GENETIC OR CHROMOSOME ABNORMALITIES

Let me focus on chromosomes, these are thread like bodies in the living cells of each living being which give us our particular characteristics, these contain our DNA and GENES. As the cells divide they must transfer the exact number of cells into the new cells. We humans have 46 chromosomes and they live in pairs. 44 of these give us our characteristics e.g. our height, our eyes, that we get from our parents. Two of these chromosomes are sex chromosomes X and Y. A human female is XX and male is XY. When reproduction takes place these can be mixed up and produce children with abnormal sexual identity. When the chromosomes in other 44 pairs are mixed up they produce children with physical abnormalities named as different syndromes. Many of these have been identified and named but we are still working on many others when we cannot give a diagnosis to an abnormal child.

In this post I am going to describe two such cases with abnormalities of sex chromosomes.

Ronald and Teresa came to see me because they had been married for four years and unable to achieve a pregnancy. Teresa was 26 years of age well built like a normal female. She has never had any problems with her menstrual cycles. It seemed that she makes an egg regularly and in fact her test for ovulation was very good. Ronald’s who was 28 years of age was normal in appearance, normally men with Klinefelter  Syndrome are taller, but he was of normal height ,5ft 7inches he had no gynaecomastia(Breasts) which they often have, although the hair on his face and hands was scanty. This is another feature of Klinefelter Syndrome. Cardiac abnormalities are also noticed with this syndrome however not in this case.

A test for semen analysis showed azoospermia. The testicular hormone was low. When his chromosomes were done they were XXY which is a predominant feature of Klinefelter Syndrome. So obviously he had Klinefelter Syndrome. Sometimes the chromosome can go haywire they can be XXXY and so on. More number of X chromosomes, more obvious the condition. This was first described by Harry Klinefelter in1940 hence the name. It occurs in one child out of 590 births .Things can be improved as regard the appearance of the adolescent if diagnosis was made early and he had been given testosterone as an adolescent. In some modern cases infertility is treated by IVF by intracytoplasmic injection. I had referred this couple to IVF.

STORIES OF THE APPENDIX

               Lisa a teenager from Fiji was visiting our country. A few days after arriving here, she came to see me complaining of pain on the right side of the lower part of her belly. Her menstrual periods were regular and her last period was ten days ago. She was not feeling sick or nauseous and had no temperature. I felt she may have a small cyst or an egg growing on the right ovary causing her pain. She had some pain (tenderness) on pressing on the right side, which we call the appendix point. So the other possibility was appendicitis. But she had no nausea or fever which often comes with appendicitis. I did an ultrasound of the pelvis myself. This was normal there was no pelvic pain and the ovarian follicle (egg) was growing on the left side.

              The egg usually grows only on one side. I gave her some pain relief, reassured her, and let her go home. The pain persisted for almost six weeks. The family were not very happy; I decided to do an appendectomy. At the time of the operation the appendix looked normal. The report on the appendix picked up two shotgun pellets at the tip of the appendix. They were about five mm each. She had a rabbit (poor rabbit) for dinner several weeks ago while she was in Fiji. She never had the pain again after appendectomy. Lesson from this story is always pay attention to patient’s symptoms

THE O     THIS STORY IS SIMILAR BUT NO PELLETS

CARCINOID TUMOUR OF THE APPENDIX

Carcinoids are rare slow growing human tumours. They rise

                from nerve cells and glands. The common sites for this are the

                Gut, even more common is the appendix. Rarely they form in the    lung as well, and not show in this diagram.

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They e    They are more common in men. The case I have described here      was of a woman. About  140 cases are diagnosed each year in  Victoria.

               Tina a 36 year old healthy looking woman came to see me

               complaining of pain on the right side of her belly and this had been    going on for last two years.

               We call this appendicular point. She had seen many specialists, a    gynaecologist, a physician and a general surgeon. They could not  explain to her why she has this pain. Carcinoid can often be silent.  They can also cause pain, diarrhoea, weight loss and hot flushes as  they secrete special types of hormones for the working of the  digestive system .They occur if there is increased acidity in the gut.  She had many investigations, a FBE, electrolytes, liver function, and  an ultrasound including the pelvis and appendix. The pelvic  ultrasound showed normal ovaries and uterus no other pelvic  pathology was seen.

               The appendix showed an indistinct mass in the  distal part as shown in the above picture. There was some yellowish homogenous mass in the  lumen. The posterior wall component and periserosal fat was normal. The finding surely indicated an abnormal appendix probably a carcinoid. I told her to go back to the surgeon and ask him to remove her appendix if he was not happy to do this come back to me, and I will do it for her. When he did it turned out to be a Carcinoid of the appendix. I saw her twice after the operation with a one year interval.

