Rx Endocrinology, Enzymes and Hormonal Diseases (A – Z)
Hormones and enzymes are distinct biological substances with different functions: hormones are chemical messengers released by endocrine glands to regulate various bodily processes by traveling through the bloodstream, while enzymes are protein catalysts produced by glands to speed up specific chemical reactions, often working at their site of production or within a duct system. The term “endocrine enzymes” is a misnomer; enzymes are catalysts, and hormones are chemical messengers, although some endocrine glands, like the pancreas, also produce exocrine enzymes for digestion in addition to endocrine hormones like insulin and glucagon.
Progressive cerebellar ataxia with hypogonadism is a very rare genetic brain and hormone disorder. It mainly affects the cerebellum (the part of the brain that controls balance and coordination) and ...
Luteinizing hormone-releasing hormone (LHRH) is the older name for gonadotropin-releasing hormone (GnRH). GnRH is made in the hypothalamus (a small control center in the brain) and it tells the ...
Cerebellar ataxia with hypogonadotropic hypogonadism means two main problems happen together. First, cerebellar ataxia: the cerebellum is the “balance and coordination” part of the brain, and when it ...
Cerebellar ataxia–hypogonadism syndrome is a rare, usually inherited condition where a person has cerebellar ataxia (poor balance and poor coordination because the cerebellum is not working well) ...
Pituitary diabetes insipidus is a water-balance problem where your body cannot make enough of a hormone called vasopressin (also called ADH). Vasopressin normally tells your kidneys to “save water” ...
Cranial diabetes insipidus is a condition where your brain does not make enough arginine vasopressin (AVP), also called antidiuretic hormone (ADH). AVP is a hormone that normally helps your kidneys ...
Central diabetes insipidus (often shortened to CDI) is a condition where your brain does not make enough of a hormone called vasopressin (also called ADH: antidiuretic hormone). Vasopressin is made ...
A hormonal tumor is a growth that makes and releases extra hormones. Hormones are chemical messengers. They are made by glands like the pituitary, thyroid, parathyroids, adrenals, pancreas, ovaries, ...
Excessive serotonin secretion means the body has too much serotonin in the wrong place or at the wrong time. Serotonin is a natural chemical that helps nerves communicate and also affects the gut and ...
Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome this triad sits on the spectrum of NKX2-1–related disorders, sometimes nicknamed brain–lung–thyroid (BLT) ...
Choreoathetosis and congenital hypothyroidism with pulmonary dysfunction also call it brain–lung–thyroid (BLT) syndrome or an NKX2-1–related disorder, because it is usually caused by a harmful change ...
Brain-Lung-Thyroid syndrome is a rare genetic condition that can affect the brain (movement control and development), the lungs (breathing), and the thyroid gland (hormone production). The main ...
Bangstad syndrome is a very rare inherited disorder. It affects growth, movement, hormones, and several body systems from birth. Babies are usually small before birth and remain small after birth. ...
Ataxia–diabetes–goiter–gonadal insufficiency syndrome—better known as Bangstad syndrome—is an extremely rare, inherited disorder first described in 1989. It combines problems with movement and ...
Hypothyroidism and cleft palate syndrome is a rare genetic condition in which a baby is born with an under-active or missing thyroid gland (congenital hypothyroidism) and a cleft in the roof of the ...
This condition is a genetic syndrome. Babies are born without a thyroid gland or with a very tiny thyroid (so they have congenital hypothyroidism). They also have a cleft palate (a split or opening ...
Familial infantile hypercalcemia (FIH) is a rare, inherited problem where a baby or young child has too much calcium in the blood (hypercalcemia) even though the parathyroid hormone (PTH) level is ...
Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic condition that starts at birth or soon after. The pancreas makes too much insulin even when blood sugar is low. Insulin ...
ABCC8-related congenital hyperinsulinism is a genetic condition where the pancreas makes too much insulin even when blood sugar is low. The extra insulin pushes sugar from the blood into body cells ...
Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic condition in which the pancreas makes too much insulin even when blood sugar is already low. “Autosomal recessive” means a ...
