Pediatric Endocrinology

Overview:

Monogenic diabetes is a rare form of diabetes that accounts for 2-5% of all diabetes cases. It’s caused by a mutation in a single gene and typically involves the body’s inability to produce enough insulin, a hormone that helps the body use glucose (sugar) for energy. It can also stem from insulin resistance, but this is rare.

In most cases, monogenic diabetes is inherited from a parent with the same condition. It typically affects young people under the age of 25. Because monogenic diabetes can develop at different ages, it’s categorized into two types: maturity-onset diabetes of the young (MODY) and neonatal diabetes.

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Prediabetes is a condition in which the blood sugar level is higher than normal, but not high enough to receive a type 2 diabetes diagnosis. A normal blood sugar level, based on an A1C test (average over three months), is below 5.7% while a diabetic level would be 6.5% or higher. Therefore, a prediabetic sugar level would be between 5.7 and 6.4%. To learn more about prediabetes and sign up for upcoming courses, visit our Patient Education Programs.

Unsure if you’re at risk of developing prediabetes? Take the Diabetes Risk Test to find out and learn how you can lower your risk.

Overview:

Type 1 diabetes is a condition in which the immune system attacks and destroys insulin-producing cells in the body. Insulin is a natural hormone made by beta cells in the pancreas that helps regulate sugar (glucose), the primary energy source for the body. Type 1 diabetes is usually diagnosed in children, teens, or young adults.

Visit our Patient Education Programs for additional type 1 diabetes education information.

Overview:

Type 2 diabetes is the most common type of diabetes, often caused by lifestyle factors like obesity and a sedentary lifestyle. It usually begins when fat, muscle, and liver cells don't use insulin properly, a condition known as insulin resistance.

Insulin is a hormone that the pancreas naturally produces to control sugar (glucose) levels. With type 2 diabetes, the pancreas initially keeps up with the added demand by producing more insulin, but over time, it loses the ability to secrete enough insulin in response to meals. Type 2 diabetes can affect both children and adults.

Visit our Patient Education Programs for additional type 2 diabetes education information.

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Hypercalcemia is a condition where the amount of calcium in the blood is above normal levels. While calcium plays a vital role in functions like building strong bones, transmitting nerve signals, and helping muscles contract, having too much in the blood can lead to health problems.

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Hyperparathyroidism is a condition in which the parathyroid glands, pea-sized glands located at the bottom of the neck, create excessive amounts of parathyroid hormone (PTH) in the bloodstream. This condition can be categorized as primary or secondary hyperparathyroidism.

With primary hyperparathyroidism, the overproduction of PTH typically stems from a benign tumor (adenoma). With secondary hyperparathyroidism, it’s typically in response to chronic kidney disease, or low calcium or vitamin D levels.

Overview:

Hypoparathyroidism is a condition in which the parathyroid glands produce insufficient amounts of parathyroid hormone (PTH) or none at all. PTH is essential for regulating calcium, phosphate, and vitamin D levels in the body. When PTH is deficient, blood calcium drops, and phosphate rises.

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Neonatal hypocalcemia is a condition in which a newborn has low levels of calcium in the blood. Calcium is crucial for muscle function, nerve activity, and heart rhythm, so hypocalcemia can cause a range of symptoms, from mild to severe.

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Pseudohypoparathyroidism (PHP) is a rare inherited disorder in which the body becomes resistant to parathyroid hormone (PTH). In contrast to hypoparathyroidism (where PTH is low), people with PHP have normal or elevated PTH levels, but the hormone doesn't work properly, especially in the kidneys and bones.

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Rickets is a disorder in children that causes softening and weakening of the bones, typically due to deficiency or impaired metabolism of vitamin D, calcium, or phosphate. These nutrients are essential for healthy bone development and mineralization.

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Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands. These glands, located above the kidneys, are responsible for making cortisol, aldosterone, testosterone, and other hormones. CAH is categorized as nonclassic (milder and more common) and classic (rarer and more serious).

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Hypogonadism is a condition where the gonads (testes in boys, ovaries in girls) do not produce enough sex hormones — testosterone or estrogen — or fail to develop normally. This can lead to delayed or absent puberty, impaired growth, and reproductive issues.

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Congenital hypothyroidism is a condition present at birth in which the thyroid gland is absent, underdeveloped, or not functioning properly, causing low levels of thyroid hormones. These hormones are essential for normal brain development, growth, and metabolism, especially during infancy and early childhood.

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Delayed puberty is a condition where the hypothalamus or pituitary gland fails to produce enough luteinizing hormone and follicle-stimulating hormone. This can lead to insufficient sex hormone production and delayed or absent puberty.

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Growth hormone deficiency (GHD) is a condition in which the pituitary gland fails to produce enough growth hormone. This hormone is critical to the stimulation of growth in children and helps regulate metabolism in adults.

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Hypopituitarism is a condition in which the pituitary gland does not produce one or more of its essential hormones, or produces them in insufficient amounts. These hormones are crucial for growth, puberty, metabolism, and stress response, so deficiencies can seriously affect a child’s growth and development.

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Gonadal dysgenesis is a condition in which the gonads – reproductive organs – fail to develop properly, resulting in underdevelopment or dysfunction. This leads to a lack of normal production of sex hormones (like estrogen or testosterone) and gametes (sperm or eggs). Gonadal dysgenesis can result from genetic mutations or chromosomal abnormalities.

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Prader-Willi syndrome (PWS) is a rare, complex genetic disorder that affects various parts of the body, including metabolism, growth, behavior, and muscle mass. Most PWS diagnoses occur during childhood. It’s typically caused by the loss of function of genes in an area of chromosome 15.

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Turner syndrome is a genetic disorder that affects females and results from the complete or partial loss of one of the X chromosomes. It occurs in approximately 1 in every 2,500 female births and can cause a range of developmental, physical, and medical issues, impacting growth and sexual development.