycystic discuss openly and sensitively, not just the medical side but also ovaries in some women but this is far from certain. High levels of the emotional and sexual issues. This affects how women perceive testosterone from the adrenal gland cause irregular periods and their genitalia/bodies as acceptable to others.
failure to produce an egg, ovulation. Irregular periods and failure toovulate can improve with higher doses of cortisol treatment but the Those who have been brought up with no information about the balance of treatment in this instance can be very difficult.
condition and are unable to talk to their parents or doctors, find itdifficult to over come common barriers when problems are brushed Irregular periods occur in about one third of women with non-salt aside and sexual matters are not considered as a matter for losing CAH and one half of women with salt-losing CAH compared discussion. A young adult, who will probably have had vaginal to one in ten of women without CAH. There is surprisingly little surgery will find it hard to ask for advice. She may find it very information about fertility in women with CAH and most of our difficult to be comfortable with her body, be anxious about the knowledge on this subject comes from a time before modern prospect of sexual activity and unable to see it as something fertility treatments. This 'historical' information says that two thirds of women with non-salt losing CAH are fertile without the need fortreatment whereas only one in ten of women with salt-losing CAH Genital surgery
are fertile. Most specialists feel that the prospects for fertility arebetter than these figures would indicate nowadays. If a woman with All girls with CAH are born with a vagina, but sometimes it is CAH has very irregular periods, then it is likely that specialist difficult to establish the position or size as these can vary considerably. The vagina may be covered with a small membrane size can be achieved. For those women who are not sexually and the clitoris is nearly always enlarged. Some girls with mild active, the vagina will tend to contract if dilators are not used forms of CAH, do not need any surgery.
regularly. It may be necessary to keep up a regular alternate dayuse of dilators for ten minutes or so. Some women feel less happy The timing of any surgery is dependent on the degree of virilisation with the dilators and prefer to use their fingers. However, this and the feelings of the parents after discussion with their specialist method takes time, perseverance, motivation, and the ability to feel as to the options available. In order to feel confident of decisions comfortable in touching the genital areas. Also, some women with about surgery a second opinion may well be helpful. Surgery to CAH may have relatively small fingers; if there is a partner, their reduce the size of the clitoris, a clitoroplasty, and to make a larger help may be of benefit until intercourse is comfortable. The use of vagina, a vaginoplasty, can be done at any age and opinions vary a dildo may also be acceptable. Intercourse itself can gradually increase the size of the vagina but it takes an unusual degree ofself-confidence to feel comfortable with this technique.
Surgery on the clitoris is relatively straightforward. The aim of aclitoral reduction is to reduce the erectile tissue and preserve the Some women find that everything to do with the mechanics of sex nerves and blood vessels to the glans, the tip of the clitoris, so that is very embarrassing. Teenagers, in particular, may find it difficult it remains sensitive. Surgery required for the vagina and urethra in to find support and understanding if their parents find this more complicated and varies considerably. If the vagina is uncomfortable territory. Extreme sensitivity is needed so that they positioned high near the bladder there can be the possibility of can discuss how they can improve what they may see as an damage to the neck of the bladder, which controls the release of inadequacy of their body. An experienced sex therapist might be urine. Great care must be taken as any damage to the bladder useful here. It must be remembered that women without CAH have could cause incontinence. Pelvic floor exercises can be of great genitalia in all shapes and sizes. The penis is a very adaptable help with any minor weakness with the bladder control, and will also organ which also varies greatly in size.
help to strengthen the vaginal walls.
It may be that the surgical and psychological issues of sex make it An examination just before the start of menstruation is often carried difficult for women with CAH to achieve an orgasm. The complete out to establish that the vagina is able to allow the use of tampons removal of the clitoris, pain on intercourse, poor vaginal lubrication and also to make sure that the vagina will be big enough for or lack of self-confidence may all contribute to a failure to achieve comfortable sexual intercourse. Some specialists prefer to do this orgasm. A gynaecologist with specialist experience or sex therapist examination under a general anaesthetic, which though not strictly should be able to help overcome these problems.
necessary, can make it less embarrassing for the young adult.
Social concerns
Some women may require surgery later in life for an enlargedclitoris or because of a small vaginal opening. It is rare for the As has already been said, those who have been able to have an clitoris to enlarge in adult life unless the control of CAH is very poor open and informed relationship with their parents and doctors find for a long period of time so that high testosterone levels cause the the hurdles of CAH easier to overcome.
growth of the clitoris. Despite earlier surgery, the clitoris mayremain relatively large in some women. In adulthood, vaginal Adolescence is often a difficult time. If, added to this you have a surgery may be required to ensure comfortable sexual intercourse condition which requires you to take regular medication, you may and to reinforce confidence in feeling feminine. Even if surgery on “different” and vulnerable making you unsure about relationships.
the vagina has taken place in childhood, it is not unusual for the Adolescent girls with CAH may need a lot of support. In all adults opening of the vagina to be small. There are many surgical there are times when depression occasionally can lead to feelings procedures using different methods to enlarge and line the vagina.
of suicide. Some women with CAH feel that extreme mood swings ‘McIndoe’ techniques use skin grafts from the buttock of thigh to are often caused by hormone imbalances and these concerns need form a ‘tube’ like new vagina. Alternatively, a part of the colon can careful, sensitive discussion with a specialist. For young adults and be transplanted to the vaginal space. Women needing vaginal women, counselling can be of great help in establishing self- enlargement should have information on the various techniques esteem and confidence and in developing strategies to cope with available and be allowed to discuss all the possibilities. For difficult situations that may be experienced with relationships. With example, the two surgical techniques described above leave scars a counsellor, it may be helpful to discuss and understand more and increasingly experts feel that the less invasive use of dilators is about the condition. For many it will be the first time that they can best for women even for those who have a very short vagina.
talk openly about the issues of sexuality, how they perceive their There are some surgeons who feel that vaginal surgery for an adult bodies and female needs and how the individual sees the effect of should only be considered if there is already an established relationship. The alternative view, often held by womenthemselves, is that early surgery is necessary for sufficient How and when to tell a partner about CAH can be a difficult confidence and self esteem to establish a sexual relationship.
problem. If you have confidence about your self it is much easier toput the condition into perspective for the person you are telling.