Autosomal-recessive hyperinsulinemic hypoglycemia from Kir6.2 (KCNJ11) deficiency is a rare genetic disorder where the beta-cells of the pancreas release too much insulin even when blood sugar is ...
KCNJ11-related congenital hyperinsulinism is a rare condition where a baby’s pancreas releases too much insulin. Insulin lowers blood sugar. When insulin is released in excess, a baby’s blood sugar ...
Pseudohypoaldosteronism (PHA) is a group of rare conditions where the body makes aldosterone normally (often in high amounts) but kidney or other tissues do not respond to it. Because the signal is ...
IGHD-II is a rare, inherited form of growth hormone (GH) deficiency. “Autosomal dominant” means a child can have the condition if they inherit a single changed copy of the responsible gene from ...
Autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency (IGHD type II) is a genetic condition where the pituitary gland does not make enough growth hormone (GH) even though ...
Autosomal dominant isolated somatotropin deficiency—often called isolated growth hormone deficiency type II (IGHD-II)—is a genetic condition where the pituitary gland makes too little growth hormone ...
Autosomal dominant hyperinsulinism from KCNJ11 (Kir6.2) loss-of-function means the potassium channels (called KATP channels) on the beta cells in the pancreas do not open normally. When these ...
Autoimmune Addison’s disease happens when your immune system mistakenly attacks the outer layer of your adrenal glands. The damaged glands can’t make enough cortisol (the stress and energy hormone) ...
Autoimmune primary adrenal insufficiency happens when your immune system mistakenly attacks your own adrenal glands (two small glands that sit on top of the kidneys). Over time, this attack damages ...
Autoimmune Polyglandular Syndrome Type 3 (APS-3) means a person has autoimmune thyroid disease (Hashimoto’s thyroiditis or Graves’ disease) together with at least one other organ-specific autoimmune ...
Autoimmune Polyendocrine Syndrome type 3 (APS-3) means a person has autoimmune thyroid disease (like Hashimoto’s or Graves’ disease) together with at least one other organ-specific autoimmune ...
Autoimmune polyendocrinopathy type 3 (APS-3) is a condition where the immune system mistakenly attacks the thyroid gland and at least one other organ, causing two or more autoimmune diseases to occur ...
Endocrine diseases are disorders of the endocrine system. The branch of medicine associated with endocrine disorders is known as endocrinology. Hormones are molecules that act as signals from one ...
Endocrine diseases are disorders of the endocrine system. The branch of medicine associated with endocrine disorders is known as endocrinology. Hormones are molecules that act as signals from one ...
Autoimmune polyglandular syndrome type 2 (APS-2) is a lifelong condition where the body’s immune system mistakenly attacks more than one hormone-making gland at the same time or over time. By ...
Autoimmune Polyendocrine (Polyglandular) Syndrome Type 2 (APS-2) is a lifelong immune system problem in which your body mistakenly attacks more than one hormone-making gland. The most important and ...
Autoimmune polyendocrinopathy type 2 (APS-2) is a condition where a person’s immune system mistakenly attacks more than one hormone-making gland at the same time. By definition, APS-2 includes ...
APECED Syndrome (autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy) MEDAC syndrome is an older, shorthand name used by some clinicians for the condition now best known as Autoimmune ...
Hypoparathyroidism–Addison disease–mucocutaneous candidiasis syndrome is most widely known as Autoimmune Polyendocrine/Polyglandular Syndrome type 1 (APS-1) or Autoimmune ...
Autoimmune Polyendocrinopathy Candidiasis-Ectodermal Dystrophy (APECED) is a rare disease that starts in childhood. It happens when a gene called AIRE does not work properly. AIRE’s normal job is to ...
Autoimmune polyendocrinopathy from AIRE mutation is a rare, inherited immune-system disease. It happens when a gene called AIRE (autoimmune regulator) does not work correctly. AIRE’s normal job is to ...
AIRE autoimmune polyendocrinopathy—the classic disorder caused by changes (variants) in the AIRE gene and widely known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) or ...
