FAQs - Thyroid Gland, Parathyroid, Adrenal & Genetic Syndromes

The thyroid gland is a small, butterfly-shaped organ located in the neck. It produces hormones (T3 and T4) that regulate the body's metabolism, energy levels, and other essential functions.

Common thyroid diseases include hypothyroidism (underactive thyroid), hyperthyroidism (overactive thyroid), and thyroid nodules. Autoimmune conditions like Hashimoto's thyroiditis and Graves' disease can also affect the thyroid.

Thyroid diseases can result from various factors, including genetics, autoimmune disorders, iodine deficiency, inflammation, and certain medications.

Common symptoms of hypothyroidism include fatigue, weight gain, cold sensitivity, dry skin, brittle nails, constipation, and depression.

Symptoms of hyperthyroidism include weight loss, increased appetite, rapid heartbeat, anxiety, irritability, heat intolerance, and difficulty sleeping.

Thyroid diseases are often diagnosed through blood tests measuring thyroid hormone levels (TSH, T3, T4) and sometimes imaging studies like ultrasound or a radioactive iodine uptake test.

Treatment depends on the specific thyroid disorder. Hypothyroidism is often managed with synthetic thyroid hormone replacement, while hyperthyroidism may be treated with medications, radioactive iodine therapy, or surgery.

Yes, thyroid imbalances can impact fertility. Both hypothyroidism and hyperthyroidism can disrupt the menstrual cycle and affect ovulation, making it important for individuals trying to conceive to manage their thyroid health.

While some thyroid diseases have genetic or autoimmune components that may not be preventable, maintaining a balanced diet with sufficient iodine, avoiding excessive iodine intake, and managing stress can contribute to thyroid health.

The management of thyroid diseases often involves lifelong treatment, but in some cases, such as certain types of hyperthyroidism, treatments like radioactive iodine therapy or surgery may offer a potential cure.

There is a genetic predisposition to some thyroid disorders, particularly autoimmune conditions like Hashimoto's thyroiditis and Graves' disease.

Yes, certain nutrients like iodine and selenium are essential for thyroid function. However, excessive iodine intake can be detrimental, especially for those with thyroid conditions.

A thyroid nodule is a lump in the thyroid gland. While most nodules are benign, some can be cancerous. Evaluation may include imaging studies and, if necessary, a biopsy.

At the Los Angeles Center for Endocrine Surgery, the entire parathyroidectomy procedure usually takes less than 30 minutes. This includes removal of the parathyroid adenoma, checking the other normal parathyroid glands, and making sure the PTH level drops.

In most cases the entire parathyroid gland is abnormal and needs to be removed.

Yes. The other parathyroid glands take over the function and produce the parathyroid hormone the body needs.

Usually in this case, a subtotal parathyroidectomy is performed with removal of 3.5 glands.

The parathyroid glands develop from a little pouch in the throat region and then migrate down to their typical position in the neck, behind the thyroid. They may migrate lower or higher in an individual person, which can make them harder to find. Usually, we have some clue of their location based on preoperative imaging. Regardless, the parathyroid glands have certain anatomic relationships to the surrounding structures based on their early development in the womb.

Usually not. Due to the small and delicate structures in the neck, including the parathyroid glands and the vocal cord nerves, it is important for a patient to be completely asleep during the surgery so they don ’t move. Any small movement during the surgery could increase the risk of complications. This requires general anesthesia.

An experienced, high-volume parathyroid surgeon can distinguish between a normal and abnormal parathyroid gland based on its appearance - size, shape, and color.

1. The abnormal parathyroid gland has been removed.
2. The other 3 parathyroid glands are visually inspected and confirmed to be normal.
3. Intraoperative PTH monitoring: The PTH level is checked in the operating room before the patient is woken up. It should drop by at least half.

At the Los Angeles Center for Endocrine Surgery, we use all 3 methods in every case to ensure a successful operation.

The surgeon should have a dedicated interest and experience in parathyroidectomy. This may include fellowship training, such as in Endocrine Surgery. They should have a high-volume parathyroid practice, performing at least 50 parathyroidectomies per year. At the Los Angeles Center for Endocrine Surgery, all of our surgeons are fellowship-trained and high-volume parathyroid surgeons. We have a robust Distance and Telemedicine Program for patients wishing to travel to Los Angeles for their parathyroidectomy. The American Association of Endocrine Surgeons website can also be used to find high-volume endocrine surgeons in your area.

