This document discusses several major endocrinopathies that can affect children, including diabetes mellitus types 1 and 2, hypothyroidism, hyperthyroidism, short stature, disorders of puberty, congenital adrenal hyperplasia, Turner syndrome, and calcium disorders. It provides overview information and details on symptoms, causes, testing/diagnosis, and treatment for each condition. Major sections are devoted to further explaining diabetes mellitus types 1 and 2, hypothyroidism, hyperthyroidism, short stature, precocious puberty, and Turner syndrome.

1. By;
Dr. Dushmanta Meher
4th course; 8th group
2018-2019
Asian Medical Institute
Kant, Kyrgyzstan

2. INTRODUCTION
• Hormones are chemicals that affect how other parts of the body work.
For example, hormones decide how a child grows and matures.
Endocrine glands, such as the pituitary gland, release hormones into the
bloodstream. Endocrinology is the science that studies these glands and
the effects of the hormones.
• Children are not just small adults. As growing individuals they have
special needs related to growth and development. In addition, their
psychological needs are different from those of adults. Hormone
problems affecting growth or sexual development can have significant
effects on a child’s physical and emotional well-being.

3. MAJOR ENDOCRINOPATHIES
1. Diabetes mellitus, Type 1 and Type 2
2. Hypothyroidism
3. Hyperthyroidism
4. Short stature
5. Disorders of puberty (including precocious puberty and delayed puberty)
6. Congenital Adrenal Hyperplasia (CAH)
7. Turner Syndrome
8. Calcium disorders (including Hypercalcemia, Hypocalcemia, Juvenile
Osteoporosis)

4. DIABETES MELLITUS, TYPE 1
Overview
Type 1 diabetes in children is a condition in which your child's body no longer produces
an important hormone (insulin). Your child needs insulin to survive, so you'll have to
replace the missing insulin. Type 1 diabetes in children used to be known as juvenile
diabetes or insulin-dependent diabetes.
Symotoms
Increased thirst and frequent urination
Extreme hunger
Weight loss
Fatigue
Irritability or behavior changes
Fruity smell breathe
Blurred vison
Yeast infection

5. Risk factors
Family history
Genetic susceptibility
Race
Complications
Heart and blood vessels disease
Nerve damage
Kidney damage
Eye damage
Skin conditions
Osteoporosis
Prevention
There is currently no known way to prevent type 1 diabetes

6. Diagnosis
Random blood sugar test
Glycated hemoglobin (A1C) test
Fasting blood sugar test
Treatment
Insulin and other medications
Healthy eating
Physical activity
Flexibility
Prevention
Eat healthy food
Get more physical activity
Home

7. DIABETES MELLITUS, TYPE 2
Overview
 Type 2 diabetes in children is a chronic disease that affects the way your child's body
processes sugar (glucose). It's important to manage your child's diabetes because its long-
term consequences can be disabling or even life-threatening.
Symptoms
 Increased thirst and frequent urination.
 Weight loss
 Fatigue
 Blurred vision
 Slow healing sores or frequent infection
Causes
 The exact cause of type 2 diabetes is unknown. But family history and genetics appear to
play an important role. Inactivity and excess fat — especially abdominal fat — also seem to
be important factors.

8. Risk factors
• Weight
• Inactivity
• Family history
• Race
• Age and sex
• Birth age and gestational diabetes
Complications
• High blood pressure
• High cholesterol
• Heart and blood vessel disease
• Stroke
• Nonalcoholic fatty liver disease
• Kidney disease
• Blindness
• Amputation
• Certain skin conditions

9. Diagnosis
Random blood sugar test
Glycated hemoglobin (A1C) test
Fasting blood sugar test
Treatment
Insulin and other medications
Healthy eating
Physical activity
Flexibility
Prevention
Eat healthy food
Get more physical activity
Home

