Pediatric Diabetes and Endocrinology

The adrenal glands release hormones that play a role in turning food into energy (metabolism), regulating blood pressure, managing stress, and more. Conditions that affect adrenal function include:

Adrenal insufficiency (Addison’s disease)

The adrenal glands don’t produce enough of a hormone called cortisol. Symptoms may include weakness, dizziness, fatigue, nausea, and abdominal pain.

Congenital adrenal hyperplasia (CAH)

This genetically inherited condition results in enlarged adrenal glands and an imbalance in the hormones they produce. Symptoms can vary depending on the type of imbalance, but may include abnormal growth, early onset of puberty, and other symptoms affecting the reproductive organs.

Congenital adrenal hypoplasia (AHC)

In this condition, the adrenal gland is underdeveloped due to an inherited genetic mutation. It affects boys much more frequently than girls. It can be a root cause of adrenal insufficiency. Other symptoms may include an underdeveloped reproductive system due to lack of male sex hormones.

Cushing syndrome

The adrenal glands produce too much cortisol. Signs may include weight gain in the face and torso, a lump on the upper back between the shoulders, and easy bruising. Untreated Cushing syndrome can lead to high blood pressure, diabetes, and bone loss (osteoporosis).

Hormones play an important role in growing strong bones and keeping them healthy. If they are out of balance, bones may become brittle or deformed or release too much (or too little) calcium into the bloodstream. Conditions we treat include:

Hypercalcemia

Too much calcium builds up in the bloodstream. Symptoms vary based on severity, but can include frequent urination, fatigue, headaches, nausea, muscle aches, and others. Over time, chronic hypercalcemia can weaken bones and make them more prone to breaking.

Hypocalcemia

Not enough calcium in the bloodstream. Early signs can include muscle cramps, dry skin, and brittle nails. Over time, this condition can damage the brain, nervous system, and heart.

Hypophosphatasia (HPP)

This genetic condition prevents bones and teeth from strengthening properly, leaving them softer and weaker than normal. Symptoms can be relatively mild (such as increased risk of stress fractures and early loss of baby teeth) to severe (such as short, misshapen bones) depending on the specific genetic mutation involved.

Osteogenesis imperfecta (brittle bone disease)

Children with this condition have fragile bones due to the body’s inability to produce healthy collagen. They may experience other symptoms as well, including bone deformities and muscle weakness.

Osteopenia (low bone mass)

Bones are not as strong or dense as they should be. If bones continue to weaken, it may develop into osteoporosis, which can result in delayed growth and higher risk of bone fractures.

Parathyroid disease

Parathyroid hormone triggers the bones to release small amounts of calcium into the bloodstream when calcium levels are low. If the parathyroid releases too much of it (hyperparathyroidism), bones can become brittle and weak. If it doesn’t release enough (hypoparathyroidism), bones can become excessively dense.

Rickets

This condition causes soft, weakened bones that warp and bend as they grow. Symptoms include bowed legs, muscle weakness, and delayed growth. It’s usually caused by a Vitamin D deficiency, but other causes are possible, including lack of phosphate in the blood due to a genetic mutation (hypophosphatemic rickets).

Diabetes impairs the body’s ability to either produce or use insulin, a hormone that allows sugar to move from the bloodstream to the body’s cells to be used as energy. The result is high levels of sugar in the blood, which can damage organs over time. Poorly managed diabetes can eventually lead to kidney disease, eye problems, nerve damage, stroke, heart attack, and other health problems. Diabetes conditions include:

Type 1 diabetes

The insulin-producing cells of the pancreas are damaged by an overactive immune system, meaning the body cannot naturally produce enough insulin to regulate blood sugar. This form of diabetes is usually diagnosed in children and adolescents, though it can develop at any age.

Type 2 diabetes

The body produces enough insulin, but the body’s cells stop responding to it correctly. It is usually caused by a combination of genetic and lifestyle factors, especially excess body weight and lack of exercise.

Cystic fibrosis-related diabetes (CFRD)

Cystic fibrosis causes thick mucus to build up in several organs, including the pancreas. Over time, this can damage its ability to produce enough insulin.

Maturity-onset diabetes of the young (MODY)

This form of diabetes is caused by an inherited genetic mutation that disrupts the way the body produces insulin. There are several different types, based on which genes are affected. It is often diagnosed in adolescence or early adulthood.

These conditions are caused by specific genetic mutations or defects (such as an abnormal gene mutation, missing genes, or extra chromosomes) within a child’s DNA. They frequently affect many different systems of the body and may require treatment from experts in a variety of different medical specialties, including endocrinologists for hormone-related symptoms. Examples include:

Achondroplasia

This growth disorder results in abnormally short arms and legs. It is the most common cause of dwarfism.

DiGeorge syndrome

Babies born with this syndrome are missing a small segment of genetic material from chromosome 22. This can result in a variety of developmental difficulties, including hypoparathyroidism (which causes bones to become dense) and other endocrine disorders.

Familial lipid syndromes

These conditions reduce the body’s ability to remove unhealthy cholesterol or other fats from the bloodstream. This can result in cardiovascular and heart problems at an early age, including heart disease, heart attack, and stroke.

