Kenneth Kee

Turner Syndrome, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions (eBook, ePUB)

• Format: ePub

Produktbeschreibung

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
Introduct...

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Produktdetails

• Verlag: Kenneth Kee
• Erscheinungstermin: 24. April 2017
• Englisch
• ISBN-13: 9781370500420
• Artikelnr.: 48182386

Autorenporträt

Dr. Kenneth Kee is a well-known medical doctor from Singapore who has been practicing medicine since 1972.
He graduated from the University of Singapore and furthered his studies with a Master of Science in Health Management in 1991, followed by a Ph.D. in Healthcare Administration in 1993.
Dr. Kee established Kee Clinic in 1974, located in the Holland Drive area of Singapore. The clinic has been a prominent feature of the community, offering general medical services for 5 decades.
Dr Kee also served his country Singapore as a national service police Inspector at night from 1975 to 1985 while working at his clinic during the day.
He had served as a police guard to the Woodland Petroleum Tanks at night during the Indonesian Confrontation period, took part in police rounds at night in the Beach Road area and taught First aid and emergency resuscitation to Police recruits.
He received the Singapore Police Bicentennial 2020 Medallion on 1st March 2024 as recognition for his work in the Singapore Police.
Even as he grew older, Dr. Kee continued to work actively in his clinic, although he eventually reduced his consultation hours.
Beyond his medical career, Dr. Kee is also an author.
He started writing about medical conditions in 2007, using blogs and other online platforms to share his knowledge with a broader audience.
Over time, he published various books, many of which provide simple and accessible guides to different health conditions.
His works include "A Family Doctor's Tale," "My Personal Singapore History," and numerous medical guides, available through platforms like Amazon.
His books often combine his personal experiences as a family doctor with insights into Singapore's healthcare system and history.
Dr. Kee has written extensively on health topics, contributing to both medical literature and general knowledge resources.

Dr. Kenneth Kee has written numerous books, primarily focused on health education and personal experiences as a family doctor. Some of his notable titles include:
"A Family Doctor's Tale"
This book is a blend of Dr. Kee's personal experiences and his reflections on being a family doctor in Singapore. It's a great choice if you're looking for a narrative that combines both medical knowledge and human stories.
"Specialized Medical Conditions"
Books like **"Congestive Heart Failure: Diagnosis and Treatment"** focus on specific conditions, offering in-dept...