Adrenal ​​disorders in children​​

Short Stature

​The term short stature refers to any child who has a height well below the average for their age and sex. Most children who have a short stature have no medical condition, are healthy, and grow at​a normal rate. However, it may occasionally be a sign that a child does have a serious health problem such as:

  1. Chronic medical condition, such as: heart disease, asthma, celiac disease, inflammatory. bowel disease, kidney disease, anemia, and bone disorders.
  2. Hypothyroidism, growth hormone deficiency, diabetes, and Cushing disease.
  3. Genetic conditions
  4. Poor nutrition.
  5. Babies with a history of being born small (small for gestational age or with a history of intrauterine growth retardation)

​The best way to monitor a child’s growth over time is through a ‘Growth Chart’. Six months is a typical time frame for assessment of growth. However, if the child is growing more slowly than normal, doctors will usually do some tests to look for signs of one or more of the medical conditions​​described above. In addition, the doctor may check the child’s bone age by doing x-ray of left hand/wrist.

If needed, Growth Hormone Injections may be prescribed. These injections are given subcutaneously (under the skin) daily at bedtime. Growth is monitored every 6 months by a p​ediatric endocrinologist, who will adjust the dose as needed.

Pituita​​ry Disorders

The pituitary gland is a small, pea-sized gland located in the center of the brain between and behind the eyes. It is sometimes called the “master gland” because it also contro​​ls the release of hormones from other glands. The hormones produced or controlled by the pituitary gland regulate important functions. The pituitary gland is made of the anterior and posterior lobes.

The anterior lobe produces:

• Growth hormone - regulates growth, metabolism, and body composition (bone and muscle mass and fat distribution)

• Gonadotrophins (follicle-stimulating hormone and luteinizing hormone) – stimulates the ovaries and testes to produce sex hormones at the time of puberty.

• Prolactin - stimulates the production of breast milk during pregnancy and after birth.

• Adrenocorticotropic hormone - stimulates the adrenal gland to produce hormones that regulate metabolism and the body’s response to stress.

• Thyroid-stimulating hormone - stimulates the thyroid gland to produce thyroid hormones that control important metabolic functions.

The posterior lobe produces:

• Anti-diuretic hormone – allows the kidneys to absorb more water into the blood.

• Oxytocin - stimulates the uterus contraction during childbirth and production of breast milk.

Common Pituitary dis​orders include

• Multiple pituitary hormone deficiency (also known as hypopituitarism)

• Underdeveloped pituitary gland

• Pituitary adenoma, tumor, or cyst

• Surgery and radiation treatment to the brain

Hypopituitarism is almost always a permanent condition, but it is treatable. Treatment involves replacing the hormones normally made by the target glands in the form of a pill, or an injection. The child may lack one or two hormones right now; however, it is possible to become deficient in some of the other pituitary hormones in the future, therefore, a regular follow-up with a pediatric endocrinologist in necessary.

Puberty and related disorders

​​Normal Puberty

Puberty is a natural phase of growth and development that typically occurs during adolescence. It marks​ the transition from childhood to adulthood and involves a series of physical, emotional, and hormonal changes. In girls, normal puberty usually begins between the ages of 8 and 13, while in boys, it typically starts between the ages of 9 and 14.

For females

• Breast Development: The first visible sign of puberty.

• Growth Spurt: A significant increase in height, in the early phase of puberty.

• Body Hair: Growth of pubic and underarm hair.

• Menstruation: Menstrual periods usually start around two years after breast development begins, and usually signifies the completion of puberty.

For males:​

• Enlargement of Testicles and Penis: One of the initial signs.

• Voice Deepening: The voice may become deeper as the larynx grows.

• Facial Hair: Boys may start to grow facial hair, pubic and axillary hair.

• Growth Spurt: Unlike girls, boys experience a growth spurt in the later phase of puberty.