              Repeated the ultrasound and tumour markers. Tumour markers are recent tests which indicate any tumours in the body. She has been very well and sends me her friends from far off places for correct diagnosis and Xmas cards. The lessons for me from these two cases were; listen to my patients, be attentive and think of rare  diagnosis.

FIBRIODS IN TEENAGERS

Teresa aged 16 of Italian decent came to see me in my consulting rooms with her dad, they were both very irate. Her dad was told by her GP that she may be pregnant; however she denied it with great anger.  She was well developed, very understanding and knew what he was talking about. I advised them to sit down and calm down. The only problem she had was a sizeable lump on her belly, and she had to go to the toilet frequently, which was a nuisance particularly during school. I examined her in my office. It did not take me more than a few seconds to know what it was. Besides that she had an intact hymen. So the question of pregnancy did not arise. I told them it was a uterine fibroid, which was about the size of a football. I also explained to them that although the fibroids are the commonest tumours in women between the   ages of 35 T0 50, the percentage quoted in the literature varied between 35 to 50%. I had seen one case of fibroid tumour about 5 years earlier in a girl aged 15. These tumours are very rare in teenagers; however I think Teresa had a fibroid.  Teresa’s pregnancy test was negative which reassured him. There was no ultrasound in those days. Her dad was happy that she was not pregnant and requested that I treat her. So far in the last 50 years only 19 cases of teenage girls with fibroids (they are also called myomas) are reported in English literature. I am sure there will be a few more. I did not report this case, as I did not have the facility to do so. However I never saw another case in my 55 years of practicing as a gynaecologist.

The most common treatment in those days and even now is a simple operation called myomectomy. This means removal of the fibroid or fibroids, depending on if there is more than one. This does not disturb the young girl’s reproductive function. In some cases the fibroids are reported to have reoccurred, than another myomectomy is performed. The risk of myomas being cancerous is very rare. It has been estimated to be one in 1000.No malignancy was reported in the 19 cases described in literature. I performed a myomectomy on Teresa. From then on I saw Teresa every 6 months. Later on when ultrasound became available, then I used this for Teresa on her subsequent visits. I was very lucky during my active practice years that she had two pregnancies, and I delivered two lovely boys for her by caesarean section without any trouble. It is mandatory to deliver babies by caesarean section after myomectomy. Labour can damage the uterus. 30 years down the track I still see her some times.

These days the treatment of fibroids has improved. There are many drugs we can use to decrease the size of fibroids so that myomectomy and hysterectomy become easier, there is less blood loss, recovery is easier.  The other technique is uterine artery embolization,( UAE )this means the blood to the uterus is impeded, then less blood goes to the fibroid and it dies. Both these types of treatment are not offered to teenagers although recently a 12 year old girl with fibroid and severe bleeding as well as a Bleeding Disorder had an UAE.

The latest is a new machine which uses a very high intensity focussed ultra sound in conjunction with an MRI. After detailed assessment of the women and detailed preparation it kills the fibroid. If the fibroid is a very large one it requires more than one focussed area. This has not been used in teenage woman with fibroids so far.  The Royal Women’s Hospital in Melbourne, Australia has the one and only machine for this method of treatment.

In conclusion never exclude fibroids if a young girl presents with a pelvic mass

Teresa never had any other gynaecological problems

TOXAEMIA OF PREGNANCY DUE TO VERY HIGH CHOLESTEROL LEVELS

Judi was one of my young primigravid mothers. She was 26 years of age a school teacher with a BMI of 27. Her blood pressure on her first visit was normal 120/70. At this stage she was very well, and all the routine pregnancy tests were normal. The pregnancy progressed well until 36 weeks, when her blood pressure was ,140/ 90 which meant it was elevated, the urine was clear. The toxaemia of pregnancy is usually a disease of primigravid women causing high blood pressure, it also causes kidney problems and it can progress rapidly and can be dangerous to both the mother and baby. I advised her to go home and rest. When she came next day the blood pressure was slightly elevated further to 150/90 the urine was still normal. However I decided to induce her, and deliver her as that was my gut feeling. My gut feeling played an important role in my obstetric management. The same day I admitted her to the labour ward. I started the induction by rupturing her membranes, this was OK. liquor (Fluid around the baby when in utero) was clear there were no signs of foetal distress. Luckily the induction of labour is generally easy in women with toxaemia of pregnancy.

