Genetic Disorders & Genetic Conditions

 Genetic disorders or inherited diseases, genetic conditions, genetic abnormalities and genetic defects are one of the causes of endocrine conditions. Any of the genetic conditions listed below can cause an increase or decrease in levels of endocrine hormones. These are of particular significance for relatives of the patient.

Multiple Endocrine Neoplasia Types 1, 2, 3

Multiple Endocrine Neoplasia (MEN) Types 1, 2, and 3 are rare inherited genetic conditions which affect the pituitary, thyroid, parathyroid, adrenal glands, and pancreas.

  • MEN 1 occurs when tumours develop in the glands and are associated with swellings on the kidney, lungs, and abnormal and benign growth of the skin.

  • MEN 2 occurs due to a high calcium level and results in tumours and overactivity of the thyroid, and tumours of the kidney.

  • MEN 3 is similar to type 2 and also affects the lips, tongue, and bowel.

Diagnosis is through a genetic test, and treatment procedures depend on the type of tumours present. A proper treatment identifies and replaces the deficient hormones.

Kennedy’s Disease

 Kennedy’s Disease or Kennedy Syndrome is a rare inherited condition which affects the nerves and muscles.

Kennedy’s Disease symptoms are severe cramps, a progressive weakening, and wasting of muscles, particularly in the arms and legs, and difficulties with speech and swallowing.

Diagnosis involves blood and genetic tests. The treatment focuses on easing the symptoms since a cure is not yet available.

Rare Genetic Disorders, Syndromes & Conditions

A rare genetic disorder is an uncommon condition or syndrome that is caused by a change in a DNA sequence. The change could be due to an alteration in one or multiple genes, a combination of alterations, environmental factors, or alterations in the structures that carry the genes.

Some alterations are inherited from the parent genes and are present at birth. Some occur during a person's life, and others occur randomly or due to environmental exposure.

Diagnosis involves running a thorough test to ascertain causes. Because this condition is rare, adequate steps are taken to ensure proper treatment.

Phaechromocytoma and Paraganglioma

Phaechromocytoma and Paraganglioma are tumours or abnormal growth of tissues inside and outside the adrenal gland.

Phaechromocytoma occurs in the central part of the adrenal gland, sitting just above the kidneys. The adrenal gland produces hormones which control our response to stress and increased physical activity. Phaechromocytoma causes an overproduction of hormones.

Paraganglioma is similar to phaechromocytoma but affects the body's nervous system that controls blood pressure and impacts the abdomen, head, neck, chest, or abdomen.

A thorough test would reveal the causes of phaechromocytoma or paraganglioma and direct treatment procedures. 

Pituitary disease

Pituitary diseases occur when there is an imbalance of hormones of the pituitary gland. The pituitary gland is a tiny organ that sits at the base of the brain. It is also called the "master gland" because it makes and stores many different hormones.

Pituitary tumour symptoms include pressure in the gland that can cause weakness, fatigue, vision problems, including loss of vision, headaches, seizures, and other hormone-related symptoms.

Treatment depends on the results of proper laboratory tests. The treatment procedures include surgery, medication, hormone replacement, and radiation therapy.

For more information on Pituitary disease, please visit Hormones Australia website.

Parathyroid tumours

The parathyroid glands are in the thyroid gland, on the neck. Their job is to produce parathyroid hormone (PTH), which is required to control the amount of calcium and phosphorus in your blood. The tumour is an abnormal growth on the parathyroid gland. 

Parathyroid tumours can cause an imbalance in the body's ability to utilise calcium and phosphorus, resulting to fragile, brittle, or painful bones, excessive urination, kidney stones, depression, nausea, and abdominal muscle pain.

Diagnosis involves checking the blood levels for PTH. Besides elevated PTH levels, other tests and scans may be required to confirm the condition. If severe, surgery may be necessary.

For more information on Parathyroid tumours, please visit Hormones Australia website.

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia is an inherited disorder that affects the adrenal glands. The adrenal glands produce hormones that affect the functioning of the immune system, metabolism, blood, pressure, response to stress, and other essential functions.

The condition can cause an imbalance of hormones such as cortisol, androgens, and aldosterone. With too little, too much, or no hormone production, congenital adrenal hyperplasia symptoms include irregular or absent periods, severe acne, excessive body hair, and other conditions.  

Congenital adrenal hyperplasia treatment involves running several blood tests to confirm the diagnosis. After diagnosis, the deficient hormones are replaced to correct the imbalance.