10. HYPOTHYROIDISM
• Hypothyroidism is a common endocrine disorder in which your child’s thyroid gland does not
produce enough thyroid hormone. A child with an underactive thyroid may experience fatigue,
weight gain, constipation, decreased growth, and a host of other issues
Types of hypothyroidism
Congenital hypothyroidism
Congenital hypothyroidism (CH) occurs when the thyroid gland does not develop or
function normally prior to birth.
Autoimmune hypothyroidism: chronic lymphocytic thyroiditis
Acquired hypothyroidism is most frequently caused by an autoimmune disorder called
chronic lymphocytic thyroiditis (CLT). In this disorder your child’s immune system attacks
the thyroid gland, leading to damage and decreased function.
Iatrogenic hypothyroidism
Iatrogenic hypothyroidism is a form of acquired hypothyroidism that occurs in children who
have had their thyroid gland medically ablated (destroyed) or surgically removed.
Central hypothyroidism
Central hypothyroidism occurs when the brain does not make thyroid-stimulating hormone
(TSH), the signal that tells the thyroid gland to work.

11. Symptoms may include:
Fatigue and/or exercise intolerance
Slower reaction time (an important issue for drivers)
Weight gain
Constipation
Coarse, dry and thickened skin
Slow pulse
Cold intolerance
Muscle cramps
Sides of eyebrows thin or fall out
Dull facial expression
Hoarse voice
Slow speech
Droopy eyelids
Puffy and swollen face
Enlarged thyroid, producing a goiter-like growth on the neck
Increased menstrual flow and cramping in girls and young women

12. Testing and diagnosis
Thyroid function screening,
Anti-thyroid antibody level studies.
Thyroid ultrasound
Nuclear medicine uptake and scan
Treatment for hypothyroidism
In most cases, hypothyroidism can be treated with thyroid hormone replacement pills
(levothyroxine). Levothyroxine is chemically identical to thyroxine (T4), which occurs
naturally in our bodies, and replenishes your child’s thyroid hormone levels to normal as
long as it is taken as prescribed. The pills can be given to patients of all ages, from
newborn to adult.
Uncommonly, patients may benefit from using both levothyroxine (T4) and liothyronine
(T3).
Outcomes for hypothyroidism
The majority of children with hypothyroidism — who are compliant with their medication
can achieve normal growth and development. Thyroid hormone replacement is weight-
Home

13. HYPERTHYROIDISM
Hyperthyroidism (overactive thyroid) is a condition in which your child’s thyroid gland
makes too much thyroid hormone. The over-secretion of thyroid hormone leads to over-
activity of your child’s metabolism and can cause weight loss, a rapid or irregular
heartbeat, sweating, nervousness, irritability, anxiety and decreased school performance.
Types of hyperthyroidism
Graves’ disease
Graves’ disease occurs when your child’s immune system develops antibodies that attach
to the thyroid cells, causing them to produce more thyroid hormone. The antibody called
thyroid-stimulating immunoglobulin (TSI) binds to the thyroid-stimulating hormone (TSH)
receptor and causes unregulated stimulation of thyroid hormone.
Hyperfunctioning thyroid nodules
Hyperfunctioning thyroid nodules are another form of hyperthyroidism. They occur when
one or more benign growths in your child’s thyroid produce too much thyroid hormone.
The majority of hyperfunctioning nodules are benign (not cancerous).
Thyroiditis
 a condition that occurs when your child’s thyroid gland becomes inflamed and causes
excess thyroid hormone to leak into the bloodstream.

14. Thyroid storm
Children with this condition have extremely high levels of thyroid hormone that can
cause high fever, dehydration, diarrhea, rapid and irregular heart rate, shock and
even death.
Symptoms of hyperthyroidism may include:
Enlarged thyroid (called a goiter)
Increased heart rate or feeling the heart is "racing"
Increased blood pressure
Slight tremor
Lighter and less frequent menstrual cycle for teens and young women
Mood changes such as anxiety, irritability and nervousness
Increased activity, fidgetiness, hyperactivity, restlessness
Poor, restless sleep, Fatigue
Increased appetite — with or without weight loss
Increased number of bowel movements per day
Heat intolerance (always feeling warm)
Decreased or poor school performance
Difficulty concentrating; may be diagnosed with "late-onset" attention deficit
disorder

