Type A insulin resistance syndrome
עודכן לאחרונה 19 יול 2023
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Type A insulin resistance syndrome is a rare disorder characterised by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. In people with type A insulin resistance syndrome, insulin resistance impairs blood glucose regulation and ultimately leads to a condition called diabetes mellitus, in which blood glucose levels can become dangerously high.
תיאור
Type A insulin resistance syndrome is a rare disorder characterised by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. In people with type A insulin resistance syndrome, insulin resistance impairs blood glucose regulation and ultimately leads to a condition called diabetes mellitus, in which blood glucose levels can become dangerously high.
Severe insulin resistance also underlies the other signs and symptoms of type A insulin resistance syndrome. In affected females, the major features of the condition become apparent in adolescence. Many affected females do not begin menstruation by age 16 (primary amenorrhea) or their periods may be light and irregular (oligomenorrhea). They develop cysts on the ovaries and excessive body hair growth (hirsutism). Most affected females also develop a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Unlike most people with insulin resistance, females with type A insulin resistance syndrome are usually not overweight.
The features of type A insulin resistance syndrome are more subtle in affected males. Some males have low blood glucose (hypoglycemia) as the only sign; others may also have acanthosis nigricans. In many cases, males with this condition come to medical attention only when they develop diabetes mellitus in adulthood.
Type A insulin resistance syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Donohue syndrome and Rabson-Mendenhall syndrome, are considered part of a spectrum. Type A insulin resistance syndrome represents the mildest end of the spectrum: its features often do not become apparent until puberty or later, and it is generally not life-threatening.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Diabetes mellitus, insulin-resistant, with acanthosis nigricans
Extreme insulin resistance with acanthosis nigricans, hirsutism and abnormal insulin receptors
Insulin resistance - type A
Insulin resistance syndrome, type A
Insulin-resistance syndrome type A
Insulin-resistant diabetes mellitus and acanthosis nigricans
Type A insulin resistance
Related patient information and medicines
Patient information leaflet
תסמונת השחלות הפוליציסטיות
Polycystic ovary syndrome (PCOS) is a metabolic condition that affects how the ovaries work. It can cause symptoms such as weight gain, excess hair growth, period problems, and can impact fertility. What is polycystic ovary syndrome (PCOS). Polycystic ovary syndrome (PCOS) is a medical condition that affects how the body regulates hormones. It can.
Patient information leaflet
סוכרת סוג 2
Type 2 diabetes can occur at any age, including during childhood, but it occurs mainly in people aged over 40. Insulin injections are needed in some cases. Ty... This is because in type 2 diabetes you still make insulin (unlike in type 1 סוכרת ). However, you develop type 2 diabetes because: You do not make enough insulin for your body's needs;.
Patient information leaflet
אינסולין
אינסולין מטופל? a hormone made naturally in the body by the pancreas. This hormone controls the level of sugar (glucose) in the blood. People who have type 1 diabetes need to have regular insulin injections. In type 1 diabetes, the body stops ma... Treatment with insulin is usually lifelong. What is insulin. Insulin is a hormone that is made by cells.
Patient information leaflet
תסמונת האכלה מחדש
תסמונת האכלה מחדש was first described in Far East prisoners after the second world war when they developed heart failure after starting to eat again after a prolonged period of starvation. תסמונת האכלה מחדש is a dangerous and life threatening shift of fluids and body salts (electrolytes) that can occur when malnourished patients receive.
Patient information leaflet
תסמונת קושינג
תסמונת קושינג מטופל? caused by too high a level of glucocorticoid in the body. This can be caused by taking steroid medication long-term (the common cause) or by the body making too much cortisol (the main glucocorticoid made by the body). There are various reasons why the body may produce too much cortisol, and complex tests may be needed to.
Patient information leaflet
סוכרת סוג 1
Type 1 diabetes is the type of diabetes that typically develops in children ו in young adults. In type 1 diabetes the body stops making insulin and the blood sugar (glucose) level goes very high. Treatment to control the blood glucose level is with insulin injections and a healthy diet. They include reducing blood pressure if it is high and.
קריאה נוספת והפניות
- Type A insulin resistance syndrome; MedlinePlus, National Library of Medicine.
- Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P. Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore). 2004 Jul;83(4):209-222. doi: 10.1097/01.md.0000133625.73570.54.
- Parker VE, Semple RK. Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know. Eur J Endocrinol. 2013 Sep 12;169(4):R71-80. doi: 10.1530/EJE-13-0327. Print 2013 Oct.
- Semple RK, Savage DB, Cochran EK, Gorden P, O'Rahilly S. Genetic syndromes of severe insulin resistance. Endocr Rev. 2011 Aug;32(4):498-514. doi: 10.1210/er.2010-0020. Epub 2011 May 2.
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