In this article Genetics Epidemiology Presentation Differential diagnosis Investigations Management Complications Prognosis McCune-Albright Syndrome In this article Genetics Epidemiology Presentation Differential diagnosis Investigations Management Complications [patient.info]

Thus, the presentation can be heterogenous, involving various endocrine and non-endocrine organs. It can be early or late onset or slow or quick evolution. [ijp.mums.ac.ir]

presenting with recurrent cysts and cyclic menses. [10] In boys presenting with acne, body odor, pubic hair and penile enlargement. [wikidoc.org]

The McCune–Albright syndrome is a rare condition of variable severity that typically presents in childhood and is characterized by the triad of fibrous dysplasia (FDP), endocrinopathy and café-au-lait spots. [endocrine-abstracts.org]

• Precocious Puberty

  The patient was diagnosed with central precocious puberty, and therefore went under treatment with GnRH agonists. [ijp.mums.ac.ir]

  The combination of precocious puberty-related premature epiphyseal fusion, FDP and hypophosphatemic osteomalacia (due to decreased reabsorption of phosphate by the renal tubule) can result in short stature. [endocrine-abstracts.org]

• Goiter

  The remaining 32 patients were euthyroid, even if 7 displayed sonographic alterations, of whom 5 had nodular goiter with nodules >1 cm, and 2 micronodular goiter. [ncbi.nlm.nih.gov]

  The thyroid gland, a butterfly-shaped organ at the base of the neck, may become enlarged (a condition called a goiter) or develop masses called nodules. [encyclopedia.pub]

  and 18 cases of hyperthyroidism without goiter. [liebertpub.com]

• Weight Loss

  Symptoms include a fast heart rate, high blood pressure, weight loss, tremors and sweating. The pituitary gland may produce too much growth hormone. [chop.edu]

  About 50 percent of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. [encyclopedia.pub]

  Symptoms include weight loss, tachycardia, tremor, sweating, and high blood pressure. A Cafe Au Lait Spot is a brown macula with jagged/irregular borders that is commonly seen on the lower back and buttocks. [picmonic.com]

  This further causes weight gain around face as well as mid-section and weight loss in arms and legs. Gigantism as a Result of McCune-Albright Syndrome: It occurs due to excess of growth hormone within the body. [epainassist.com]

• Weight Gain

  Cushing syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. In people with McCune-Albright syndrome, Cushing syndrome occurs only before age 2. [encyclopedia.pub]

  In infants, it may present with a low birth weight and poor weight gain. In older children, Cushing syndrome usually leads to poor growth and abnormal weight gain, especially in the face and trunk. [magicfoundation.org]

  gain, obesity of the face and trunk, skin fragility and cessation of growth in children Treatment: removal of adrenal glands or use of drugs that block cortisol synthesis Bone Disease (polyostotic fibrous dysplasia): Abnormal fibrous tissue growth in [en.wikibooks.org]

  It is characterized by excessive production of cortisol, resulting in slowed growth and weight gain in the face and upper body. Early mortality has been related to opportunistic infections. [picmonic.com]

  Symptoms include obesity of the face and body, weight gain, skin fragility, and stopping growth in childhood. Cushing’s syndrome is treated by removing the affected glands or with medicine. [houghton.moneomed.com]

• Weakness

  Fibrous dysplasia is a disorder where bone is replaced by fibrous tissue, leading to weak bones, uneven growth, and deformity. McCune-Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation. [en.wikipedia.org]

  This may result in fatigue, muscle weakness, poor appetite and constipation, but sometimes gives no symptoms at all. Occasionally more serious symptoms arise, such as excessive thirst, increased urine production and kidney stones. [socialstyrelsen.se]

  Hypophosphatemia can lead to bone pain, muscles weakness, and increased fractures. Hypophosphatemia is treated with a combination of oral phosphate supplements and vitamin D. [magicfoundation.org]

  Mild general malaise and fatigue after moderate exertion also occurred about this time, steadily increasing to profound generalized weakness. In November 1940 the patient suffered mild frequency of urination with nocturia. [jamanetwork.com]

• Failure to Thrive

  On clinical examination she presented failure to thrive, jaundice, hypertension, marked hypotonia and café-au-lait spots on her back and lower limbs. [ncbi.nlm.nih.gov]

  One notable exception is that the majority of MAS patients with Cushing syndrome demonstrated failure of both linear growth and weight gain (failure to thrive), in contrast to the excessive weight gain typically associated with cortisol excess. [academic.oup.com]

  Hyperthyroidism can cause severe failure to thrive in infants and young children … Sex: Gonadotropin independent precocious puberty is far more common in affected girls than in boys … Symptoms of an intracranial process, such as abrupt vision changes [ibis-birthdefects.org]

• Hypertension

  Because of the reported association of GNAS1 gene polymorphism with hypertension, our patient provides further evidence for a role of Gsalpha protein in hypertension. [ncbi.nlm.nih.gov]

  Systemic hypertension (systolic pressures 90 to 145mmHg, diastolic pressures 55 to 105mmHg) was confirmed. [jmedicalcasereports.com]

