PRIMARY AMENORRHOEA CONTINUED

TURNER SYNDROME

One of the other causes of Primary Amenorrhoea is Turner Syndrome where one of the female sex chromosomes is missing.
They are usually of shorter stature, they usually appear in teenage years due to lack of developmental disorder.
Some of these features are seen in this picture. They do have a uterus and maybe very small ovaries and the ovarian failure leads to Amenorrhoea. Diagnosis is made by clinical features, chromosomal analysis and ultrasound.
The current medical research in IVF can help some of these women to achieve a pregnancy with donor eggs.
I had two such patients that I looked after, they require hormone replacement to keep them healthy until the normal age of menopause.
The other common cause of primary amenorrhoea can be what we call Congenital Hyperplasia. This is due to a deficiency of a particular enzyme.
As a result of this the female baby becomes masculinised, it can happen in male foetuses as well, these babies are born with ambiguous genitalia but their chromosomes are normal.
These children have multiple problems with adrenal function. they need to be treated with paediatric endocrinologists.
Many other causes of primary amenorrhoea are tumours of the pituitary, failure of the female organs to develop and the failure of the organs to function.
Primary Amenorrhoea is a difficult complex disorder of infancy, child hood adolescence it needs to be treated by a group of experts including paediatricians and gynaecologists.
However don't forget the simple diagnosis of pregnancy should not be forgotten as a young girl with normal secondary sexual characters maybe pregnant although she has not had a period. The very first ovulation she can conceive. I have seen two such cases in my time. One of these girls was only twelve years of age and was brought to hospital at full term in labour.
This is just a very brief summary of Primary Amenorrhoea just to point out  some important points;
1- When a baby is born with ambiguous sex it should be seen urgently by a paediatrician.
2- Babies suffering from Congenital Adrenal Hyperplasia (CAH) can be both male or female and their external sex is confusing, they also suffer from salt losing problems. They are life threatening and should be seen by a paediatrician.
3- The most common causes of Primary Amenorrhoea are Chromosomal Abnormalities - 50%
4- Hypothalamic Hypogonadism including Hypothalmic Amenorrhoea - 20%
5- Malformation of pelvic organs for example absence of the uterus, vaginal septum and imperforate hymen -20%
6- Pituitary disease , like tumours and infections -5%
7- Excessive weight loss like Anorexia Nervosa , obesity, psychiatric disorders and malnutrition -5%

The investigations are mainly;
1- Chromosomes, 2- Imaging, 3- Hormone Studies

Treatment depends on the cause mainly;
1- Lifestyle Factors, 2- Hormones, 3- Surgical Corrections

Finally don't forget pregnancy and take your child for medical advise as soon as possible.
       

PRIMARY AMENORRHOEA

In this post today we will talk about Amenorrhoea(AMENO), this can be Primary or Secondary.
Primary Amenorrhoea a women has never had a period, but in secondary Amenorrhoea a period did start and then stopped.
(The word AMENORRHOEA is derived from the Greek A meaning NO and Men means month and Rhoea means flow.)

Today we will only discuss about Primary Amenorrhoea as the two topics together make a very long post.
To have normal periods you need a normal brain hypothalamus pituitary function as described in the menstrual cycle, and in addition to this you need a normal functioning ovary and a normal uterus, cervix and vagina. In addition to this there hormones should be co-ordinated and beside the ovary some other hormones also participate , such as the thyroid and general health also plays a role.
The abnormalities often start during foetal development due to chromosome and genetic defects.
The management of this problem should start at birth especially if the sex of the new born is ambiguous. These problems can be classified in various groups but I will just talk about random abnormalities. The domain of the treatment of these complicated abnormalities is in the hands of paediatric endocrinologists.

One of the interesting and not so rare conditions is called Androgen Insensitivity Syndrome is when a foetus who is genetically male(who has one X and Y chromosome) is resistant to male hormones(called Androgens). As a result the foetus develops the features of a female baby, and when this child grows up it looks like a very attractive female. She is tall, slim, attractive with normal breast development, flawless skin, however the female organs are not there except for a small depressed area for the vagina. These are called complete Androgen Insensitivity. Some of these may be incomplete and then they have features of both sexes. The testes often lie in the lower abdominal area , if that is the case they should be removed as they are prone to cancer. This individual always grows as a female and the diagnosis is made when they have no period(Primary Amenorrhoea). The diagnosis is confirmed by blood tests, and genetic testing which will be XY and ultrasound which will show no female organs. these women are treated by hormone replacement therapy , psychological counselling and removing of small testicles as already mentioned.