The adrenal glands are small, triangular-shaped glands located on top of each kidney. They produce hormones, including cortisol, aldosterone, and adrenaline, which play vital roles in regulating metabolism, blood pressure, and the body's stress response.

Common adrenal disorders include Addison's disease (adrenal insufficiency), Cushing's syndrome (excess cortisol), adrenal adenomas (benign tumors), and pheochromocytoma (a rare tumor that produces adrenaline).

Symptoms vary depending on the specific disorder but may include fatigue, weight changes, changes in blood pressure, abdominal pain, and disturbances in electrolyte balance.

Treatment involves hormone replacement therapy to replace the deficient hormones, typically with glucocorticoids (such as hydrocortisone) and mineralocorticoids (such as fludrocortisone).

Cushing's syndrome is often caused by prolonged exposure to high levels of cortisol, either due to the body producing too much cortisol (endogenous) or through the use of corticosteroid medications (exogenous).

Diagnosis involves blood tests to measure cortisol levels, imaging studies (such as CT or MRI) to identify abnormalities in the adrenal glands, and sometimes additional tests like the dexamethasone suppression test.

While most adrenal tumors are benign, some can be cancerous. The nature of the tumor is often determined through imaging studies and, if necessary, a biopsy.

Pheochromocytoma is a rare tumor that produces excess adrenaline. Symptoms may include high blood pressure, rapid heart rate, headaches, sweating, and anxiety.

Treatment involves surgical removal of the tumor. Medications to control blood pressure and symptoms may be used before surgery.

Chronic stress can contribute to adrenal fatigue, a controversial concept characterized by a perceived decrease in adrenal function. However, it's essential to note that the medical community does not widely recognize adrenal fatigue as a distinct medical condition.

Diagnosis involves a combination of blood tests, imaging studies (CT, MRI), and sometimes functional tests to assess adrenal hormone production.

Adrenal surgery, also known as adrenalectomy, is a medical procedure designed to address issues related to the adrenal glands. At the Los Angeles Center for Endocrine Surgery, adrenal surgery is usually performed laparoscopically through the front ( “transperitoneal”) or the back ( “retroperitoneal”), using small incisions with specialized equipment and a video camera. In most cases the entire affected adrenal gland is removed. 

Yes, adrenal disorders, particularly those affecting cortisol levels, can impact fertility. Proper management and treatment with the guidance of healthcare professionals are crucial for individuals trying to conceive.

Genetic endocrine syndromes are human diseases characterized by the growth of tumors in the endocrine (hormone-secreting) glands of the body. These syndromes arise from germline mutations that are passed on from parent to child. The tumors that grow are usually benign, but some may be malignant (cancerous). Genetic endocrine syndromes include conditions like Multiple Endocrine Neoplasia (MEN) syndromes, familial medullary thyroid carcinoma (FMTC), and familial pheochromocytoma/paraganglioma syndrome.

Multiple Endocrine Neoplasia (MEN) syndromes are rare inherited disorders characterized by the development of tumors in multiple endocrine glands. There are three main types: MEN1, MEN2A, and MEN2B, each associated with specific genetic mutations and tumor types.

• MEN1 is associated mutations in the menin tumor suppressor gene. MEN1 is characterized by tumors of the pituitary gland, parathyroid glands, and endocrine pancreas (commonly known as the “three P ’s”).
• MEN2A is associated with mutations in the RET proto-oncogene. Patients with MEN2A have a high rate of developing medullary thyroid cancer. Medullary thyroid cancer in MEN2A patients is frequently slow growing and may be discovered late in life. Other endocrine conditions occurring in MEN2A patients include pheochomocytoma and hyperparathyroidism, which occur in less than half of patients. MEN2A displays a strong genotype-phenotype correlation, meaning that the specific mutation within the RET proto-oncogene influences the course of disease in a given patient.
• MEN2B is associated with mutations in the RET proto-oncogene. MEN2B differs from MEN2A in that MEN2B is characterized by aggressive, often early onset medullary thyroid cancer as well as other features such as marfanoid body habitus (long arms and legs), macrognathia (a prominent jaw), and mucosal neuromas (small benign swellings in the mouth/tongue). Patients discovered to have MEN2B are often recommended to undergo thyroidectomy in childhood.