Common P​​ubertal Disorders

Precocious Puberty: This is early onset puberty, occurring before the typical age. It can lead to physical and emotional challenges, as well as early fusion of bones to cause short adult height.
Delayed Puberty: Delayed onset or delayed completion of puberty in both boys and girls. It might be due to various factors, such as genetics or underlying medical conditions.
Gynecomastia: In boys, this refers to the enlargement of breast tissue, which can be a temporary occurrence or may require medical evaluation.
Polycystic Ovary Syndrome (PCOS): A common condition in girls, characterized by irregular menstrual periods, excess hair growth, and sometimes weight issues.
Hypogonadism: A condition where the testes or ovaries don't function correctly, resulting in hormone imbalances and delayed puberty.
Thyroid Disorders: Thyroid issues can disrupt normal puberty due to their impact on hormone regulation.

Hyperinsulinism (HI)​

HI is a condition in which the body produces too much of insulin. Insulin is secreted by the pancreas to help prevent high blood sugar. However, in babies with HI, excess insulin is released causing low blood sugars (Hypoglycemia). Unless treated, frequent low blood sugars can be dangerous to a baby causing seizures, brain injury or death.​

The most common type of Hyperinsulinism (HI) is a transient (temporary) type, which usually goes away by the time a baby is 6 months of age. Risk factors for developing transient HI include infants born to mothers who had diabetes, who had a stressful delivery or pregnancy, or babies small or large for their gestational age.

The more persistent, rarer type of HI is called Congenital Hyperinsulinism (CHI) which can be caused by genetic changes.

Symptoms of low blood sugars:

• Pale, sleepiness, cool/clammy skin, irritability, poor feeding, decreased energy, seizures, rapid heart rate.

• BUT – most babies will have NO symptoms when their blood sugars are low.

How do we diagnose HI? ​

HI will be suspected in infants having recurrent low blood sugars, or where extra sugar through an IV line is needed to keep the sugars normal. Blood tests are done to help confirm HI: when a baby’s blood sugar is low, the insulin level is inappropriately high in children with HI. For congenital hyperinsulinism, genetic testing may be necessary to identify specific gene mutations.


The management of hyperinsulinism depends on its type and severity. The primary goals of treatment are to maintain normal blood sugar levels and prevent hypoglycemic episodes. Treatment options may include:

• Medications: The most common treatment for HI is diazoxide, a medication that prevents extra insulin release. Most patients with transient HI are able to come off diazoxide before 6 months of age.

• Dietary Modifications: Controlling blood sugar through specialized diets that focus on frequent meals and specific nutrient compositions.

• Surgery: Most patients with transient HI can come off diazoxide before 6 months of age. However, in diazoxide unresponsive cases or CHI, surgical removal of insulin-producing tumors (if present) or partial removal of the pancreas (sub-total or near total pancreatectomy) may be necessary.

Endocrine problems in Transfusion dependent Children

Transfusion-dependent children, particularly those with thalassemia major, are at risk of Iron overload. Repeated blood transfusions can cause the accumulation of excess iron in the body, leading to complications in vital organs like the heart, liver, and endocrine glands. The endocrinological problems may include:

• Hypopituitarism: Iron overload can cause deficiency of various pituitary hormones leading to short stature and Hypogonadsim.

• Hypogonadism: Iron overload can affect the testes (in males) and ovaries (in females), causing delayed puberty, reduced fertility, and hormonal imbalances.

• Hypothyroidism: The thyroid gland may be impacted by iron overload, resulting in an underactive thyroid, which can lead to fatigue, weight gain, and other symptoms.

• Diabetes: Iron overload can damage the pancreas, leading to insulin resistance and an increased risk of developing diabetes.

• Hypoparathyroidism: Deficiency of parathyroid hormone can result from excess iron in the body which lead to decreased calcium levels, and bone health related issues.

Diagnosis and m​anagement 

Regular screening of endocrine related complications is necessary in transfusion dependent children. Medications to remove excess iron from the body and prevent further iron buildup help prevent these complications. When hormonal imbalances are detected, hormone replacement therapy may be necessary.

Patients with thalassemia major benefit from a multidisciplinary healthcare team, which may include pediatric endocrinologists, hematologists, and other specialists. This approach ensures comprehensive care tailored to the child's unique needs.

It's essential for patients and their families to understand the potential endocrine complications associated with thalassemia major. Regular medical follow-ups and adherence to treatment plans are critical to managing these challenges and maintaining the best possible quality of life.