Most of these individuals suffering from AIS live as women and become involved in sports, modelling and working in the hospitality industry. In fact some of these women in these trades became very famous, and in fact until very recently if there was any doubt about there femineity there chromosomes were tested and if found to be XY they were removed from these sports, but since then it has been worked out that these androgens in these women do not work like normal androgens hence the name AIS, so this rule of ruling out AIS women with XY chromosomes from the sports has been removed.
In this day and age where we have the access and knowledge to all these tests that can be done, we should test a child when it is born should the genitalia be inconclusive.

One of the other situations that you may come across is a young girl who is between 14 and 16 years of age, has normal secondary sexual features but has not had a period, she should be investigated, they can often have pre menstrual symptoms, regular menstrual period pain but no period.
They often have an obstructive abnormality of the genital tract, meaning thereby their cervix, vagina and the hymen. They have a period but the blood cannot flow. If not released it gathers within the vagina, the uterus and the tubes whereby destroying them. The hymen abnormality is easily fixed by a cross incision on the area. If there is a vaginal septum it can be removed, the cervical stenosis is difficult to correct. If the uterus is absent and the ovaries are present the women do suffer pre menstrual symptoms but generally they do not have any complications, these days these women can have a surrogate pregnancy by using their egg and their partners sperm. If there were any problems with the vagina causing difficulty during sex it can be constructed.

We will continue this conversation in the next post.

   

PUBERTY

In this post we will talk about puberty. Puberty is the time when young girls undergo changes to their body, which matures them into being a woman, and from then on, they can carry on the most important human function of reproduction.
When I was a young girl there was no sex education in those days, and we never understood what puberty was. I remember one fine morning at the school that I had some vaginal bleeding and my best friend who was in my class who was slightly older than me and I went to her saying that I have got Tuberculosis down below. In those days the only cause of any bleeding we had known was Tuberculosis of the lung. She told me that it was menstruation and we discussed this in detail as she had started having her periods one year earlier. So you can see that the time of puberty varies in individuals depending on their general health, nutrition and lifestyle.
Therefore my sex education was derived from my classmate.
The boys also undergo maturation slightly later than girls, but in this post we will focus on girls only.
The word Puberty is derived from the Latin called PUBERATUM MATURATION.

As discuss in my previous post on menstruation we have certain glands in our body called endocrine
glands which produce chemicals that produce hormones. These hormones are linked to the site of the action via the blood stream. The main glands concerned in our maturation are Hypothalamus, Pituitary and Ovaries(Sex Glands in Females and Testes in the Male).

 What happens at puberty under the direction of these hormones from the brain and the gonads, the breasts start to grow like little buds and then the second area of change is the appearance of pubic hair and axillary hair. In addition to the breasts and the hair their bodies start to change shape as years go by, they also have a special body odour. It is not uncommon for them to get changes in their skin and develop pimples.
In the genital area the mucosa of the vagina thickens and the labia minora changes. The vagina thickens and its PH changes. The eggs start to undergo maturation.  The uterus enlarges and it achieves adult size and finally menstruation starts. Recently the hormone called Kisspeptin has been identified from the hypothalamus and this is supposed to kick start the menstrual cycle.

There can be some developmental abnormalities at puberty which we will discuss in future posts.

In summary the main hormones involved are from the hypothalamus,( Kisspeptin, GnRH,) Pituitary,(LH , FSH), Ovaries(Estradiol and Progesterone).
They have a self regulating control.
A small amount of testosterone comes from the ovary and another gland called Adrenal.
Adrenal is useful for the development of hair follicles.
We have also described these in the menstrual function.

MENSTRUAL CYCLE AND MENSTRUATION

All living beings great and small have the main function of reproduction including humans.
The menstrual cycle is an integral part of this reproductive function. It is called menses and it is derived from the Latin word meaning monthly.
The main organs involved in this monthly cycle are Hypothalamus and Pituitary and they are located in the brain. The main female sex gland is called the ovary and it is located in the abdomen close to the uterus and the two tubes. The uterus is connected to the outside world by the cervix and the vagina. The chemicals produced by the hypothalamus and pituitary glands are called hormones which in turn act on the ovary which produces its own hormones. They help in the maturation of the egg and preparation of the uterus to receive the egg if fertilised.
If the pregnancy does not occur the prepared lining of the uterus is shed causing bleeding and this is called menstruation.Usually the menstruation starts around the ages of ten to fourteen years, and lasts for forty years in a women's life. The menstrual bleeding lasts three to seven days and blood loss is about 30 - 50 mls. The cycle usually varies between twenty-one to thirty five days.