Autoimmune Polyendocrine Syndrome Type 1 (APS-1) is a rare genetic disease where the body’s immune system mistakenly attacks several hormone-producing glands and some non-hormone tissues. It usually ...
Athyreosis means a baby is born without any thyroid gland at all. Because the thyroid gland makes thyroid hormone, babies with athyreosis have primary congenital hypothyroidism from birth. Without ...
Hypogonadotropic hypogonadism—also called secondary hypogonadism—happens when the brain’s hormone signals are too weak to tell the gonads (testes or ovaries) to work. The hypothalamus usually ...
Glycosylasparaginase deficiency is a rare, inherited disease. It belongs to a group called lysosomal storage disorders. Lysosomes are tiny “recycling centers” inside our cells. They use special ...
Aspartylglucosaminidase (AGA) deficiency is a rare, inherited lysosomal storage disorder. The body lacks enough of an enzyme called aspartylglucosaminidase (AGA). This enzyme normally helps break ...
Aspartylglucosaminuria (AGU) is a rare, inherited condition in which a “recycling” enzyme inside cells—aspartylglucosaminidase (AGA)—does not work properly. Because of this enzyme problem, certain ...
Hereditary prepubertal gynecomastia means a boy develops true breast tissue before normal puberty because of an inherited (genetic) reason. The breast tissue is real gland tissue (not fat), it ...
Gynecomastia means a benign (non-cancer) growth of true breast gland tissue in a boy or a man. It happens when the balance between estrogen (which stimulates breast tissue) and androgens like ...
Familial hyperestrogenism is a rare inherited condition where the body makes too much estrogen, even when it should not. The main reason is that an enzyme called aromatase works too much. Aromatase ...
Aromatase Excess Syndrome (AEXS) is a rare, usually autosomal-dominant genetic condition where the body makes too much aromatase—the enzyme that turns androgens (male-type hormones) into estrogens ...
Turner syndrome (TS) is a genetic condition that only affects people who are born with a female body. It happens when all or part of one X chromosome is missing in body cells. This can be full loss ...
Congenital hypogonadotropic hypogonadism (CHH) is a lifelong condition present from birth in which the brain does not make, release, or properly signal with gonadotropin-releasing hormone (GnRH). ...
Estrogen insensitivity syndrome (EIS) is a very rare genetic condition where the body makes estrogen, but the body’s cells cannot “hear” estrogen’s message because the estrogen receptor—mainly a ...
Congenital estrogen deficiency means a person is born with a problem that keeps the body from making enough estrogen or from responding to estrogen normally. Estrogen is the hormone that helps the ...
Testicular feminization syndrome, now called androgen insensitivity syndrome (AIS), is a genetic condition that affects body sex development before birth and during puberty. The person has one X and ...
Morris syndrome is the old name for Complete Androgen Insensitivity Syndrome (CAIS), also called testicular feminization. A person with CAIS has the chromosomes 46,XY (typically associated with ...
Goldberg–Maxwell syndrome is an old name from a 1958 BMJ report describing three siblings with a disorder of sex development. Today, this same entity is understood as androgen insensitivity syndrome ...
Androgen Insensitivity Syndrome is a genetic condition where a person with one X and one Y chromosome (46,XY) makes typical amounts of male hormones (androgens) but the body’s cells cannot “hear” ...
Androgen resistance syndrome (AIS) is a genetic condition where the body’s cells cannot “hear” or respond fully to male-type hormones called androgens (like testosterone and dihydrotestosterone, ...
Aldosteronism means your body makes too much aldosterone, a salt-controlling hormone from the adrenal glands (small glands that sit on top of each kidney). Aldosterone tells the kidneys to hold on to ...
Advanced Sleep-Wake Phase Disorder is a body-clock (circadian) condition. In this disorder, the person’s internal clock runs earlier than normal. Because of this, sleepiness arrives very early in the ...
Thyroid Eye Disease (also called Graves’ orbitopathy or thyroid-associated ophthalmopathy) is an autoimmune condition where the body’s defense system mistakenly attacks the tissues around the eyes. ...