Congenital Adrenal Hyperplasia (CAH) refers to a group of genetic disorders affecting the adrenal glands' ability to produce cortisol and aldosterone. It is most commonly caused by mutations in genes involved in cortisol synthesis, such as the CYP21A2 gene.

McCune-Albright syndrome is a rare genetic disorder characterized by the presence of abnormal bone development, skin pigmentation patches (cafe-au-lait spots), and endocrine abnormalities such as precocious puberty and excess hormone production from the affected glands.

Diagnosis rests on clinical suspicion, followed by hormone testing (blood and sometimes urine), biopsy of affected glands, and genetic testing. MEN1 is usually suspected when tumors develop in 2 of the 3 target organs, most often parathyroid + pituitary or parathyroid + pancreas. MEN2 and FMTC must be suspected in all patients with medullary thyroid cancer, as 25% of all medullary thyroid cancers are caused by an underlying genetic syndrome. Similarly, all patients with pheochromocytoma or paraganglioma are now recommended to undergo genetic testing, as research completed since 2005 has demonstrated that about half of all patients with pheochromocytoma or paraganglioma carry germline mutations. Patients who develop pheochromocytoma/paraganglioma early in life are very likely to carry germline mutations. The list of mutations causing pheochromocytoma/paraganglioma has now grown quite long, and includes MEN2, Von Hippel-Lindau (VHL), neurofibromatosis type 1 (NF1), succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD), TMEM127, MAX, AND HIF-2a. Genetic testing is accomplished with a blood test that takes a few weeks to return. Genetic counseling with one of our human genetics staff is often recommended in order to gather a complete family history, identify relatives at risk, and perform a focused set of genetic tests that are deemed most likely to yield an informative result.

Yes, all genetic endocrine syndromes can be treated, though as of now none are entirely curable. Treatment varies depending on the specific disorder and its symptoms. Management may involve careful monitoring with hormone tests and scans, medications to control hormone levels, surgery to remove tumors or affected glands, hormone replacement therapy, and other supportive measures. Often, the hardest part of caring for patients with genetic endocrine syndromes is figuring out the best timing for surgery. Surgery should ideally performed early enough to avoid complications of hormone excess and progression/spread of malignant (cancerous tumors), yet no so early as to deprive the patient of an entirely or partially functioning organ. This balance can often be challenging to achieve. Above all, caring for patients with genetic endocrine syndromes must involve a long-term vision and strategy rather than simply performing individual procedures in isolation. We liken this journey to a game of chess, where the strategy for each patient is planned many moves in advance.

Yes, genetic endocrine syndromes are hereditary, meaning that they are passed from parent to child through germline mutations. Most genetic endocrine syndromes are autosomal dominant, meaning that they (a) affect about half of children from parents with the disease, (b) do not skip generations, and (c) affect males and females in equal numbers. Genetic endocrine syndromes are variably penetrant, meaning that just because you carry the mutation, there isn ’t a 100% chance that you will develop an endocrine tumor. Examples of this include:

• MEN1 is highly penetrant, with the majority of patients developing hyperparathyroidism by age 20-30.
• MEN2 is highly penetrant in that almost all patients will develop medullary thyroid cancer at some point in their lives. However, because of genotype-phenotype correlation, some tumors occur early and grow quickly, whereas others may occur after age 50 and grow slowly.
• The penetrance of inherited pheochromocytoma/paraganglioma is variable. By age 50, the percentage of patients developing these tumors is 50% for MEN2A/MEN2B, 30% for SDH mutations, 10-20% for Von Hippel-Lindau, and 1% for neurofibromatosis type 1.

Yes, genetic counseling can be beneficial for individuals and families affected by genetic endocrine syndromes. It provides information about the condition, its inheritance pattern, genetic testing options, and guidance on family planning and risk assessment.

Yes, there are various support groups and organizations dedicated to providing resources, information, and support to individuals and families affected by genetic syndromes and rare endocrine diseases. These groups can offer valuable peer support, education, and advocacy.

Yes, regular medical surveillance in the form of hormone testing and scans is often necessary to monitor disease progression, hormone levels, and the effectiveness of treatment. This helps in managing symptoms, preventing complications, and adjusting treatment plans as needed. Both physicians and patients must be diligent in following through with monitoring to ensure the best possible health across the lifespan.