15. Causes of hyperthyroidism
The vast majority of hyperthyroidism cases are caused by Graves’ disease (autoimmune
hyperthyroidism). Graves’ disease affects 1 in 10,000 children in the U.S.
Hyperthyroidism can also be caused by an autonomous nodule (a nodule functioning on its
own), and by a non-immune inflammation, such as a viral or bacterial infection.
Testing and diagnosis
Thyroid function screening
Thyroid ultrasound
Nuclear medicine uptake and scan
Fine-needle aspiration,
Treatment
Anti-thyroid medication
Radioactive iodine ablation
Total thyroidectomy (surgical removal of the thyroid) or lobectomy (removal of half of the
thyroid gland)

16.  A child who has short stature is much shorter than children who are the same age and sex.
A child with short stature's height is:
 Two standard deviations (SD) or more below the average height for children of the same sex and
age
 Below the 2.3rd percentile on the growth chart: Out of 1,000 boys (or girls) who were born on the
same day, 977 of the children are taller than your son or daughter
Causes
 child may be small for her age, but is growing OK. She will probably start puberty later than her
friends. Your child will most likely keep growing after most of her peers have stopped growing,
and will probably be as tall as her parents. Providers call this "constitutional growth delay."
 If one or both parents are short, your child will most likely also be short. Your child should get as
tall as one of her parents.
Short stature may be a symptom of a medical condition.
Bone or skeletal disorders, such as:
 Rickets
SHORT STATURE

17. Long-term (chronic) diseases, such as:
• Asthma
• Celiac disease
• Congenital heart disease
• Cushing disease
• Diabetes
• Hypothyroidism
• Inflammatory bowel disease
• Juvenile rheumatoid arthritis
• Kidney disease
• Sickle cell anemia
• Thalassemia
Genetic conditions, such as:
• Down syndrome
• Noonan syndrome
• Russell-Silver syndrome
• Turner syndrome
• Williams syndrome
Other reasons include:
• Growth hormone deficiency
• Infections of the developing baby before birth
• Malnutrition
• Poor growth of a baby while in the womb
(intrauterine growth restriction) gestational age
Diagnostic tests
 Complete blood count
 Growth hormone stimulation
 Thyroid function tests
 Insulin growth factor-1 (IGF-1) level
 Blood tests to look for liver, kidney, thyroid, immune system, and other medical problems

18. Treatment
Pediatric hormone treatment: In children who produce too little GH, a daily injection of
hormone treatment may stimulate physical growth later in life. Medications, such as
somatropin, may eventually add 4 inches, or 10 centimeters, to adult height.
Complications
 arthritis later in life
 delayed mobility development
 dental problems
 bowed legs
 hearing problems and otitis media
 hydrocephalus, or too much fluid in the brain cavities
 hunching of the back
 limb problems
 swaying of the back
 narrowing of the channel in the lower spine during adulthood and other spine problem
 sleep apnea
 weight gain
 speech and language problems Home

19. PRECOCIOUS PUBERTY
Precocious Puberty means having signs of puberty (e.g., pubic hair or breast/ testicular
enlargement) at an earlier age than usual (prior to age 8 in girls and age 9 in boys).
Causes
UNKNOWN
 Maybe abnormalities in
testies,ovaries,pituitary and adrenal
gland
Treatment
 medication (analog or modified form of GnRH) Home

20. CONGENITAL ADRENAL HYPERPLASIA
Congenital adrenal hyperplasia is the name given to a group of inherited disorders of
the adrenal gland.
Causes
People have 2 adrenal glands. One is located on top of each of their kidneys. These
glands make hormones, such as cortisol and aldosterone, that are essential for life.
People with congenital adrenal hyperplasia lack an enzyme the adrenal glands need to
make the hormones.
At the same time, the body produces more androgen, a type of male sex hormone.
This causes male characteristics to appear early (or inappropriately).