  Six of the 16 (38%) had cardiorespiratory complications including high output cardiac failure (n,3), hypertension (n,2) and one man with congestive cardiac failure and restrictive lung disease. [unboundmedicine.com]

• Tachycardia

  Symptoms include weight loss, tachycardia, tremor, sweating, and high blood pressure. A Cafe Au Lait Spot is a brown macula with jagged/irregular borders that is commonly seen on the lower back and buttocks. [picmonic.com]

  Nonendocrine abnormalities in this disorder include hypophosphatemia, chronic liver disease, tachycardia, and rarely sudden death, possibly from cardiac arrhythmias. [accessanesthesiology.mhmedical.com]

  In cases of tachycardia, the risk of cardiac rhythm problems may be increased (see below). - Acromegaly MAS is probably one of the primary causes of acromegaly in young children. [dysplasie-fibreuse-des-os.info]

  Tachycardia resulting from severe hyperthyroidism may complicate or trigger a cardiac event. Radioiodine ( 131 I) ablation or thyroidectomy treats hyperthyroidism effectively. [emedicine.medscape.com]

  The most common form of autonomous endocrine hyperfunction in this syndrome is gonadotropin independent precocious puberty … also have hyperthyroidism, hypercortisolism, pituitary gigantism, or acromegaly … hypophosphatemia, chronic liver disease, tachycardia [ibis-birthdefects.org]

• Arthritis

  This results in a condition called acromegaly, characterized by large hands and feet, arthritis, and coarse facial features. McCune-Albright syndrome is a genetic disorder caused by a random mutation of the gene, GNAS1. [chop.edu]

  Some individuals show an increased secretion of pituitary growth hormone which causes the coarsening of facial features, enlargement of hands and feet and arthritis. Less commonly, some affected individuals may have the features of Cushing syndrome. [contact.org.uk]

  Excess growth hormone can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as "coarse." [encyclopedia.pub]

  Other, more common types of inflammatory arthritis include: Ankylosing spondylitis Crystal arthritis, gout, calcium pyrophosphate deposition disease Juvenile rheumatoid arthritis (in children) Bacterial infections Psoriatic arthritis Reactive arthritis [mclaren.org]

• Large Hand

  This results in a condition called acromegaly, characterized by large hands and feet, arthritis, and coarse facial features. McCune-Albright syndrome is a genetic disorder caused by a random mutation of the gene, GNAS1. [chop.edu]

  Excess growth hormone can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as "coarse." [encyclopedia.pub]

  Other endocrine symptoms of McCune-Albright include: enlarged thyroid glands increased heart rates excessive sweating high blood pressure unintentional weight loss large hands and feet or rounded facial features caused by excessive growth hormones early-onset [healthline.com]

• Advanced Bone Age

  Skeletal survey showed dysplastic changes involving multiple bones and advanced bone age. Reports of MAS in a boy with unilateral macroorchidism are scarce. [ncbi.nlm.nih.gov]

  Imaging studies: Ultrasonography (ovarian cysts, nodular adrenal hyperplasia); skeletal radiography (widespread cystic bony lesions, advanced bone age, fractures and deformities of long bones, bony lesions in base of skull). [accessanesthesiology.mhmedical.com]

  If there is advanced bone age, frequent vaginal bleeding treatment is indicated. [hindawi.com]

  Precocious puberty may result in an advanced bone age, which could potentially limit growth potential and final adult height. Precocious puberty is more common in females than males with more than 50% of females experiencing precocious puberty. [rarediseases.org]

• Cafe-Au-Lait Spots

  I know cafe au lait spots can be associated with other diseases aswell. I'm feeling anxious about it an was just wondering if anybody else here has dealt with this sort of thing. [community.babycenter.com]

  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. [mountsinai.org]

  Your child’s doctor will conduct a complete physical examination to check for cafe-au-lait spots and other symptoms of McCune-Albright syndrome. [chop.edu]

  McCune-Albright syndrome ( MAS ) is a genetic disorder characterized by the association of: endocrinopathy: precocious puberty polyostotic fibrous dysplasia: more severe than in sporadic cases cutaneous pigmentation: coast of Maine ' cafe au lait ' spots [radiopaedia.org]

  Last reviewed 01/2018 Albright-McCune syndrome is characterised by: cafe au lait spots - more precisely Coast of Maine lesions, describing the less sharp edges of the patches cystic bone lesions - polyostic fibrous dysplasia precocious puberty other possible [gpnotebook.com]

• Sweating

  Symptoms include a fast heart rate, high blood pressure, weight loss, tremors and sweating. The pituitary gland may produce too much growth hormone. [chop.edu]

  About 50 percent of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. [encyclopedia.pub]

• Hirsutism

  At the age of 23 years, she was hospitalized for a virilization syndrome including hirsutism, acne, deepening of the voice, amenorrhea, and clitoromegaly. Serum levels of T were dramatically increased (1293 ng/dl; normal range, 10-80). [ncbi.nlm.nih.gov]

  A–C, Patient 6 as neonate with no clinical signs of cortisol excess (A); at age 3 months, with frequent infections and hirsutism of forehead (B); and at age 6 months, with resolved hirsutism (C). [academic.oup.com]

