Turner Syndrome, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
By Kenneth Kee
()
About this ebook
Turner Syndrome is an inherited disorder of the sex chromosome in which one of the X chromosomes is missing (XO)
It happens only in females and is linked with amenorrhea and infertility.
Turner syndrome is a rare genetic disorder.
Turner syndrome can be also described as loss or abnormality of the father’s X chromosome in at least one cell line in a phenotypic female.
In most affected girls, the normal X chromosome is maternal in origin.
Evident physical signs (e.g., neck webbing) involve only about 20% of girls with Turner syndrome
Many girls with Turner syndrome have few problems other than short stature and ovarian failure
Short stature or a poor growth rate can be the first manifestation of Turner syndrome
Turner syndrome should be investigated in any girl with short stature or primary amenorrhea.
Practically all affected women are infertile but some are able to conceive with assisted reproduction
Turner syndrome is linked with a higher risk of:
1. Congenital heart defects,
2. Congenital lymphedema,
3. Renal malformations,
4. Hearing loss (conductive or sensorineural),
5. Osteoporosis,
6. Obesity,
7. Diabetes and
8. An atherogenic lipid profile.
Intelligence is normal but there may be disorders of nonverbal, social and psychomotor skills.
Cause:
It is an inherited disease produced by a missing X sex chromosome (XO) during cell division
In Turner syndrome, the cells have lost all or part of an X chromosome.
The disorder only happens in females.
Most often, a female with Turner syndrome has only 1 X chromosome.
Others may have 2 X chromosomes, but one of them is not complete.
Occasionally, a female has some cells with 2 X chromosomes but other cells have only 1.
Symptoms:
1. Short stature females
2. Distinct facial features with small jaws, ptosis, low set ears and short neck
3. Broad shield like chest with small nipples
4. Lymphedema of extremities frequent sign in newborns
5. Amenorrhea and infertility
6. Short fourth metacarpals
7. Wide carrying angle of arm
8. Autoimmune thyroid disease
9. Abnormal organs -horseshoe kidneys
10. Heart disorders like co-arctation of aorta and bicuspid aortic valves
There is a higher incidence of autoimmune disorders, mainly:
1. Autoimmune thyroid disease (both Hashimoto's thyroiditis and Graves' disease),
2. Celiac disease,
3. Inflammatory bowel disease,
4. Alopecia areata and
5. Type 1 diabetes mellitus.
Diagnosis of Turner Syndrome is often based on:
1. Medical examination of appearance
2. Buccal smear for cells to test for chromosomes (seldom done now)
3. Karyotyping (test to examine number and type of chromosomes in a sample of cells)
4. Blood test for estrogen (low), follicle stimulating hormone (raised), luteinizing hormones (raised or normal)
5. Thyroid level may be low
Blood TSH is high
6. X-rays for cardiac and urinary abnormalities
Treatment
Turner syndrome is clearly a lifelong disorder and, even though most patients are healthy, they are vulnerable to a number of chronic disorders.
Disorders revolve around growth, puberty, fertility and general health.
Short stature is managed in early childhood with growth hormone therapy.
Estrogen and other hormones are often begun when the girl is 12 or 13 years old.
These help stimulate the growth of breasts, pubic hair, other sexual features, and growth in height.
Estrogen therapy is given through out life until the age of menopause.
Fertility may be obtained with oocyte donation, and gamete or embryo transplant.
Women with Turner syndrome who wish to become pregnant may think about using a donor egg.
