Pediatric Diabetes and Endocrinology

The hormones released by the adrenal glands play a role in many functions, including turning food into energy (metabolism), managing stress, and regulating blood pressure. Adrenal conditions we treat include:

Adrenal insufficiency (Addison’s disease)

The adrenal glands don’t produce enough cortisol, a hormone that manages stress response and other functions. Symptoms can include dizziness, fatigue, nausea, muscle weakness, and abdominal pain.

Congenital adrenal hyperplasia (CAH)

This condition causes enlarged adrenal glands that cannot produce enough of one or more of the hormones they produce. Symptoms depend on which hormones are underproduced, but may include abnormal growth and early puberty.

Congenital adrenal hypoplasia (AHC)

This condition results in adrenal glands that are small and underdeveloped. It mainly affects boys. It is one of the main root causes of adrenal insufficiency and can also cause issues with the male reproductive system due to lack of testosterone.

Cushing syndrome

The adrenal glands produce too much of the stress hormone cortisol, which can result in weight gain (especially in the face and torso), a fatty lump on the upper back, and skin that bruises easily. Eventually, untreated Cushing syndrome could lead to diabetes, high blood pressure, and loss of bone density.

Hormonal imbalances can affect the shape, strength, and growth of bones and teeth, as well as the levels of calcium in the bloodstream. Conditions we treat include:

Hypercalcemia

A hormonal imbalance causes an excessive buildup of calcium in the bloodstream. Symptoms can include frequent urination, fatigue, nausea, headaches, muscle pain, and more. Over time, chronic hypercalcemia can weaken bones and make them more prone to fracturing.

Hypocalcemia

Calcium levels in the bloodstream are too low. Early symptoms may include muscle cramping, dry skin, and brittle nails. Chronic hypocalcemia can eventually lead to brain, nervous system, and heart damage.

Hypophosphatasia (HPP)

This condition interferes with the bone strengthening process. This leaves bones and teeth softer and weaker than they should be. There are several different forms of HPP, ranging from relatively mild (bones are slightly weaker and more prone to stress fractures) to severe cases that can result in short, mishappen bones.

Osteogenesis imperfecta (brittle bone disease)

This condition disrupts the body’s ability to manufacture collagen, resulting in bones that are especially fragile. Other symptoms may also occur, including bone deformities and muscle weakness.

Osteopenia (low bone mass)

This is a general term that means bones are not as dense as they should be, which makes them more prone to breaking. When the loss of bone mass is severe, it is known as osteoporosis.

Parathyroid disease

When levels of calcium in the bloodstream are low, parathyroid hormone signals the bones to release some of their stored calcium. Too much parathyroid hormone (hyperparathyroidism) can cause bones to become brittle and weak, while too little (hypoparathyroidism) can cause them to become excessively dense.

Rickets

This condition causes softness and weakness in bones that are still growing, causing them to warp and bend. Common signs included bowed legs, muscle weakness, and slow or delayed growth. Vitamin D deficiency is the most common cause. Other causes include a genetic mutation that results in low phosphate levels in the blood (hypophosphatemic rickets).

Diabetes prevents the body from either making or responding to insulin, a hormone that allows sugar to move into the body’s cells to be used as energy. When sugar can’t get into cells, it builds up in the bloodstream and can start to damage organs. Over time, this can lead to kidney damage, nerve damage, heart attack, stroke, eye problems, and other health issues. There are many forms of diabetes. Conditions we treat include:

Type 1 diabetes

The body doesn’t naturally produce enough insulin to regulate blood sugar, due to the immune system mistakenly attacking and damaging the insulin-producing cells of the pancreas. It is the most common form of diabetes diagnosed in children or adolescents, though it can develop later in life too.

Type 2 diabetes

Although most people with type 2 diabetes produce enough insulin, the body’s cells lose the ability to respond to it or use it correctly. Lifestyle factors, such as obesity and low activity levels, often play a role in causing this form of diabetes.

Cystic fibrosis-related diabetes (CFRD)

People with cystic fibrosis produce thick mucus that builds up in several organs, including the pancreas. Over time, this can cause pancreatic scarring that interferes with insulin production.

Maturity-onset diabetes of the young (MODY)

This form of diabetes is caused by a genetic mutation that alters the way the body produces insulin or releases insulin. Several types exist, with slight differences depending on which genes are affected.

These conditions are caused by specific genetic defects, including mutation of a single gene, additional chromosomes, or missing pieces of a child’s genetic code. They often have wide-ranging symptoms that affect multiple areas of the body, including the endocrine system. Some of the genetic conditions that we help treat include:

Achondroplasia

This condition stunts bone growth in the arms and legs. It is the most common form of dwarfism.

DiGeorge syndrome

Babies born with this syndrome are missing a specific set of genes from their 22nd chromosome. It can result in a range of developmental difficulties, including underproduction of parathyroid hormone (hypoparathyroidism).

Klinefelter's syndrome

This condition affects boys who were born with an extra copy of the X chromosome (XXY instead of XY). Symptoms can include delayed puberty, smaller than normal genitals, and developmental delays with motor and language skills. Fertility preservation procedures may be required during adolescence to protect the possibility of having biological children in the future.

Noonan syndrome

This condition is the result of a genetic mutation that can cause multiple endocrine problems, included slowed growth, abnormal facial features during infancy, bone deformities, and more.

Prader-Willi syndrome

Children with this condition feel intense hunger and don’t feel full even after meals. This puts them at high risk of developing obesity and related health problems.