Klinefelter's syndrome

Children with this syndrome are males born with an extra copy of the X chromosome (XXY instead of the typical XY). Symptoms may not be noticeable but can include future infertility (especially without fertility preservation procedures in adolescence or early adulthood), delayed puberty, smaller than normal genitals, and delays in motor and language development.

Noonan syndrome

This condition can cause a wide range of endocrine problems, including slow growth and delayed puberty. Other symptoms can include abnormal facial features (which tend to be most apparent during infancy but become more normal with age), heart disease, and learning delays.

Prader-Willi syndrome

This condition can cause hormonal imbalances that result in excessive hunger and not feeling full even after meals. If not properly managed, many children with Prader-Wili syndrome develop obesity and related health problems.

Russell-Silver syndrome

This condition is a growth disorder that may result in low birth weight, slow growth, difficulty feeding, and mild to moderate physical abnormalities (especially in the face).

Turner syndrome

Children with this syndrome are females born with one of their X chromosomes partially or completely missing. Untreated Turner syndrome typically results in slowed growth, delayed or stalled puberty, and infertility.

The pituitary gland makes human growth hormone and also releases hormones that coordinate and control other endocrine glands. Because of this, pituitary gland conditions can affect a huge variety of body processes, including physical growth, digestion, immune response, stress response, energy storage, sexual development, and many more. Conditions we treat include:

Diabetes insipidus

The body does not make or release enough antidiuretic hormone. Signs of the condition in infants and children include excessive thirst, excessive urination, dehydration, bed-wetting, poor growth, vomiting, and irritability.

Failure to thrive

This refers to children who are growing or gaining weight more slowly than expected given their age.

Growth hormone deficiency

The child’s pituitary gland doesn’t release enough growth hormone, which can result in slow growth, delayed puberty, and other symptoms.

Hyperprolactinemia

Overproduction of hormones responsible for breast development and lactation, which can lead to sexual and reproductive dysfunction, low bone mass, and other symptoms. It can affect girls and boys.

Pituitary hormone deficiencies (hypopituitarism)

The pituitary gland doesn’t make enough of at least one hormone. Symptoms vary widely depending on which hormones are deficient. If the pituitary gland isn’t making enough of any of its hormones (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 a variety of different hormonal imbalances, depending on the location and size of the tumor. They can result in underproduction or overproduction of hormones that control growth, sexual development, the balance of sugar and salt in the bloodstream, and many other body processes.

Septo-optic dysplasia (de Morsier syndrome)

Children with this condition are born with at least two of the following: an underdeveloped optic nerve (which connects the eyes and brain), a missing septum pellucidum (a structure in the middle of the brain), and pituitary gland dysfunction. It is a common root cause of growth hormone deficiency.

Syndrome of inappropriate antidiuretic hormone secretion (SIADH)

The body produces too much antidiuretic hormone, which causes the kidneys to retain too much water. Symptoms can include muscle cramping, nausea, balance difficulties, headaches, or behavioral changes.

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

Amenorrhea

Lack of menstruation in females. It could be primary (for girls 15 or older who have never had a period) or secondary (three or more consecutive missed periods in someone who has had them in the past).

Delayed puberty

Doctors use this term when standard signs of puberty haven’t begun by a certain age or puberty has begun but is progressing slowly. Signs for girls include no breast development by age 12-13 and no periods by age 15. Signs for boys include no testicle growth by 14 or public hair by 15.

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 isn’t diagnosed until puberty.

Male gynecomastia

Abnormal breast development in boys.

Polycystic ovary syndrome (PCOS)

This condition causes hormonal imbalances in girls and women that can prevent the release of mature eggs and result in irregular periods, fertility challenges, excessive hair growth, and other possible symptoms.

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 stop working properly at an early age. This can cause irregular periods, difficulty getting pregnant, and symptoms similar to menopause (such as hot flashes, night sweats, vaginal dryness, or anxiety).

The thyroid gland controls how quickly the body converts the food they eat into energy. Because every cell needs energy, thyroid disorders can affect nearly every biological process, including heart rate, breathing, digestion, temperature, growth, brain development, mood, and more. Thyroid conditions we treat include:

Goiter

Swollen or enlarged thyroid gland. This can lead to thyroid problems (hyperthyroidism or hypothyroidism) or difficulty with swallowing or breathing.

Graves’ disease

The immune system mistakenly attacks the thyroid gland, causing it to produce excess thyroid hormone. In addition to being one of the most common causes of hyperthyroidism, it can also cause swollen, painful eyes and vision problems.

Hyperthyroidism

Overproduction of thyroid hormones, which can lead to rapid weight loss despite increased hunger, rapid heartbeat, hand tremors, anxiety, and many other symptoms.

Hypothyroidism

Underproduction of thyroid hormones, which can cause poor growth and delayed puberty in kids and also cause symptoms like rapid weight gain, slow heart rate, swelling, fatigue, and cold sensitivity. It may be present at birth (congenital hypothyroidism) or develop later due to infections, medical treatments, or other triggers (acquired hypothyroidism).

Thyroid cancer

In children, the early signs of thyroid cancer can include a lump or swollen lymph nodes in the neck, feeling a lump in the throat while swallowing, or a hoarse voice.

Thyroid nodules

Abnormal lumps that form in the thyroid gland, which may be cancerous or benign (non-cancerous). Benign nodules may require treatment if they are causing symptoms such as pain, difficulty swallowing, or overproduction of thyroid hormone.