It is only recently that we have started to understand what triggers the menstrual cycle.
They have found a new chemical called Kisspeptin which is supposed to trigger the hypothalamus to produce a hormone called GnRH.
GIIRH stimulates the pituitary to produces its hormones — follicle stimulating hormone (FSH) and luteinizing hormone (LH). These hormones ultimately cause the egg maturation and ovulation (the release of the mature egg from the ovarian follicle.

Under the influence of FSH, several primordial follicles start maturing but only one becomes the dominant follicle for the cycle.  The growing egg produces oestrogens, The oestrogens produced by the egg stimulate a surge in the production of another hormone LH by the pituitary gland. This surge in LH causes ovulation in the middle of the cycle, about fourteen days after the follicle starts growing.

After the egg is released, the remaining cells of the empty follicle turn into what is called the corpus luteum (Latin for ‘yellow body’) which then produces the second of the female hormones, progesterone, in the second half of the menstrual cycle. In the first two weeks of the menstrual cycle, leading up to ovulation, the oestrogens help the growth of the lining of the womb (the endometrium). In the second two weeks, the progesterone matures or ripens this lining.

            If conception occurs, nutrition and support is provided by this lining for the growing embryo. Progesterone levels remain elevated, ensuring the stability of the womb lining, and enabling the pregnancy to continue. However, if fertilisation does not occur, an abrupt fall in oestrogen and progesterone levels takes place about 10—12 days after ovulation. This drop in hormone levels destabilises the lining of the womb, which is then shed as menstrual flow indicating the end of the ovarian cycle.

Menstruation is a reassuring sign that the ovarian function is normal. A new cycle of egg maturation begins.

At the time of menstruation other specific chemicals called prostaglandins are produced in the endometrium which may be responsible for period cramps, headaches, nausea and dizziness which can accompany a menstrual period.

 

Key points

1.     The ovary, the female sex gland, is the main organ concerned with menstruation, reproduction, production of the female hormones oestrogen and progesterone, and menopause.

2.     The ovary lies dormant from birth to puberty and becomes dormant again at menopause, after four decades of reproductive activity.

3.     It is now being researched what biological catalysts activate, and then end, ovarian activity.

      4.   Oestrogens play the key role in maintaining a woman’s health during the reproductive years.

      5.   There are many issues about menstruation that need to be discussed, such as;

A-Puberty, B-Amenorrhoea,(No Periods), C-Premenstrual tension(PMT),D-Painful Periods,

E-Heavy and Irregular Bleeding, F-Polycystic Ovaries, G-Contraception.

All these problems will be discussed in future posts.

 

 

 

 

REMAINING VULVAL DISORDERS

For the last few posts we have been focusing on various skin and mucous membrane problems that cause vulval pain ,discharge , discomfort and dyspareunia, most of these have already been elaborated on and I will discuss the remaining few today. It is very difficult to discuss all of them as many of them such as psoriasis, tinea, and lichen planus effect almost all parts of the body covered by skin and mucous membrane and they often come under the domain of a dermatologist.
One of the common group of inflammatory conditions of the vulva  are called; 1-Lichen Planus, 2-Lichen Simplex Chronicus, 3- Lichen Sclerosis.

Lichen Planus is an erosive condition of the vulva which can affect both the vagina and the vulva, besides the genital area it can affect the scalp, hair and legs.
It has a reticulated purplish appearance which is very painful and uncomfortable. The diagnosis is confirmed by a biopsy and has a malignant potential, there is no definitive treatment, the patient needs reassurance, local emollients and steroids. Some people have tried testosterones. Recently cyclosporine are being tried.

 The above picture is Lichen Simplex Chronicus.

This also causes itching and leads to chronic rubbing and scratching , this usually affects the labia Majora, Labia Minora, and Labia Crural Folds. The vagina is not involved, this can result from chronic infection , anxiety conditions such as Psoriasis, Eczema. The skin becomes thick and leathery as you can see in the above picture and brownish. So the treatment is again reassurance, tranquillisers, antihistamines, anti pruritic agents and corticosteroids. The cause of chronic anxiety or infection causing the itch also needs to be treated.