Russell-Silver syndrome

This genetic growth disorder can cause a variety of symptoms, including low birth weight and slow growth, difficulty with feeding, and structural abnormalities of the face.

Turner syndrome

This condition affects girls who have one of their two X chromosomes partially or completely missing. Without treatment, it typically results in slow growth, delayed (or lack of) puberty, and infertility.

The pituitary gland releases hormones that regulate and coordinate other endocrine glands and also makes human growth hormone. As a result, pituitary gland conditions can affect almost every major body process, including growth, digestion, immune system function, stress, mood, sexual development, and more. Conditions we treat include:

Diabetes insipidus

The pituitary gland does not make or release enough antidiuretic hormone, which helps the body retain water after it’s been filtered through the kidneys. This can cause excessive thirst, excessive urination, poor growth, dehydration, bed-wetting, poor growth, vomiting, and irritability.

Failure to thrive

This means that a child is not growing or gaining weight as quickly as expected given their age.

Growth hormone deficiency

The pituitary gland doesn’t release enough growth hormone, which can cause slow growth, delayed puberty, and other health problems.

Hyperprolactinemia

Overproduction of prolactin, a hormone responsible for breast development and lactation, as well as other body functions. This can lead to sexual and reproductive dysfunction (in both males and females), low bone mass, and other symptoms.

Pituitary hormone deficiencies (hypopituitarism)

Underproduction of at least one pituitary hormone. Symptoms vary widely depending on which hormones are low or missing. If all pituitary hormones are deficient (panhypopituitarism), the effects throughout the body can be severe and even life-threatening without treatment.

Pituitary tumors

A tumor on the pituitary gland can cause either underproduction or overproduction of various hormones, including those that control growth, sexual development, blood sugar, and many other processes.

Septo-optic dysplasia (de Morsier syndrome)

Children born with this condition have at least two of these three symptoms: an underdeveloped optic nerve (which connects the eyes to the brain), a missing membrane in the middle part of the brain, and pituitary gland abnormalities. It is frequently a root cause of growth hormone deficiency.

Syndrome of inappropriate antidiuretic hormone secretion (SIADH)

Overproduction of antidiuretic hormone, which causes the body to retain too much water in the bloodstream. This can cause muscle cramping, nausea, headaches, balance issues, behavior changes, and other symptoms.

Endocrine disorders and hormonal imbalances can interfere with childhood sexual development, puberty, and healthy functioning of the reproductive system. Conditions we treat include:

Amenorrhea

Absence of menstruation in females. It is considered primary if a girl has not had her first period by age 15, or secondary if she misses three or more consecutive periods.

Delayed puberty

This can refer to puberty that hasn’t begun by the expected age or has started but has stalled or is progressing slowly. Signs of this condition can include no breast development by age 13 or periods by age 15 in girls, or no testicle growth by 14 or public hair by 15 in boys.

Disorders of sex development (DSD)

In these disorders, a child’s genitals or reproductive organs don’t develop as expected based on their chromosomes (XX for female, XY for male). Some DSDs result in genitals that appear ambiguous (not fully male or female). In other cases, kids appear normal at birth, and the DSD may not be diagnosed until adolescence (such as a female with XY chromosomes not experiencing puberty).

Male gynecomastia

Abnormal breast development in boys.

Polycystic ovary syndrome (PCOS)

This condition causes multiple immature follicles (the sacs that contain and release egg) to clump on the outside of an ovary. This can prevent the release of mature eggs and cause irregular or missed periods and fertility issues, as well as other symptoms like excessive hair growth and weight gain.

Precocious puberty

Signs of puberty begin at a very early age, typically before 7 or 8 in girls or before 9 in boys.

Primary ovarian insufficiency

The ovaries begin failing at an early age, leading to irregular periods and fertility challenges. It can also cause symptoms similar to menopause, including night sweats, hot flashes, vaginal dryness, and anxiety.

The thyroid gland is primarily responsible for how quickly your child’s body burns energy from the food they eat or from stored energy reserves (such as fat). Because all body processes require energy to function — even at rest — thyroid disorders can have wide-ranging effects on heart rate, breathing, digestion, body temperature, physical growth, brain development, mood, and many other processes. Thyroid conditions we treat include:

Goiter

The thyroid gland is enlarged. It can be a root cause of hyperthyroidism or hypothyroidism, as well as difficulty swallowing or breathing if the swollen gland presses on the food pipe or wind pipe.

Graves’ disease

This is an autoimmune condition in which the body attacks the thyroid gland. It is one of the most common root causes of hyperthyroidism. It can also lead to other health challenges, including painful eyes and vision problems.

Hyperthyroidism

Excessive production of thyroid hormones. Signs include rapid, unexplained weight loss despite increased hunger, rapid heartbeat, anxiety, hand tremors, and others.

Hypothyroidism

The thyroid doesn’t produce enough thyroid hormones. Signs include slow growth, delayed puberty, rapid and unexplained weight gain, abnormally slow heart rate, cold sensitivity, and others. It may be present at birth (congenital hypothyroidism) or develop later in life due to triggers such as infections or medical treatments (acquired hypothyroidism).

Thyroid cancer

Early signs of thyroid cancer include an unexplained hoarse voice, a lump or swollen lymph nodes in the neck, or feeling a lump in the throat during swallowing.

Thyroid nodules

Lumps that form in the thyroid gland, which may or may not be cancerous. Even when lumps are not cancer, they may still cause symptoms like pain, difficulty swallowing, or hyperthyroidism.