Turner syndrome women need care for:
a. Keloid formation
b. Hearing loss
c. High blood pressure
d. Diabetes
e. Thinning of the bones
TABLE OF CONTENT
Introduction
Ch
Kenneth Kee
Medical doctor since 1972. Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009. Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993. Dr Kenneth Kee is still working as a family doctor at the age of 70. However he has reduced his consultation hours to 3 hours in the morning and 2 hours in the afternoon. He first started writing free blogs on medical disorders seen in the clinic in 2007 on http://kennethkee.blogspot.com. His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.com This autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com. From which many free articles from the blog was taken and put together into 1000 eBooks. He apologized for typos and spelling mistakes in his earlier books. He will endeavor to improve the writing in futures. Some people have complained that the simple guides are too simple. For their information they are made simple in order to educate the patients. The later books go into more details of medical disorders. He has published 1000 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter. The purpose of these simple guides is to educate patient on health disorders and not meant as textbooks. He does not do any night duty since 2000 ever since Dr Tan had his second stroke. His clinic is now relocated to the Buona Vista Community Centre. The 2 units of his original clinic are being demolished to make way for a new Shopping Mall. He is now doing some blogging and internet surfing (bulletin boards since the 1980's) starting with the Apple computer and going to PC. The entire PC is upgraded by himself from XT to the present Pentium duo core. The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive. He is also into DIY changing his own toilet cistern and other electric appliance. His hunger for knowledge has not abated and he is a lifelong learner. The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned. This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale. Dr Kee is the author of: "A Family Doctor's Tale" "Life Lessons Learned From The Study And Practice Of Medicine" "Case Notes From A Family Doctor"
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Turner Syndrome, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions - Kenneth Kee
Turner Syndrome,
A
Simple
Guide
To
The Condition,
Diagnosis,
Treatment
And
Related Conditions
By
Dr Kenneth Kee
M.B.,B.S. (Singapore)
Ph.D (Healthcare Administration)
Copyright Kenneth Kee 2017 Smashwords Edition
Published by Kenneth Kee at Smashwords.com
Dedication
This book is dedicated
To my wife Dorothy
And my children
Carolyn, Grace
And Kelvin
This book describes Turner Syndrome, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.
(What You Need to Treat Turner Syndrome)
This eBook is licensed for the personal enjoyment only. This eBook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each reader.
If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy.
Thank you for respecting the hard work of this author.
Introduction
I have been writing medical articles for my blog http://kennethkee.blogspot.com (A Simple Guide to Medical Condition) for the benefit of my patients since 2007.
My purpose in writing these simple guides was for the health education of my patients.
Health Education was also my dissertation for my Ph.D (Healthcare Administration).
I then wrote an autobiolographical account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.com.
This autobiolographical account A Family Doctor’s Tale
was combined with my early A Simple Guide to Medical Conditions
into a new Wordpress Blog A Family Doctor’s Tale
on http://kenkee481.wordpress.com.
From which many free articles from the blog was taken and put together into 800 amazon kindle books and 200 into Smashwords.com eBooks.
Some people have complained that the simple guides are too simple.
For their information they are made simple in order to educate the patients.
The later books go into more details of medical conditions.
The first chapter is always from my earlier blogs which unfortunately tends to have typos and spelling mistakes.
Since 2013, I have tried to improve my spelling and writing.
As I tried to bring you the latest information about a condition or illness by reading the latest journals both online and offline, I find that I am learning more and improving on my own medical knowledge in diagnosis and treatment for my patients.
Just by writing all these simple guides I find that I have learned a lot from your reviews (good or bad), criticism and advice.
I am sorry for the repetitions in these simple guides as the second chapters onwards have new information as compared to my first chapter taken from my blog.
I also find repetition definitely help me and maybe some readers to remember the facts in the books more easily.
I apologize if these repetitions are irritating to some readers.
Chapter 1
Turner Syndrome
What is Turner Syndrome?
Turner Syndrome is an inherited disorder of the sex chromosome in which one of the X chromosomes is missing (XO)
It happens only in females and is linked with amenorrhea and infertility.
Turner syndrome is a rare genetic disorder.
Turner syndrome can be also described as loss or abnormality of the father’s X chromosome in at least one cell line in a phenotypic female.
In most affected girls, the normal X chromosome is maternal in origin.
Evident physical signs (e.g., neck webbing) involve only about 20% of girls with Turner syndrome
Many girls with Turner syndrome have few problems other than short stature and ovarian failure
Short stature or a poor growth rate can be the first manifestation of Turner syndrome
Turner syndrome should be investigated in any girl