Acromegaly is a rare condition typically diagnosed between the ages of 30 and 50. This condition results from excessive growth hormone secretion by the pituitary gland and typically manifests as significant growth, coarsening, and enlargement of organs such as the hands, feet, and face. It takes its name from the term "acromegaly," meaning "growth at the extremities," first described by the French Dr. Pierre Marie in 1886.

Treatment options include surgery, medication, or radiation therapy. However, delaying treatment can lead to serious organ and metabolic problems, such as heart failure. Therefore, early diagnosis of acromegaly is crucial.

Acromegaly is caused by an adenoma in the pituitary gland that oversecretes growth hormone in adults. Symptoms typically manifest as excessive growth and changes in organs. Early initiation of treatment is critical for managing this condition and minimizing adverse effects.

The main causes of acromegaly formation

The primary cause of acromegaly is a benign adenoma, usually arising from growth hormone-secreting cells located in the anterior pituitary gland. These adenomas may be called tumors, but they are generally not cancerous. Adenomas that cause acromegaly are usually large and are called macroadenomas. In recent years, rare genetic variants of the disease have been reported.

Acromegaly, when seen in at least two individuals in the same family, suggests a genetic factor. However, genetic factors generally play a rare role in the development of the disease. In most cases, the disease is associated with the formation of adenomas, and genetic transmission is very rare. Adenomas that cause acromegaly arise from cells in the pituitary gland that have lost their normal control mechanisms and secrete excessive amounts of growth hormone, causing abnormal growth in organs and tissues.

Acromegaly symptoms and effects

• Adenomas, which cause excess growth hormone in children, are known as gigantism when they appear before puberty, leading to uncontrolled height growth. The excess growth hormone secreted by the adenoma causes abnormal growth in connective tissue, cartilage, bone, and other organs in the body.
• Acromegaly in adults manifests as an early sign of the disease, characterized by enlargement of the soft tissue in the hands and feet. Over time, skin changes such as coarsening of facial features, pronounced brow ridges, protrusion of the lower jaw, enlargement of the nose, lips, and tongue, gaps between teeth, oily skin, thickened skin, excessive sweating, and changes in skin odor occur.
• Symptoms such as numbness or tingling in the hands (carpal tunnel syndrome), deepening of the voice, nasal congestion and snoring, fatigue, joint pain, headache, visual disturbances, menstrual irregularity, breast milk discharge, decreased sexual power and reluctance in men indicate the emergence of acromegaly.

Diagnosis and diagnosis of acromegaly disease

Because the disease's symptoms often develop very slowly, patients and their families may not notice them for years. Therefore, acromegaly is often diagnosed with a delay of 5-7 years on average. During this time, the pituitary tumor grows and often becomes a macroadenoma by the time it is diagnosed. Despite the appearance of acromegaly, laboratory tests are necessary for definitive diagnosis. During this period, it is important to consult a specialist endocrinologist for diagnosis and treatment planning.

The diagnostic process typically includes the following steps:

• Measuring Growth Hormone and IGF-1 Levels: Blood tests measure levels of growth hormone (GH) and insulin-like growth factor-1 (IGF-1). High levels may suggest acromegaly.
• Oral Glucose Tolerance Test (OGTT): In individuals without diabetes, a glucose tolerance test is used to evaluate whether GH is suppressed normally.
• Pituitary MRI: If laboratory results indicate acromegaly, a magnetic resonance imaging (MRI) scan is performed to obtain a detailed image of the pituitary gland. This helps determine the presence and size of an adenoma.
• Further Tests: In rare cases, if the adenoma cannot be detected or if the growth hormone is released from a mass outside the pituitary gland, the endocrinologist may request further tests.

The diagnostic process should be carried out under the guidance of a specialist endocrinologist and all necessary tests should be meticulously evaluated.

Acromegaly disease treatment methods

The first treatment option for acromegaly is pituitary surgery, which is usually performed in experienced centers. The primary goals of this surgery are to completely remove the adenoma, if possible, relieve pressure on surrounding tissues, and restore growth hormone (GH) levels in the blood to normal. This surgery, called transsphenoidal surgery (TSS), is usually performed through the nose using microscopic or endoscopic methods. The pituitary adenoma is accessed through the sphenoid sinus.

For patients whose adenomas cannot be completely removed surgically or whose GH levels remain elevated, medical treatment may be considered. These treatments include somatostatin analogs, dopamine agonists, and GH receptor antagonists. The patient's endocrinologist determines drug selection, dosage adjustments, and combinations when necessary.

For patients at high risk of anesthesia or in very advanced age, drug therapy may be the first choice. For patients who do not respond to drug therapy or who have very small adenoma remnants, radiation therapy may be considered.

During treatment, the patient is regularly monitored by an endocrinologist, and the treatment plan is personalized. This multidisciplinary approach is crucial to ensuring that patients with acromegaly receive the most effective and safe treatment.

What is the prevalence of acromegaly?

Acromegaly is diagnosed in 3 to 4 people per million people worldwide each year. While many acromegaly patients are being followed in many university and research hospitals in Turkey, the exact prevalence in our country is not yet known.

Can acromegaly be confused with other diseases?

Acromegaly usually presents with a typical presentation, but initially, patients may present with their symptoms to various clinics, including internal medicine, neurology, gynecology, and dentistry. This can lead to a delayed diagnosis and delayed treatment.

Can acromegaly be confused with other diseases?

Acromegaly usually presents with a typical presentation, but initially, patients may present with their symptoms to various clinics, including internal medicine, neurology, gynecology, and dentistry. This can lead to a delayed diagnosis and delayed treatment.

Reproductive ability and childbearing potential of patients with acromegaly

People with acromegaly can have children as long as their reproductive hormones are preserved. However, the chances of conceiving may sometimes decrease after surgery for large adenomas or after additional radiation therapy. Patients with this condition may need to supplement the missing hormones, which stimulate the pituitary gland's reproductive function, to conceive.

The importance of early diagnosis in acromegaly

Delaying treatment can lead to serious adverse effects of high growth hormone (GH) levels on other organs. These effects include uncontrolled blood sugar levels, high blood pressure, heart failure, and sleep apnea (sleep apnea syndrome). These conditions can shorten a patient's life expectancy. Therefore, early diagnosis and treatment of acromegaly are crucial.

Early diagnosis requires cardiological evaluation with an electrocardiogram ( ECG ) and echocardiography. Colonoscopy for colon polyps or tumors. Pulmonary function tests and sleep studies for sleep apnea syndrome evaluation. Thyroid ultrasound and, if necessary, needle biopsy of the nodule should be performed for thyroid cancer. Breast ultrasound and, if necessary, mammography for breast tumors in women. Urological examination for prostate tumors in men should also be performed. A careful evaluation should also be performed to exclude other rare tumors. Early diagnosis is a critical step in improving the patient's quality of life and minimizing adverse events.

Situations where acromegaly is suspected

• If your ring is too tight on your finger, your watch is too tight on your wrist, and your shoes are too tight on your feet,
• If your dentures do not fit your teeth and feel tight,
• If there are symptoms such as facial coarseness and gaps between the teeth,
• If your snoring and nasal congestion continue even after snoring and apnea surgery,
• If your friends or people around you think you have changed and grown bigger,
• If your blood sugar cannot be controlled despite the diet,
• If you have had wrist nerve compression surgery due to numbness in your hands,

If you experience one or more of these symptoms, it's strongly recommended that you consult an endocrinologist. Early diagnosis of acromegaly can allow for more effective treatment and reduce its adverse effects.