Disease Specific Information

Type 1 Diabetes [ Insulin Dependent Mellitus ]

Diabetes mellitus, commonly just called diabetes, is a disease in which the body cannot process or use the energy-giving nutrients in foods. During digestion, food is broken down into basic components, such as fats, amino acids from proteins, and simple sugars from carbohydrates. All of these nutrients can be processed by the liver into one type of simple sugar, glucose, which then enters the bloodstream.

Type 2 Diabetes [ Non-Insulin Dependent Mellitus ]

Type 2 Diabetes is a metabolic disorder resulting from the body's inability to produce enough, or to properly use, insulin. It has previously been called non-insulin-dependent diabetes mellitus (NIDDM) or adult onset diabetes. Type 2 diabetes is the most common type of diabetes, accounting for 90 to 95 percent of diabetes cases.

Panhypopituitarism

Hypopituitarism, also called an underactive pituitary gland, is a condition that affects the anterior (front) lobe of the pituitary gland - usually resulting in a partial or complete loss of functioning of that lobe.

Septo-Optic Dysplasia [SOD/ De Morsier’s Syndrome]

Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital malformation syndrome manifested by hypoplasia (underdevelopment) of the optic nerve, hypopituitarism, and absence of the septum pellucidum (a midline part of the brain).

Growth Hormone Deficiency [Pituitary Dwarfism]

One cause of children's growth failure is Growth Hormone Deficiency. Growth hormone is secreted by the pituitary and is one of a number of hormones affecting a child's growth. A growth hormone deficient child usually shows a growth pattern of less than 2 inches a year.

Idiopathic Short Stature (ISS)

Idiopathic Short Stature (also known as ISS) is a diagnosis used for children who are short with no known cause. Idiopathic Short Stature is a problem that can be present in both girls and boys. Many causes of short stature have been discovered over the past few years, but there are still factors that are not yet understood. ISS falls into to this latter category.

Russell-Silver Syndrome

Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight (small for gestational age – SGA) and often fail to grow and gain weight at the expected rate (failure to thrive).

Prader-Willi Syndrome (PWS)

Prader-Willi syndrome is a complex non-hereditary birth defect resulting from an abnormality on the 15th chromosome. It occurs in males and females equally and in all races. PWS typically causes low muscle tone, short stature (if not treated with growth hormone), and incomplete sexual development.

Turner Syndrome

Turner syndrome (TS) is a medical disorder that affects about 1 in every 2,500 girls. Although researchers don't know exactly what causes Turner syndrome, they do know that it's the result of a problem with a girl's chromosomes . Most girls are born with two X chromosomes, but girls with Turner syndrome are either born with only one X chromosome, or they are missing part of one X chromosome.

Down Syndrome (Trisomy 21)

Down syndrome is a genetic condition that causes delays in physical and intellectual development. It occurs in approximately one in every 800 live births. Individuals with Down syndrome have 47 chromosomes instead of the usual 46 due to an extra chromosome 21 (trisomy 21). It is the most frequently occurring chromosomal disorder.

McCune-Albright Syndrome

McCune-Albright syndrome is a disease that affects the bones, skin, and endocrine (hormone) system. It results from a change (or mutation) in a gene that occurs by chance in the womb. Because it occurs by chance, it is not inherited and passed down from one generation to the next.

Precocious Puberty

Puberty is the time in life when the body changes from that of a child to an adult. It includes rapid growth of bones and muscles, changes in body shape and size, and development of your body's ability to reproduce.

Delayed Puberty

Puberty is said to be delayed when typical changes do not appear by age 13 for girls and age 14 for boys. Delayed puberty can be hereditary; the late onset of puberty may run in the families. However, delayed puberty may also be due to chromosomal abnormalities, genetic disorders, chronic illnesses, or tumors that damage the pituitary gland or the hypothalamus, which affect maturation.

Congenital Adrenal Hyperplasia (CAH)

In CAH, the child is born with overgrown adrenal glands. The adrenal glands of babies with CAH are unable to make enough cortisol, which is the principal adrenal gland hormone. In an effort to make enough cortisol, the adrenal gland enlarges, or overgrows.

Diabetes Insipidus

Diabetes Insipidus (DI) is a disorder in which there is an abnormal increase in urine output, fluid intake and often thirst. It causes symptoms such as urinary frequency, nocturia (frequent awakening at night to urinate) or enuresis (involuntary urination during sleep or "bedwetting"). Urine output is increased because it is not concentrated normally.

Hypothyroidism

Hypothyroidism is a term used when someone has a lower than normal level of thyroid hormone in their body, or an underactive thyroid gland. Hypothyroidism can develop at any point in the lifespan. Infants can be born with hypothyroidism, and hypothyroidism can develop in children and adults of any age.

Graves’s Disease/Hyperthyroidism

Hyperthyroidism is the condition that results when too much thyroid hormone is in the bloodstream. Thyroid hormone is produced in the thyroid gland, which is a small, butterfly-shaped gland that lies just under the Adam's apple in the neck.

Addison’s Disease [Adrenal Insufficiency; Hypocortisolism]

Addison's disease is an endocrine (hormonal) disorder that occurs in all age groups and afflicts males and females equally. The disease is characterized by weight loss, muscle weakness, fatigue, low blood pressure, and sometimes darkening of the skin in both exposed and non-exposed parts of the body.

Cushing’s Syndrome

Cushing’s syndrome is a hormonal disorder caused by prolonged exposure of the body’s tissues to high levels of the hormone cortisol. Sometimes called hypercortisolism, Cushing’s syndrome is relatively rare and most commonly affects adults aged 20 to 50.