Surgery now has much improved over the past 30 years and the Just because they now know you have CAH, this does not mean involvement of patients in decisions affecting their care has you have changed from the person they knew or loved before.
increased. Adults, who had surgery many years ago, may This is not to be dismissive of the very real feelings a lot of women experience more difficulties from the effects of surgery, than those have about the fear of rejection from a potential partner. Feelings of who have had more up to date operations. For instance, the being and looking different can put women off even trying to practice of complete clitoral removal, clitorectomy, was once quite establish a relationship and may also cause overwhelming despair common. Alternatively, some erectile tissue of the clitoris might and depression. Some women find that talking to a counsellor who have been left secured under the skin in front of the vagina, this is not emotionally involved, can be of great help in generating can be extremely painful during intercourse. Also, the glands that secrete the vaginal lubrication prior to and during intercourse mighthave been damaged making is necessary for a lubricant, such as The importance of adequate professional counselling has not really KY jelly to be used for comfortable intercourse. Some women been addressed in many hospitals. Ideally it should be given by notice a build up of scar tissue after more than one operation on counsellors who understand CAH and the issues that arise from it.
the vagina. This can cause lack of sensitivity within the vagina or Always ask your doctor about counselling if you feel that it may be pain during intercourse as the scar tissue is not pliable and does helpful. Some women find talking to others with CAH more helpful, not stretch easily. Oestrogen cream applied to the vagina or the as they feel they may well have experienced the same difficulties, use of dilators can overcome some of these problems In most women, a small vaginal opening or shortened vagina canbe improved with dilators of various sizes that will allow successfulsexual intercourse. By applying gentle but firm pressure to thevaginal opening by inserting a plastic dilator and, over a period oftime, gradually introducing a larger size of the dilator, the size ofthe vagina will increase. Within months a significant increase in Issues for men with CAH
What effect does drinking alcohol have in my treatment?Moderate drinking of alcohol has no effect on CAH or its treatment.
Large amounts of alcohol can affect how the liver breaks downsteroids making treatment less effective. However, if you are The problems of weight gain and the side effects of treatment can drinking excessive amounts of alcohol then you have more to worry affect men as much as women. Short stature, which can result for difficulties in treatment of CAH in childhood, can be a particularpsychological burden for men. High levels of testosterone in CAH Can people with CAH be extra aggressive? can cause problems with aggression and excessive sex drive in An excess of testosterone when CAH is under treated can lead to aggression. However, many things in life can contribute toaggressive behaviour including having a condition for which there is There are two important long term consequences of CAH which no cure and facing frustrations with relationships or with fertility only affect men, both of which are the result of too little treatment problems. The advice of both a hormone specialist and a with cortisol. These are infertility and testicular enlargement. If adrenal suppression is inadequate then the adrenal gland makestoo much testosterone. High testosterone production from the What are the long-term effects of steroid treatment? adrenal gland can occur because the dose of cortisol is too low or In the modern era when the doses of steroids tend to be lower than because tablets have been missed. The testicles, which also make in the past, no long term problems with steroid use are anticipated.
testosterone, then shut down as the testosterone levels are high.
If there have been times when high doses of steroids have been Unfortunately, 'shutting down' the testicles also means that sperm used then osteoporosis is about the only long term hidden problem.
are not produced in normal quantities and this can cause infertility.
A measurement of bone mineral density can be made to test for Sperm production usually picks up if the adrenal cortisol treatment is increased allowing the testosterone production from the adrenalglands to fall, so the testicles can begin to work again. It can take I seem to get a lot of infections - can this be part of CAH or its several months the sperm count to rise after an increase in steroid Steroids - not CAH itself - can lower the effectiveness of theimmune system. For instance, people who use high dose steroid Testicular enlargement is a rare effect of under dosage of cortisol treatment after an organ transplant are more prone to various treatment and it takes many years of inadequate treatment for this infections. The standard doses of steroid treatment used in CAH to occur. Normal testicles contain a few adrenal cells that enlarge if should not have this effect but occasionally it seems that some the levels of cortisol in the body are low. This enlargement usually people are particularly sensitive to one of the effects of steroids goes away if the dose of cortisol treatment is increased.
such as immunity. If frequent infections are a problem then Occasionally doctors advise a biopsy of the enlarged testicle to specialist advice should be sought but doctors often have no easy make sure that there is no hidden cancer. CAH does not cause cancer but it is reassuring to make this check.
I don't get on with my doctor, what should I do?Your relationship with your doctor is personal thing - some workand some don't. It is worth while trying to find a doctor whom you Frequently asked questions about CAH
find sensitive and understanding as you may need them for a longtime. Try talking to friends or support group members about who What should I do if I miss a steroid tablet? they find helpful. Don't be afraid to try a few out or to get a second If it is only a few hours since the dose was due, then take the opinion. Also remember that there may be times when you need a treatment when you first think of it. If the next dose is nearly due technical expert who may not be the worlds best communicator.
then don't take a double dose - just leave the missing dose out.

Source: http://www.endocrineonline.org.uk/pdf%20box/cah.pdf

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