21. Symptoms
Symptoms will vary, depending on the type of congenital adrenal hyperplasia
someone has, and their age when the disorder is diagnosed.
Children with milder forms may not have signs or symptoms of congenital adrenal
hyperplasia and may not be diagnosed until as late as adolescence.
Girls with a more severe form often have abnormal genitals at birth and may be
diagnosed before symptoms appear.
Boys will appear normal at birth, even if they have a more severe form.
In children with the severe form of the disorder, symptoms often develop within 2 or 3
weeks
Poor feeding or vomiting
Dehydration
Electrolyte changes (abnormal levels of sodium and potassium in the blood)
Abnormal heart rhythm

22. In Girls
 Abnormal menstrual periods or failure to
menstruate
 Early appearance of pubic or armpit hair
 Excessive hair growth or facial hair
 Some enlargement of the clitoris
In Boys
 Deepening voice
 Early appearance of pubic or armpit hair
 Enlarged penis but normal testes
 Well-developed muscles
Exams and Tests
 Serum electrolytes
 Aldosterone
 Renin
 Cortisol
Treatment
 The goal of treatment is to return hormone levels to normal, or near normal. This is done by
taking a form of cortisol, most often hydrocortisone.
 The provider will determine the genetic sex of the baby with abnormal genitalia by
checking the chromosomes (karyotyping)
 Steroids used to treat congenital adrenal hyperplasia do not usually cause side effects such
as obesity or weak bones, because the doses replace the hormones that the child's
body cannot make Home

23. TURNER SYNDROME
 Turner syndrome is a rare genetic condition in which a female does not have the usual pair
of X chromosomes.
Causes
 In Turner syndrome, cells are missing all or part of an X chromosome. The condition only
occurs in females. Most commonly, a female with Turner syndrome has only 1 X
chromosome. Others may have 2 X chromosomes, but one of them is incomplete.
Sometimes, a female has some cells with 2 X chromosomes, but other cells have only 1.
 Ears are low-set.
 Neck appears wide or web-like.
 Roof of the mouth is narrow (high palate).
 Hairline at the back of the head is lower.
 Lower jaw is lower and appears to fade
away (recede).
 Drooping eyelids and dry eyes.
 Fingers and toes are short.
 Hands and feet are swollen in infants.
 Nails are narrow and turn upward.
 Chest is broad and flat. Nipples appear
more widely spaced.
 Height at birth is often smaller than
average.
Symptoms

25. Exams and Tests
It may be diagnosed before birth if:
A chromosome analysis is done during prenatal testing.
A cystic hygroma is a growth that often occurs in the head and neck area. This finding
may be seen on ultrasound during the pregnancy and leads to further testing.
The following tests may be performed:
 Blood hormone levels
 Echocardiogram
 Karyotyping
 MRI of the chest
 Ultrasound of reproductive organs and
kidneys
 Pelvic exam
Other tests that may be done periodically
include:
 Blood pressure screening
 Thyroid checks
 Blood tests for lipids and glucose
 Hearing screening
 Eye exam
 Bone density testing
Treatment
 Growth hormone may help a child with Turner syndrome grow taller.
 Estrogen and other hormones are often started when the girl is 12 or 13 years
old
Home
 A child with Turner syndrome is much shorter than children who are the same age
and sex. This is called short stature. This problem may not be noticed in girls
before age 11.

26. HYPERCALCEMIA
• Hypercalcemia means you have too much calcium in your blood.
• Causes
• The most common cause of high calcium blood level is excess PTH released by the
parathyroid glands. This excess occurs due to:
• An enlargement of one or more of the parathyroid glands.
• A growth on one of the glands. Most of the time, these growths are benign (not a
cancer).
• Symptoms
• Digestive symptoms, such as nausea or vomiting, poor appetite, or constipation
• Increased thirst or more frequent urination, due to changes in the kidneys
• Muscle weakness or twitches
• Changes in how your brain works, such as feeling tired or fatigued or confused
• Bone pain and fragile bones that break more easily

28. Exams and Tests
An accurate diagnosis is needed in hypercalcemia. People with kidney stones should
have tests to evaluate for hypercalcemia.
Serum calcium
Serum PTH
Serum PTHrP (PTH-related protein)
Serum vitamin D level
Urine calcium
Treatment
People with primary hyperparathyroidism (PHPT) may need surgery to remove the
abnormal parathyroid gland.
People with mild hypercalcemia may be able to monitor the condition closely over
time without treatment.
In women who are in menopause, treatment with estrogen can sometimes reverse mild
hypercalcemia.
Severe hypercalcemia that causes symptoms and requires a hospital stay
Home

29. That’s It