Multiple Endocrine Neoplasia (MEN) is a group of inherited (passed down in families) conditions that make certain hormone-producing glands grow abnormally. “Multiple” means more than one gland can be ...
The pituitary gland is a pea-sized “master gland” that sits in a bony pocket called the sella turcica at the base of the brain, just behind the bridge of the nose. When a benign (non-cancerous) tumor ...
Lymph node caseous granulomas can be a confusing and concerning condition for many people. But fear not! In this article, we'll break down everything you need to know about this condition in simple, ...
Heat exhaustion is a condition that occurs when the body overheats due to prolonged exposure to high temperatures and inadequate fluid intake. It is essential to recognize the signs and symptoms ...
Classic Galactosemia is a rare genetic disorder that affects how the body processes galactose, a sugar found in milk and dairy products. In this article, we'll provide simplified explanations for ...
Galactosemia is a rare genetic disorder that affects the way our bodies process a sugar called galactose, which is found in dairy products and some fruits and vegetables. People with galactosemia ...
Bullous Diabeticorum may sound like a complex medical term, but we'll break it down into simple language. This condition can affect people with diabetes, so it's essential to know what it is, its ...
Complement deficiency is a rare medical condition where the body's immune system lacks certain proteins called "complement proteins." These proteins play a crucial role in fighting off infections and ...
T-cells and B-cells are crucial components of our immune system, defending our bodies against infections and diseases. When these cells don't function properly, it can lead to health issues. In this ...
Lyme Afzelius' disease, also known as Lyme disease, is a common infectious disease caused by the bacterium Borrelia burgdorferi. This article provides simple and concise explanations of the various ...
Endocrinopathy is a medical term referring to a disease of the endocrine glands, which are responsible for secreting hormones in our body. Endocrinopathy refers to diseases related to the endocrine ...
Polyendocrinopathy is a condition where more than one endocrine gland (glands that produce hormones) in the body malfunctions, affecting hormone production.
Types of Polyendocrinopathy:...
Thyroid acropachy is a rare condition that affects the skin, fingers, and toes, often linked to thyroid problems. In this article, we will simplify the complex medical jargon and provide you with ...
SAHA syndrome, a relatively uncommon medical condition, can be perplexing to comprehend. In this simplified article, we will break down SAHA syndrome, elucidating its types, potential causes, ...
Seborrhea, acne, hirsutism, and alopecia are common skin and hair conditions that can affect people of all ages. In this article, we will provide simple and clear explanations of ...
Polycystic Ovarian Syndrome (PCOS) is a complex hormonal disorder that affects individuals with ovaries, typically during their reproductive years. It's a condition that can lead to various health ...
Adrenal Insufficiency, also known as SAHA Syndrome, is a medical condition that affects the adrenal glands, small organs located on top of your kidneys. These glands are responsible for producing ...
Persistent Adrenarche Syndrome (PAS) is a rare condition that affects children and adolescents, causing early and excessive production of hormones called androgens. These hormones are typically ...
Panhypopituitarism is a rare medical condition that affects the pituitary gland, a small but crucial gland located at the base of the brain. This gland plays a vital role in regulating various ...
Myxedema is a condition that affects the thyroid gland, which is located in your neck and plays a crucial role in regulating your body's metabolism. When the thyroid gland doesn't function properly, ...
Endocrine Wagenmann-Froboese syndrome is a rare medical condition that affects the endocrine system in the human body. In this article, we will provide simple explanations of what this syndrome is, ...
Multiple Mucosal Neuroma Syndrome (MMNS) is a rare genetic disorder that affects various parts of the body's mucosal tissues. It can lead to a range of symptoms and complications. In this article, we ...
Multiple Endocrine Neoplasia Type 2B, often abbreviated as MEN2B, is a rare genetic disorder that affects various glands in the body. In this article, we will break down the complex terminology and ...
Mucosal neuromata with endocrine tumors, also known as multiple endocrine neoplasia type 2B (MEN 2B), is a rare genetic disorder that affects various glands in the body. In this article, we will ...
