Grand Rounds:
Turner Syndrome Facts:
-it only affects girls and women
-results when the X chromosome is missing or partially missing.
-it can be diagnosed before birth.
-about 30% of females with this disease have extra folds of skin on their neck.
-it occurs in roughly 1 in every 2,500 newborn girls
-Turner syndrome affects 60,000 females in the U.S.
-it can not be inherited (in most cases)
-regular screenings can prevent most of these symptoms
-growth hormones can help girls gain height
-estrogen replacement can help to further develop sex organs
-girls with this disease can still have children through frequent fertility treatments
-although there is no cure, many treatments can minimize the symptoms
Turner Syndrome Symptoms:
-medical and developmental problems
-short height
-heart defects
-certain learning disabilities
-social adjustment problems
- mouth and jaw abnormalities
-swollen hands and feet at time of birth
-webbed neck
-kidney problems
-hypothyroidism
-ear and hearing problems
-eye and vision problems
-scoliosis
-osteoporosis
-obesity
-diabetes
-celiac disease
-headaches
-vomiting
-carpal tunnel syndrome
-insulin resistance/ high blood sugar
-worsening of scoliosis
Causes:
- One part or the whole of one of the two X chromosomes are missing
- Nothing come from the parents no way to prevent this from happening
Diagnosis:
- One can be diagnosed while still in the womb before birth
- If not caught then, it can be diagnosed by a blood test called a karyotype
- Usually occurs before puberty
Possible Cures:
-Since this disease is caused by a chromosomal abnormality, there’s no specific cure.
-A growth hormone treatment can improve growth and influence a girl’s final adult height.
Disease #1:
Claim: Type 1 Diabetes
Evidence/Reasoning for:
Needs medication- can't break down sugars
Fatigued- body becomes weak
Has had symptoms since birth- was born with it.
With type 1 diabetes, the body’s immune system attacks part of its own pancreas.
Disease #2:
Claim: Type 2 Diabetes
Evidence/Reasoning for:
Thirst- it's usually one of the first symptoms of diabetes.
Got it after birth- not hereditary
High blood sugar- your cells cannot use insulin to process blood sugar out of the blood, resulting in high blood sugar levels.
Cells need glucose as fuel to produce energy.
Without sugar that can be converted to energy, cells starve and glucose levels build up in the blood, which can lead to life-threatening complications such as cardiovascular disease.
Disease #3:
Claim: Cushing’s Disease
Evidence/Reasoning for:
Hypertension
Kidney stone
Glucose intolerant
Weight gain
High blood pressure
No medication
Symptoms: constantly happening .
Cushing’s syndrome is a condition that occurs when a person’s body tissues are exposed over time to too much of the hormone cortisol.
In Cushing’s syndrome the excessive cortisol disables metabolism of proteins and fats rather than increasing it.
Disease #4:
Claim: Grave’s Disease
Evidence/Reasoning for:
Graves' disease is caused by a malfunction in the body's disease-fighting immune system
It results in the overproduction of thyroid hormones
Bulging eyes
Breathing fast
Sweating
Menstrual cycle stopped
Grave’s disease, also known as toxic diffuse goiter, is the most common cause of hyperthyroidism in the U.S. Hyperthyroidism is a disorder that occurs when the thyroid gland makes more thyroid hormone than the body needs.
Disease #5:
Claim: Hypoparathyroidism
Evidence/Reasoning for:
Tingly fingers and toes
Fatigued
Mood swings
Headaches
No medications
Had throat surgery
Thyroid
Hyperparathyroidism is an excess of parathyroid hormone in the bloodstream due to overactivity of one or more of the body's four parathyroid glands.
Disease #6:
Claim: acromegaly
Evidence/Reasoning for:
-enlarged hands and feet
-It’s a hormonal disorder
-In acromegaly, the pituitary produces excessive amounts of GH. (growth hormone)
-Usually the excess GH comes from benign, or noncancerous, tumors on the pituitary. These benign tumors are called adenomas.