However my joy was short lived. When I put in an intravenous needle, the fluid that came out was like milk.

I rang my pathologist he said she must have very high cholesterol. I sent the fluid which was really blood to pathology; her cholesterol came out to be 58mmols/ litre. This is extremely high. Normal cholesterol levels are around 6mmol/litre. During pregnancy the cholesterol levels do rise from the start but more so in the last trimester. This can cause toxaemia of pregnancy. She later told me that her mother suffers from high cholesterol but she had had no such problems. Normally cholesterol is not tested during pregnancy, but some research is being done to see if it should be tested. I started Judi on Syntocinon drip. This is a drug used to enhance labour. Luckily for Judi and me, Judi had an easy and quick labour and delivered a healthy male baby weighing 3620 Gms within 6 hours of induction. She did not what to breast feed. Within 6 weeks of delivery her cholesterol level came down to 28mmols/L. After this experience with Judi, I tested the cholesterol levels of all my toxaemia patients, but never found a high cholesterol level. I referred Judi to a physician and he kept her on a low dosage of anti-cholesterol drugs. I advised her to use condoms for contraception as she wanted another baby.  In just under two years she got pregnant again and her cholesterol levels started to rise. The physician very carefully supervised her cholesterol levels. At about 37 seven weeks her cholesterol came up to 28.4. I induced her again; she had a successful delivery of a healthy female baby 2870 gms in weight. After this she stayed on cholesterol tablets, I wonder if she followed her mother’s pattern. She cannot be given the pill for contraception, because the pill will cause her cholesterol to go up. I fitted her with Mirena for contraception. I followed her for few years, I found her to be very happy.

POST MENOPAUSAL PREGNANCY

OLDEST MOTHER WHO I HAVE EVER DELIVERED
AGE 55; IT WAS A GREAT JOY
Sumitra came to the outpatient department of obstetrics very quietly thinking she may be pregnant. She said she can feel something moving in her belly. She had had no periods for ten years; she was now 54 years of age. This was in 1960 when I was still a junior doctor. She had 3 grown up daughters and 4 grand children. She had no sons. She was mildly obese weighing 70 kilos. Her blood pressure was normal, she had no medical problems. On my clinical examination she was surely pregnant, I could hear the foetal heart .Of course there were no ultrasounds or genetic tests. I informed my professor about her. The only important thing about her was that she was the wife of a Member of Parliament. Her pregnancy progressed like a dream and she had an easy normal vaginal birth of a male healthy baby weighing 3 kilos. There was joy all round as they had no sons. Even I got a lovely sari as a present. It was a great joy for me as well. Many cases of spontaneous births have been reported after menopause, one in 1899 and then one in 1960. Both these women were 50 years of age. In recent times many older women have given birth through I.V .F technology. Latest birth is reported from India to a 70 year woman using donor egg, and using her 72 year old husband’s sperm in 2008. How old is too old to have a baby. Who will look after this baby?

VERY YOUNG MOTHERS

I am not sure if I should call them young women or girls, so I decided to call them young mothers. There were 2 such mothers one was 13 yrs old, who I delivered in 1961, and the other was 12 years who I delivered in a western country in 1965.

The 13 year girl was a very sweet and innocent girl, who has not yet had her first period. I do not know if she knew anything about period’s and where did baby’s came from. Her Mum and Dad had to go interstate to attend a wedding so they left her alone at home with a 16 year male cousin for four days. During the time they were away, the teenagers must have explored sexual experiments. Nothing happened after that. Suddenly nine months after that she was in labour, her mother realised what was going on. On a very hot summer day they (her parents) rugged her in a big thick blanket and brought her to the hospital. I was surprised that nobody noticed anything for all these nine months. I had come across a similar incidence in Dorset, UK when two teenage sisters were trying to protect each other, the younger sister had a baby, who was flushed down the toilet, I was called on a flying squad when the placenta did not come out and the young girl was bleeding. It was in the country, they had no electricity and no running water. Will I ever forget this day? Luckily, I had water, a big light an anethesist, and blood for transfusion. I removed the placenta, gave her a blood transfusion, put a few sutures into her torn outside and saved her life. In This case her mother was never aware that all this was going on.

Now going back to my original 13 year old, I delivered her easily, with tender loving care without stressing her. She had an episiotomy which was sutured. In our college the rule was that couples who are waiting for adoption can be invited for it, after bringing to the attention of the mother, the two can meet outside the hospital gate and do the exchange. We had no legal involvement in this. I told her mother, if anybody asks her what happened to her daughter just tell them she had a cyst on the ovary.  By doing all this I hope I a saved a lot of trauma for a young innocent girl.

