Endocrine Diseases

Diabeties Mellitus

A chronic metabolic disorder characterized by persistently elevated blood glucose levels due to insufficient insulin production, impaired insulin action, or both. There are two main types: Type 1 diabetes (autoimmune destruction of pancreatic β-cells) and Type 2 diabetes (insulin resistance with relative insulin deficiency). Symptoms include increased thirst, frequent urination, fatigue, and weight changes. Long-term complications affect the heart, kidneys, eyes, and nerves. Management involves lifestyle modification, glucose monitoring, and medication or insulin therapy. Prevalence has risen ~7% → ~14% among adults from 1990–2022. While type 1 only makes up 10–15% of all diabetes

Acromegaly

A rare endocrine disorder caused by excessive growth hormone secretion, usually due to a pituitary adenoma. Symptoms develop gradually and include enlarged hands and feet, facial changes, joint pain, and cardiovascular complications. If untreated, acromegaly increases morbidity and mortality. Treatment includes surgery, radiation, and medications to reduce growth hormone levels.

Polycystic Ovary Syndrome

A common endocrine disorder in women of reproductive age characterized by hormonal imbalance and ovulatory dysfunction. Symptoms include irregular menstrual cycles, excess androgen levels (causing acne or hirsutism), and polycystic ovaries on ultrasound. PCOS is associated with insulin resistance, obesity, and increased risk of type 2 diabetes. Management includes lifestyle changes and hormonal or metabolic treatments. Affects ~6–13% of reproductive-aged women globally.

Cushing’s Syndrome

A hormonal disorder caused by prolonged exposure to elevated levels of cortisol. Clinical features include central obesity, moon face, muscle weakness, hypertension, and glucose intolerance. Causes include long-term corticosteroid use or cortisol-secreting tumors. Diagnosis involves hormonal testing and imaging. Treatment focuses on addressing the underlying cause and reducing cortisol levels.

Hypothyroidism

A condition in which the thyroid gland produces insufficient thyroid hormones, leading to a slowed metabolic state. Common symptoms include fatigue, weight gain, cold intolerance, constipation, and dry skin. The most common cause is autoimmune thyroiditis (Hashimoto’s disease). Diagnosis is confirmed by elevated TSH and low thyroid hormone levels. Treatment typically involves lifelong thyroid hormone replacement. Affects 4.23–4.28 per 10,000 newborns globally.

Hyperthyroidism

A disorder characterized by excessive production of thyroid hormones, resulting in an increased metabolic rate. Symptoms include weight loss, heat intolerance, tremors, palpitations, anxiety, and increased appetite. Graves’ disease is the most common cause and is autoimmune in nature. Treatment options include antithyroid medications, radioactive iodine therapy, or surgery, depending on severity and cause.

Addison’s Disease (Primary Adrenal Insufficiency)

Addison’s disease is a rare endocrine disorder in which the adrenal glands fail to produce adequate amounts of cortisol and aldosterone. The condition is most often caused by autoimmune destruction of the adrenal cortex, though infections and genetic factors may also play a role. Symptoms are often nonspecific and include chronic fatigue, weight loss, low blood pressure, hyperpigmentation, and salt craving, which can delay diagnosis. There are no known preventive measures, but lifelong hormone replacement therapy allows most individuals to live relatively normal lives. Addison’s disease has a global prevalence estimated at 40–140 cases per million people, making it a rare but serious condition.

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia is a group of inherited endocrine disorders characterized by impaired cortisol production due to enzyme deficiencies in the adrenal glands. The most common cause is 21-hydroxylase deficiency, which leads to hormone imbalances affecting cortisol, aldosterone, and androgen levels. Symptoms vary by severity and may include dehydration and electrolyte imbalance in infants, ambiguous genitalia in females, and early puberty or growth abnormalities in children. CAH cannot be prevented, but newborn screening allows early diagnosis and life-saving treatment. Globally, CAH occurs in approximately 1 in 10,000–15,000 live births.

Diabetes Insipidus

Diabetes insipidus is a rare endocrine disorder characterized by the inability to concentrate urine, leading to excessive urination and intense thirst. It is caused either by insufficient production of antidiuretic hormone (central diabetes insipidus) or by renal resistance to the hormone (nephrogenic diabetes insipidus). Symptoms include persistent thirst, dehydration, and electrolyte imbalance if untreated. Prevention is limited, though some cases related to head injury or medication use may be avoidable. Diabetes insipidus is rare, with an estimated prevalence of approximately 1 in 25,000 people worldwide.

Hypopituitarism

Hypopituitarism is an endocrine condition in which the pituitary gland fails to produce one or more essential hormones, affecting multiple bodily functions. Causes include pituitary tumors, traumatic brain injury, radiation therapy, infections, or congenital abnormalities. Symptoms depend on the hormones affected and may include fatigue, infertility, growth failure in children, low blood pressure, and cold intolerance. While prevention is limited, early treatment of pituitary tumors and head injuries may reduce risk. Hypopituitarism is considered rare, with an estimated prevalence of 45 per 100,000 people globally.

Pheochromocytoma

Pheochromocytoma is a rare endocrine tumor of the adrenal medulla that produces excessive catecholamines, leading to episodic or sustained hypertension. It is caused by genetic mutations in a significant proportion of cases, particularly in inherited cancer syndromes. Symptoms include severe headaches, sweating, palpitations, anxiety, and high blood pressure. There are no general preventive measures, but genetic screening in high-risk families enables early detection. Pheochromocytomas occur in approximately 2–8 cases per million people per year, making them rare but clinically significant.