-it only affects girls and women
-results when the X chromosome is missing or partially missing.
-it can be diagnosed before birth.
-about 30% of females with this disease have extra folds of skin on their neck.
-it occurs in roughly 1 in every 2,500 newborn girls
-Turner syndrome affects 60,000 females in the U.S.
-it can not be inherited (in most cases)
-regular screenings can prevent most of these symptoms
-growth hormones can help girls gain height
-estrogen replacement can help to further develop sex organs
-girls with this disease can still have children through frequent fertility treatments
-although there is no cure, many treatments can minimize the symptoms
Turner Syndrome Symptoms:
-medical and developmental problems
-short height
-heart defects
-certain learning disabilities
-social adjustment problems
- mouth and jaw abnormalities
-swollen hands and feet at time of birth
-webbed neck
-kidney problems
-hypothyroidism
-ear and hearing problems
-eye and vision problems
-scoliosis
-osteoporosis
-obesity
-diabetes
-celiac disease
-headaches
-vomiting
-carpal tunnel syndrome
-insulin resistance/ high blood sugar
-worsening of scoliosis
Causes:
- One part or the whole of one of the two X chromosomes are missing
- Nothing come from the parents no way to prevent this from happening
Diagnosis:
- One can be diagnosed while still in the womb before birth
- If not caught then, it can be diagnosed by a blood test called a karyotype
- Usually occurs before puberty
Possible Cures:
-Since this disease is caused by a chromosomal abnormality, there’s no specific cure.
-A growth hormone treatment can improve growth and influence a girl’s final adult height.
Disease #1:
Claim: Type 1 Diabetes
Evidence/Reasoning for:
Needs medication- can't break down sugars
Fatigued- body becomes weak
Has had symptoms since birth- was born with it.
With type 1 diabetes, the body’s immune system attacks part of its own pancreas.
Disease #2:
Claim: Type 2 Diabetes
Evidence/Reasoning for:
Thirst- it's usually one of the first symptoms of diabetes.
Got it after birth- not hereditary
High blood sugar- your cells cannot use insulin to process blood sugar out of the blood, resulting in high blood sugar levels.
Cells need glucose as fuel to produce energy.
Without sugar that can be converted to energy, cells starve and glucose levels build up in the blood, which can lead to life-threatening complications such as cardiovascular disease.
Disease #3:
Claim: Cushing’s Disease
Evidence/Reasoning for:
Hypertension
Kidney stone
Glucose intolerant
Weight gain
High blood pressure
No medication
Symptoms: constantly happening .
Cushing’s syndrome is a condition that occurs when a person’s body tissues are exposed over time to too much of the hormone cortisol.
In Cushing’s syndrome the excessive cortisol disables metabolism of proteins and fats rather than increasing it.
Disease #4:
Claim: Grave’s Disease
Evidence/Reasoning for:
Graves' disease is caused by a malfunction in the body's disease-fighting immune system
It results in the overproduction of thyroid hormones
Bulging eyes
Breathing fast
Sweating
Menstrual cycle stopped
Grave’s disease, also known as toxic diffuse goiter, is the most common cause of hyperthyroidism in the U.S. Hyperthyroidism is a disorder that occurs when the thyroid gland makes more thyroid hormone than the body needs.
Disease #5:
Claim: Hypoparathyroidism
Evidence/Reasoning for:
Tingly fingers and toes
Fatigued
Mood swings
Headaches
No medications
Had throat surgery
Thyroid
Hyperparathyroidism is an excess of parathyroid hormone in the bloodstream due to overactivity of one or more of the body's four parathyroid glands.
Disease #6:
Claim: acromegaly
Evidence/Reasoning for:
-enlarged hands and feet
-It’s a hormonal disorder
-In acromegaly, the pituitary produces excessive amounts of GH. (growth hormone)
-Usually the excess GH comes from benign, or noncancerous, tumors on the pituitary. These benign tumors are called adenomas.