Lichen Sclerosis is a chronic inflammatory disorder of the skin affecting both genital and extra genital skin such as the armpit, neck and shoulder and sub memory fold below the breast.
It can occur at any age including children, usually if it occurs in young girls it goes away as they mature. Most often it occurs in post menopausal women. Again like other vulval skin problems it causes itching and pain. The skin gets thickened and causes adhesions. The local tissues are destroyed. We are not sure what causes this, but like Lichen Planus it is thought to be auto immune.
Autoimmunity is a process in which the body fails to recognize itself and therefore attacks its own cell and tissues.
The treatment consists of avoiding commercial body washes and antiseptic solutions. Washing with a freshly made saline solution of two teaspoons full of salt with one litre of water is very soothing.
You need to do this twice daily for several weeks, then repeat the wash as required.
Daily strong tropical steroids are required on your doctors advice.

Lichen Planus and Lichen Sclerosis both have a five percent cancer potential , therefore it is very important to have six monthly regular appointments with your gynaecologist.



The vulval conditions described above need patient education, psychological  counselling, avoidance of commercial gimmicks, symptomatic treatment, saline washes, emollient's, corticosteroids, treatment for any inter current infections, ie: Thrush, (Candiasis) and above all regular check ups, and never treat yourself without correct diagnosis by a professional.

Bartholin's Cyst and Abscess

Bartholin gland is a small gland that lies in the entrance to the vagina and basically a small amount of fluid keeps the vagina moist which is useful during sexual intercourse. It has a small gland which carries the fluid to the vagina. If there is any infection the area, this little duct gets blocked and can cause a Bartolin's Cyst or Abcess. The important thing to know is that if it keeps happening it needs attention to exclude STI and often it requires drainage.

The above picture show the location of a swollen Bartholin Cyst and it's drainage.

Genital Herpes

Genital Herpes is caused by type one and type two herpes virus, initially not much attention was paid to this, but nowadays it is the most commonly transmitted disease. To prevent from yourself from getting herpes is to always use condoms, use suppressive viral therapy to protect your partner and avoid skin trauma by using silicone based lubricants.
The diagnosis is made by a swab test from the lesion, the blood tests are not so accurate. The initial attack of herpes is very painful. The treatment is anti viral drugs called Valtrex, Famvir and Zovirax.
The frequent occurrence can be treated by taking one tablet daily, this also protects transmission to the partner. It is very important to avoid herpes in the last few months of pregnancy as it can be dangerous to the newborn baby, and if the mother has an active rash on the vulva, the baby should be delivered by caesarean section.


Human Papilloma Virus is another virus which affects the female genital organs, particularly the cervix and the vagina and the vulva. The visible disease that is causes is the warts, otherwise it causes changes in the cervix which in the long term can lead to cervical cancer. To avoid cervical cancer that the smear test is implemented around the western world.
Please ensure that you have regular smear tests.

Another cause of vaginal discharge in post menopausal women is due to lack of oestrogens and it can be easily relieved by local oestrogen. However any women who suffers from irregular bleeding in the older age group must be investigated to exclude malignancy.

Often the vaginal discharge is due a foreign body and often this is a forgotten tampon.
The four tests which are useful for all these diagnoses  is a cervical smear, swabs, biopsy and ultrasound.

You may have to read or research more to increase your knowledge on vulval vaginal infections.
And this is all from me on this topic.

In future posts we will continue our journey on Womens Health problems.

SNIPPETS OF INFORMATION ON VAGINAL DISCHARGE

1-Vaginal discharge is a variable subject what is normal for some women may be abnormal for others.

2-If you have a vaginal discharge do not start treatment without a diagnosis. What you may consider as just Thrush may even be malignancy. I have recently two such cases in older women. Post menopausal women generally do not get thrush until they are diabetic or using HRT.

3-When you have recurring Candidiasis it can be due to any oestrogens you may be taking, high oestrogen pill, poor diabetic control and due to another variety of Candida called Candida Glabrata.
For this you require stronger treatment called Intraconazole 200 mgs twice a day three times a week , then twice a week for four weeks.
There are other forms of treatment which you GP will advise you on.

4-When should you treat the male partner in recurring Candidiasis? The candida store itself in the seminal vessels and a culture of the semen should be done, and if positive the partner should be treated. The should also be treated if they have an infection of the penis and be given a local cream.

5-In cases of recurring candidiasis saline was once or twice a day is very comforting, it also helps with other inflammatory conditions , such as vestubulitis.

6-The other treatment could be , change the pill, control diabetes and general hygiene, not share garments with each other.

7-Boric acid gelatine pessaries can be used once or twice. If used frequently they can be toxic.

8-Vagina can be painted with Aqueous Gentian Violet 0.5 percent to 1.0 percent, once a week.

9-Last but not the least Depoprovera injections are often very useful to control Candidiasis.
One has to be careful if it is used long it can cause 1.0 percent loss of bone density thus causing osteoporosis.

