BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuMcCune-Albright syndromePolyostotic fibrous dysplasiaMcCune-Albright syndrome is a genetic disease that affects the bones, hormones, and color (pigmentation) of the skin. Causes McCune-Albright syndrome is caused by mutations in the GNAS gene. A small number, but not all, of the person's cells contain this faulty gene (mosaicism).This disease is not inherited. Symptoms The main symptom of McCune-Albright syndrome is early puberty in girls. Menstrual periods may begin in early childhood, long before the breasts or pubic hair develop (which normally occur first). The average age that symptoms appear is 3 years old. However, puberty and menstrual bleeding have occurred as early as 4 to 6 months in girls.Early sexual development may also occur in boys, but not as often as in girls.Other symptoms include:Bone fractures Deformities of the bones in the face Gigantism GigantismGigantism is abnormal growth due to an excess of growth hormone (GH) during childhood.ImageRead Article Now Book Mark Article Irregular, large patchy café au lait spotsCafé au lait spotsA birthmark is a skin marking that is present at birth. Birthmarks include cafe-au-lait spots, moles, and Mongolian spots. Birthmarks can be red or...ImageRead Article Now Book Mark Article Exams and Tests A physical examination may show signs of:Abnormal bone growth in the skull Abnormal heart rhythms (arrhythmias) ArrhythmiasAn arrhythmia is a disorder of the heart rate (pulse) or heart rhythm. The heart can beat too fast (tachycardia), too slow (bradycardia), or irregul...ImageRead Article Now Book Mark Article Acromegaly AcromegalyAcromegaly is a condition in which there is too much growth hormone (GH) in your body.ImageRead Article Now Book Mark Article Gigantism Large cafe-au-lait spots on the skin Liver disease, jaundice, fatty liver Scar-like tissue in the bone (fibrous dysplasia) Fibrous dysplasiaFibrous dysplasia is a bone disease that destroys and replaces normal bone with fibrous bone tissue. One or more bones can be affected.ImageRead Article Now Book Mark Article Tests may show:Adrenal abnormalities AdrenalThe adrenal glands are two small triangle-shaped glands in the upper abdomen. One gland is located on top of each kidney.ImageRead Article Now Book Mark Article High level of parathyroid hormone (hyperparathyroidism) HyperparathyroidismHypoparathyroidism is a disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH).ImageRead Article Now Book Mark Article High level of thyroid hormone (hyperthyroidism) HyperthyroidismHyperthyroidism is a condition in which the thyroid gland makes too much thyroid hormone. The condition is often called overactive thyroid.ImageRead Article Now Book Mark Article Adrenal hormone abnormalities Adrenal hormoneThis test measures the levels of catecholamines in the blood. Catecholamines are hormones made by the adrenal glands. The three catecholamines are ...ImageRead Article Now Book Mark Article Low level of phosphorous in the blood (hypophosphatemia) HypophosphatemiaHypophosphatemia is a low level of phosphorus (phosphate) in the blood.ImageRead Article Now Book Mark Article Ovarian cysts Ovarian cystsAn ovarian cyst is a sac filled with fluid that forms on or inside an ovary. This article is about cysts that form during your monthly menstrual cycl...ImageRead Article Now Book Mark Article Pituitary or thyroid tumors PituitaryA pituitary tumor is an abnormal growth in the pituitary gland. The pituitary is a small gland at the base of the brain. It regulates the body's ba...ImageRead Article Now Book Mark Article Thyroid tumorsA thyroid nodule is a growth (lump) in the thyroid gland. The thyroid gland is located at the front of the neck, just above where your collarbones m...ImageRead Article Now Book Mark Article Abnormal blood prolactin level Blood prolactinProlactin is a hormone released by the pituitary gland. The prolactin test measures the amount of prolactin in the blood.Read Article Now Book Mark Article Abnormal growth hormone level Growth hormoneThe growth hormone test measures the amount of growth hormone in the blood. The pituitary gland makes growth hormone, which causes a child to grow. ...ImageRead Article Now Book Mark Article Other tests that may be done include:MRI of the head MRI of the headA head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...ImageRead Article Now Book Mark Article X-rays of the bones Genetic testing may be done to confirm the diagnosis. Treatment There is no specific treatment for McCune-Albright syndrome. Drugs that block estrogen production, such as testolactone, have been tried with some success.Adrenal abnormalities (such as Cushing syndrome) may be treated with surgery to remove the adrenal glands. Gigantism and pituitary adenoma will need to be treated with medicines that block hormone production, or with surgery.Cushing syndromeCushing syndrome is a disorder that occurs when your body has a high level of the hormone cortisol.ImageRead Article Now Book