The second teenage mother was only 12. She was very mature looking. The school had gone on a picnic with many boys and girls. The little girl called Debbie also had never had a period as yet but she had had some sex education at the school. They played during the picnic as a group not one on one. Debbie started to be very ill after the picnic and they found out that she was four months pregnant, this fitted with the date of the picnic. Nobody could work out who the father was. Later on during pregnancy she became very ill with toxaemia of pregnancy. She had to be in hospital for a week. We successfully induced her at 37 weeks; a male baby weighing 7 pounds 2 ounces was born in good condition, both the mother and baby did well, there were as far as I know, no legal issues. Debbie was their only child and her mother was very happy to look after her grandson. 

MUCINOUS OVARIAN CYST

VERY LARGE OVARIAN CYST- FIFTYEIGHT LBS

BENIGN MUCINOUS CYSTADENOMA.

Deena a thirty two year old very emaciated women came to our medical college from another state about 400 hundred miles away by train and then the three wheeler from the station. She was unable to get any treatment in her state. I wonder how she travelled. She was told that this tumour had become too big, and if they did anything she would die. Her family had heard of this new medical school. Therefore   she was brought to our very new medical college. This was in 1962, the college was very new. There were two lecturers, myself, who had just done her master of surgery after three years of graduation, which we could do after 3years, in those days, and another lecturer who was two years senior to me.

Deena came on my outpatient’s day so I took charge of her. Deena was young, skin and bones except for this very large ovarian cyst. It had been growing for the last six years. First the family thought that she was pregnant. She had had a baby six years ago when no baby arrived they started to get concerned.  There was no one to take her to the hospital.  Her husband was in the army and could not get leave. Any way when she saw me, she begged me to save her life for her son.

She had this very large ovarian cyst, and her total weight was 86kg I believe the cyst was about 50kgms. Her breathing was very shallow. A chest x-ray showed small lung capacity but, they were clear. Her Haemoglobin was 8 which was not too bad and her urine was clear. Ultrasound was not known in those days. I decided to operate on her.  I had to take consent from her and her family that if she died during the operation I would not be held responsible. I spoke the same language as Deena so I was able to explain everything to her in detail and reassure her.  My anaesthetist refused to anesthetise her, but he promised to be in theatre with me. It was difficult to put her straight on the table . We kept her upper body slightly raised. I gave her a local anaesthesia along the length of the cyst about 6cm long and made a tiny cut. It was great to notice that the cyst was multi loculated. Extremely carefully I aspirated hundreds of cysts so that they did not leak .After I had removed about thirty pounds of fluid from her cyst my anaesthetist was happy to anaesthetise her and relax her. I was able to put my hand in and feel around the cyst .The cyst was arising from the left ovary and was mobile. The ovary was totally gone the left tube was also destroyed. I put a catheter in her urinary bladder to protect it, and  extended the incision from just above the umbilicus to the pubic bone,  sealed or closed all the punctures I had made, and then very carefully removed the tumour with the tube ,of course the ovary was all incorporated in it. The right ovary and tube was normal. I made sure there was no spill. The weight of the remaining cyst was 28 ILBS. So the total weight of this cyst was 58 LBS. This meant that Deena weight was only 26 LBS, as the total weight preoperatively 86 LBS. I was very happy that the operation went very well. But then I had a big problem, how to close the belly. I had such large amount of Skin freely floating after being stretched for so long. I double breasted the muscles and the sheaths, cut the superfluous skin and stitched it in two layers. The sutures were removed after ten days. I kept the patient in hospital for two weeks to nourish her. The biopsy on the cyst confirmed it to be gigantic cyst adenoma without any evidence of malignancy.  Deena came to see me at three and six months. She was very well happy and grateful.

I earned a big name in town .Our photos were in the local papers.

Benign mucinous cyst adenomas of the ovary are common. They make up for 20 -25 % of all benign ovarian tumours occurring in 30 - 50 year old age group and they can, often be cancerous. Mucin is a protein produced by the epithelial cells of the baby, other organs such as pancreas; appendix and fingers can have this type of cyst. If ovarian mucinous cyst rupture they can cause mucinous deposits which can become a major problem .I have removed 100’s of mucinous ovarian cysts but never as big as this one.I have also seen an ovarian tumour in 1961 when a mucinous ovarian cyst must have ruptured, her abdominal cavity was full of mucinous cysts. We could not do anything for her. I wondered if they were cancerous as well.  My professor closed her without doing anything; she passed away a few days later.