Multiple Endocrine Neoplasia Type 3, often abbreviated as MEN3, is a rare genetic disorder that affects multiple endocrine glands in the body. In this article, we will break down MEN3 into simple ...
Endocrine Sipple Syndrome, also known as Multiple Endocrine Neoplasia Type 2 (MEN2), is a rare genetic disorder that affects the endocrine system. In this article, we will provide simple and clear ...
PTC syndrome, also known as Pseudotumor Cerebri or Idiopathic Intracranial Hypertension (IIH), is a medical condition that affects the brain and can lead to various symptoms. In this article, we will ...
Amyloid-producing medullary thyroid carcinoma (MTC) is a rare and complex condition that affects the thyroid gland. In this article, we'll provide simplified explanations of various aspects ...
Medullary Thyroid Carcinoma (MTC) is a rare type of thyroid cancer that affects the thyroid gland. In this article, we will break down everything you need to know about MTC, making it ...
Pheochromocytoma is a rare but potentially serious medical condition. In this article, we'll break down this complex term into simple, easy-to-understand language. We'll explore the types, causes, ...
Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare genetic disorder that affects the endocrine system, which regulates hormones in the body. In this article, we will provide simple, ...
Multiple Endocrine Neoplasia (MEN) is a rare group of genetic disorders that affect the endocrine system, which is responsible for producing hormones that regulate various bodily functions. In this ...
Wermer syndrome, also known as Multiple Endocrine Neoplasia Type 1 (MEN1), is a rare genetic disorder that affects the endocrine system. In this article, we will provide clear and concise information ...
Multiple Endocrine Neoplasia Type 1, commonly known as MEN1, is a rare genetic disorder that affects various hormone-producing glands in the body. This article provides a simplified explanation of ...
Leydig cell tumors are rare growths that develop in the testicles. These tumors can affect men of all ages, but they are most common in adulthood. In this article, we will explore Leydig cell tumors ...
Hyperthyroidism is a condition where your thyroid gland becomes overactive, producing an excessive amount of thyroid hormones. These hormones play a crucial role in regulating ...
Hypothyroidism is a common condition that affects the thyroid gland, a small butterfly-shaped gland in your neck. This gland plays a crucial role in regulating your body's metabolism. When it doesn't ...
Hypoparathyroidism is a rare medical condition where your body doesn't produce enough parathyroid hormone (PTH). This hormone plays a crucial role in regulating calcium levels in your body. When PTH ...
Hyperprolactinemia is a condition where the body produces too much prolactin, a hormone primarily responsible for lactation. SAHA, or suberoylanilide hydroxamic acid, is a medication used to treat ...
Hyperparathyroidism is a medical condition that affects the parathyroid glands, which are small glands located in your neck. These glands play a crucial role in regulating calcium levels in your ...
HAIR-AN syndrome is a rare medical condition that affects many aspects of a person's health, including their hormones, metabolism, and appearance. In this article, we will break down what HAIR-AN ...
Hyperandrogenism–insulin resistance–acanthosis nigricans syndrome, commonly referred to as HAIR-AN syndrome, is a complex medical condition that affects multiple systems in the body. This article ...
Growth hormone deficiency (GHD) is a medical condition that occurs when the body doesn't produce enough growth hormone, which plays a crucial role in growth and development. In this article, we will ...
Acanthosis nigricans Type II is a skin condition that can affect people of all ages. In this article, we will break down what it is, what causes it, its symptoms, how it's diagnosed, and the various ...
Familial Acanthosis Nigricans (FAN) is a rare genetic condition that affects the skin. In this article, we'll break down the key aspects of FAN in simple, easy-to-understand language. We'll cover ...
Ovarian SAHA Syndrome is a complex condition that affects the ovaries in women. It can lead to various health issues and discomfort. In this article, we'll break down everything you need to know ...
Excess Ovarian Androgen Release Syndrome, often abbreviated as EOARS, is a medical condition that affects the ovaries, leading to an overproduction of male hormones called androgens in women. This ...
Cushing's syndrome is a rare but complex medical condition that occurs when your body is exposed to high levels of the hormone cortisol for an extended period. Cortisol, often referred to as the ...