Mark Article Bone abnormalities (fibrous dysplasia) are sometimes removed with surgery.Limit the number of x-rays taken of affected areas of the body. Outlook (Prognosis) Lifespan is relatively normal. Possible Complications Complications may include:Blindness BlindnessBlindness is a lack of vision. It may also refer to a loss of vision that cannot be corrected with glasses or contact lenses. Partial blindness mean...ImageRead Article Now Book Mark Article Cosmetic problems from bone abnormalities Deafness DeafnessHearing loss is being partly or totally unable to hear sound in one or both ears.ImageRead Article Now Book Mark Article Osteitis fibrosa cystica Osteitis fibrosa cysticaOsteitis fibrosa is a complication of hyperparathyroidism, a condition in which overactive parathyroid glands cause certain bones to become abnormall...ImageRead Article Now Book Mark Article Premature puberty Repeated broken bones Tumors of the bone (rare) When to Contact a Medical Professional Contact your health care provider if your child starts puberty early, or has other symptoms of McCune-Albright syndrome. Genetic counseling, and possibly genetic testing, may be suggested if the disease is detected.Open ReferencesReferencesGaribaldi LR, Chemaitilly W. Disorders of pubertal development. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 578.Styne DM. Physiology and disorders of puberty. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 26.AllVideoImagesTogAnterior skeletal anatomy - illustration The skeleton is made up of 206 bones in the adult and contributes to the form and shape of the body. The skeleton has several important functions for the body. The bones of the skeleton provide support for the soft tissues. For example, the rib cage supports the thoracic wall. Most muscles of the body are attached to bones which act as levers to allow movement of body parts. The bones of the skeleton also serve as a reservoir for minerals, such as calcium and phosphate. Finally, most of the blood cell formation takes places within the marrow of certain bones.Anterior skeletal anatomyillustrationNeurofibromatosis - giant cafe-au-lait spot - illustration People with neurofibromatosis often have more than 6 light brown spots -- cafe-au-lait spots -- larger than 1.5 centimeters. This is a picture of a giant cafe-au-lait spot on a person with neurofibromatosis. Neurofibromatosis - giant cafe-au-lait spotillustrationAnterior skeletal anatomy - illustration The skeleton is made up of 206 bones in the adult and contributes to the form and shape of the body. The skeleton has several important functions for the body. The bones of the skeleton provide support for the soft tissues. For example, the rib cage supports the thoracic wall. Most muscles of the body are attached to bones which act as levers to allow movement of body parts. The bones of the skeleton also serve as a reservoir for minerals, such as calcium and phosphate. Finally, most of the blood cell formation takes places within the marrow of certain bones.Anterior skeletal anatomyillustrationNeurofibromatosis - giant cafe-au-lait spot - illustration People with neurofibromatosis often have more than 6 light brown spots -- cafe-au-lait spots -- larger than 1.5 centimeters. This is a picture of a giant cafe-au-lait spot on a person with neurofibromatosis. Neurofibromatosis - giant cafe-au-lait spotillustrationRelated Information Fibrous dysplasia(Condition)Birthmarks - pigmented(Condition)Blindness and vision loss(Symptoms)Hearing loss(Symptoms)Osteitis fibrosa(Condition) Review Date: 7/26/2022 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.
McCune-Albright syndromePolyostotic fibrous dysplasiaMcCune-Albright syndrome is a genetic disease that affects the bones, hormones, and color (pigmentation) of the skin. Causes McCune-Albright syndrome is caused by mutations in the GNAS gene. A small number, but not all, of the person's cells contain this faulty gene (mosaicism).This disease is not inherited. Symptoms The main symptom of McCune-Albright syndrome is early puberty in girls. Menstrual periods may begin in early childhood, long before the breasts or pubic hair develop (which normally occur first). The average age that symptoms appear is 3 years old. However, puberty and menstrual bleeding have occurred as early as 4 to 6 months in girls.Early sexual development may also occur in boys, but not as often as in girls.Other symptoms include:Bone fractures Deformities of the bones in the face Gigantism GigantismGigantism is abnormal growth due to an excess of growth hormone (GH) during childhood.ImageRead Article Now Book Mark Article Irregular, large patchy café au lait spotsCafé au lait spotsA birthmark is a skin marking that is present at birth. Birthmarks include cafe-au-lait spots, moles, and Mongolian spots. Birthmarks can be red or...ImageRead Article Now Book Mark Article Exams and Tests A physical examination may show signs of:Abnormal bone growth in the skull Abnormal heart rhythms (arrhythmias) ArrhythmiasAn