10-Avoid local antiseptics, perfumes and commercial moisturisers. Anti histamines and Amytriptaline at bedtime is very useful. Chronic treatment of recurring Candidiasis can cause eczematic rash and local dermatitis.

So the take home message is , take the correct treatment after the correct diagnosis.

The next post will be on the remaining Vaginal Infections and Inflammations. 

SUPERFICIAL VAGINAL INFECTIONS

While we are talking about Dyspareunia, let us complete the subject by talking about Superficial Vaginal Infections(SVI) and inflammatory conditions called Vulvar Dermatoses, they also cause Dyspareunia, Vulvo Vaginal Pruritus and Vaginal Discharge.

All women have vaginal discharge during their reproductive life, in varying amounts during their menstrual cycle. I wonder if any of you have ever thought what a great house keeping function this discharge does by keeping the vagina clean, by washing away the dead cells and infections.
This normal vaginal discharge comes from the glands located in cervix and the vagina.
There is increased discharge at appropriate times such as ovulation and sexual arousal.
It is very important to keep the personal vaginal hygiene up to date.

The question is where do these infections come from, some of the organisms are locally present and under conditions favourable to them , they start playing around and cause disease, the commonest of these is a fungus called Candida.
On other occasions the infections come after child birth, pelvic operations, sexual intercourse, unscientific use of antiseptics, scented soaps, bubble baths and washes and the list can go on.
The main discharge problems along with pain and pruritus are as follows;
1-Candidiasis,2-Bacterial Vaginosis,3-Trichomonas,4- Nabothian Follicles,5-Cytolitic Vaginosis,6-Streptococcal Vaginosis,7-Erosive Vaginitis,8-Atrophic Vaginitis,9-Chlamydia,10-Gonococcus,11-Foreign Body, 12-Malignancy.

We have already discussed Chlamydia and Gonococcus in our previous post on PID, its difficult to discuss all the above conditions, but we will discuss the commonest of these being Candidiasis, Bacterial Vaginosis, and Trichomonas.

VULVO VAGINAL CANDIDIASIS(VVC)
It is estimated that 50 to 70 percent of women of all ages during their reproductive life suffer from at least one episode of VVC.
They generally do not suffer prepuberty and postmenopausal, because Candida loves oestrogen and oestrogen milieu and during this period of life is absent or low.
The infection is caused by a variety of Candida Albicans, the other variety of Candida often found is called Candida Glabrata and this requires special and stronger treatment.

Vulva and Vagina are both involved but often not together. In diabetic women VVC is often very severe the area looks very inflamed and swollen and the infection spreads to the groin and perianal area.

The symptoms of VVC can be mild or severe and they include severe itching, and maybe pain on passing urine. The risk factors are pregnancy when the oestrogen level is high, use of antibiotics, diabetes, and HRT.

The diagnosis is easy considering the history, and examination which shows redness and white curdy discharge in the area.
There is a simple office microscopic test using saline and sodium hydroxide which shows fine filaments which is called pseudohyphae, this test also shows Trichomonas vaginalis -this organism will be readily recognisable by its characteristic movement.
Bacterial vaginosis -have a special cell, called a clue-cells.
We can also see the hormone status of the individual by looking at the vaginal cells. So this test gives a lot of information. Still it is best to send a vaginal swab, cervical cytology and STD test in high risk patients.
The treatment of VVC is to remove the risk factors, control diabetes and for the very first episode, local vaginal nystatin cream for one week, this can be used during pregnancy as well. It is important to clear candidiasis in pregnant women because it can be passed on to the baby at birth as an oral infection, subsequently the baby can pass it on to the mother during breast feeding.
If candidiasis persists we have to look for the reasons for persistence, I often do a glucose tolerance test to exclude diabetes, if they are on high dosage oestrogen pill, change the pill or use a different type of contraception. Depoprovera and Mirena are good alternatives. Mirena is a progesterone releasing intrauterine device. DPMA is an injectable progestron which is given by a IM injection of 150mg every three months.
Both these are good long term contraceptives and help in getting rid of chronic candidiasis.
Long term recurrence requires long term treatment, which is given over a period of six months.
1- Vaginal nystatin pessaries every night or alternate night for six months.
2-Oral flucanazole of 100mg twice weekly for six months.
3-Oral ketoconazole 200mg a day for six months. This is hepatoxic, so the liver needs to be tested every two to three months.
The vagina can be painted with gentian violet weekly for several weeks.

Once again the subject that we have just discussed needs more time and information and this will be followed up in our next post.