arrhythmia is a disorder of the heart rate (pulse) or heart rhythm. The heart can beat too fast (tachycardia), too slow (bradycardia), or irregul...ImageRead Article Now Book Mark Article Acromegaly AcromegalyAcromegaly is a condition in which there is too much growth hormone (GH) in your body.ImageRead Article Now Book Mark Article Gigantism Large cafe-au-lait spots on the skin Liver disease, jaundice, fatty liver Scar-like tissue in the bone (fibrous dysplasia) Fibrous dysplasiaFibrous dysplasia is a bone disease that destroys and replaces normal bone with fibrous bone tissue. One or more bones can be affected.ImageRead Article Now Book Mark Article Tests may show:Adrenal abnormalities AdrenalThe adrenal glands are two small triangle-shaped glands in the upper abdomen. One gland is located on top of each kidney.ImageRead Article Now Book Mark Article High level of parathyroid hormone (hyperparathyroidism) HyperparathyroidismHypoparathyroidism is a disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH).ImageRead Article Now Book Mark Article High level of thyroid hormone (hyperthyroidism) HyperthyroidismHyperthyroidism is a condition in which the thyroid gland makes too much thyroid hormone. The condition is often called overactive thyroid.ImageRead Article Now Book Mark Article Adrenal hormone abnormalities Adrenal hormoneThis test measures the levels of catecholamines in the blood. Catecholamines are hormones made by the adrenal glands. The three catecholamines are ...ImageRead Article Now Book Mark Article Low level of phosphorous in the blood (hypophosphatemia) HypophosphatemiaHypophosphatemia is a low level of phosphorus (phosphate) in the blood.ImageRead Article Now Book Mark Article Ovarian cysts Ovarian cystsAn ovarian cyst is a sac filled with fluid that forms on or inside an ovary. This article is about cysts that form during your monthly menstrual cycl...ImageRead Article Now Book Mark Article Pituitary or thyroid tumors PituitaryA pituitary tumor is an abnormal growth in the pituitary gland. The pituitary is a small gland at the base of the brain. It regulates the body's ba...ImageRead Article Now Book Mark Article Thyroid tumorsA thyroid nodule is a growth (lump) in the thyroid gland. The thyroid gland is located at the front of the neck, just above where your collarbones m...ImageRead Article Now Book Mark Article Abnormal blood prolactin level Blood prolactinProlactin is a hormone released by the pituitary gland. The prolactin test measures the amount of prolactin in the blood.Read Article Now Book Mark Article Abnormal growth hormone level Growth hormoneThe growth hormone test measures the amount of growth hormone in the blood. The pituitary gland makes growth hormone, which causes a child to grow. ...ImageRead Article Now Book Mark Article Other tests that may be done include:MRI of the head MRI of the headA head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...ImageRead Article Now Book Mark Article X-rays of the bones Genetic testing may be done to confirm the diagnosis. Treatment There is no specific treatment for McCune-Albright syndrome. Drugs that block estrogen production, such as testolactone, have been tried with some success.Adrenal abnormalities (such as Cushing syndrome) may be treated with surgery to remove the adrenal glands. Gigantism and pituitary adenoma will need to be treated with medicines that block hormone production, or with surgery.Cushing syndromeCushing syndrome is a disorder that occurs when your body has a high level of the hormone cortisol.ImageRead Article Now Book Mark Article Bone abnormalities (fibrous dysplasia) are sometimes removed with surgery.Limit the number of x-rays taken of affected areas of the body. Outlook (Prognosis) Lifespan is relatively normal. Possible Complications Complications may include:Blindness BlindnessBlindness is a lack of vision. It may also refer to a loss of vision that cannot be corrected with glasses or contact lenses. Partial blindness mean...ImageRead Article Now Book Mark Article Cosmetic problems from bone abnormalities Deafness DeafnessHearing loss is being partly or totally unable to hear sound in one or both ears.ImageRead Article Now Book Mark Article Osteitis fibrosa cystica Osteitis fibrosa cysticaOsteitis fibrosa is a complication of hyperparathyroidism, a condition in which overactive parathyroid glands cause certain bones to become abnormall...ImageRead Article Now Book Mark Article Premature puberty Repeated broken bones Tumors of the bone (rare) When to Contact a Medical Professional Contact your health care provider if your child starts puberty early, or has other symptoms of McCune-Albright syndrome. Genetic counseling, and possibly genetic testing, may be suggested if the disease is detected.Open ReferencesReferencesGaribaldi LR, Chemaitilly W. Disorders of pubertal development. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 578.Styne DM. Physiology and disorders of puberty. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 26.