  There were no historical features of acromegaly and there were no obvious gross acromegalic features on examination, including frontal bossing, prognathism, macroglossia, skin tags, hyperhidrosis, or hirsutism. [touchendocrinology.com]

• Round Face

  Short stature, round face, shortened metacarpals and metatarsals, difficulty in walking. Orthopaedic care may be necessary for disability resulting from pathologic fractures and bony overgrowth. Varying degree of mental retardation. [whonamedit.com]

  In Carter's case, a Type Ia condition causes short stature, round face and short hand bones. Those common traits are often why many Albright's children can look uncannily similar. [abcnews.go.com]

  Albright Hereditary Osteodystrophy: Syndrome presenting with round face, short stature and neck, and obesity. Subcutaneous and intracranial calcifications, seizures, and neuromuscular problems such as fatigue and muscle cramps. [accessanesthesiology.mhmedical.com]

  If abnormal cells are found in the adrenal gland, excessive production of the important hormone cortisol may result, leading to abdominal obesity, a rounded face, restricted growth, brittle bones (osteoporosis), muscle weakness, high blood pressure and [socialstyrelsen.se]

  Clinical features of patients with Cushing syndrome Age at diagnosis (yr) Mean 0.5 Median 0.3 Range 0–3.7 Small for gestational age 15 (50.0) Clinical features at diagnosis Round face 20 (66.7) Failure to thrive 18 (60.0) Hypertension 10 (33.3) Hirsutism [academic.oup.com]

• Tremor

  Symptoms include a fast heart rate, high blood pressure, weight loss, tremors and sweating. The pituitary gland may produce too much growth hormone. [chop.edu]

  About 50 percent of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. [encyclopedia.pub]

  Symptoms include weight loss, tachycardia, tremor, sweating, and high blood pressure. A Cafe Au Lait Spot is a brown macula with jagged/irregular borders that is commonly seen on the lower back and buttocks. [picmonic.com]

• Confusion

  Dermatologists should recognize this disorder, given the possibility that these macules seen in MAS can be confused with neurofibromatosis, as in the case described here.Financial support None declared.Authors’ contributions Victor Garcia Neto: Approval [anaisdedermatologia.org.br]

  Typically diagnosed in adulthood Patients may satisfy criteria for both McCune-Albright syndrome and Mazabraud syndrome Hyperparathyroidism jaw tumor syndrome: Severe hyperparathyroidism from parathyroid adenoma or carcinoma Ossifying fibromas of jaw may be confused [pathologyoutlines.com]

  FD in the jaw may share several histological features with cemento ossifying fibromas, which can be confused with FD. The cemento ossifying fibroma lesions tend to behave more aggressively than do FD lesions. [ojrd.biomedcentral.com]

  Thyroid, 17(1): 73-76 [ PM ] [ EČ ][ GS ] Tesfaye, H., Cimermanova, R., Cholt, M., Sykorova, P., Pechova, M., Prusa, R. (2009) Subacute thyroiditis confused with dental problem. [scindeks.ceon.rs]

Other laboratory workup showed elevated alkaline phosphatase (388 U/l) with normal calcium, phosphorus, parathyroid hormone, and 25-hydroxy vitamin D levels. [jgid.org]

In the patient presented here, acromegaly was diagnosed as a result of the workup of an abnormal pituitary gland visualized on MRI. [touchendocrinology.com]

Diagnostic imaging modalities that may be considered include plain radiography, ultrasonography, computed tomography (CT), magnetic resonance imaging (MRI), and radionuclide bone scanning (as clinically indicated) (see Workup). [emedicine.medscape.com]

Patients were subjected to diagnostic workups, including endocrine profiling such as gonadotropin-releasing hormone stimulation test; imaging studies; bone mineral densitometry (BMD) via dual-energy X-ray absorptiometry; and metabolic assessments of the [pediatr-neonatol.com]

Clinical Testing and Workup A complete body survey should be performed for the characteristic cafe-au-lait spots, and x-ray studies should be combined with bone scans to evaluate the presence and extent of fibrous dysplasia. [rarediseases.org]

treatment options include medroxyprogesterone acetate, which is particularly useful for controlling menstrual bleeding. [patient.info]

The patient was diagnosed with central precocious puberty, and therefore went under treatment with GnRH agonists. [ijp.mums.ac.ir]

treatment is aimed to prevent bone age advancement. [3] For girls- Letrozole (aromatase inhibitor) and or tamoxifen (estrogen receptor modulator). [8] For boys- treatment options are not well established. [wikidoc.org]

Treatment will be directed toward your child’s specific symptoms. Because McCune-Albright syndrome is a complex disorder, your child’s treatment team may include pediatricians, orthopedists, endocrinologists and counselors. [chop.edu]

Prognosis The McCune-Albright syndrome was first described by Fuller Albright and Donovan McCune in 1937. [patient.info]

Diagnosis - McCune Albright syndrome Prognosis - McCune Albright syndrome The long-term outlook (prognosis) for people with McCune Albright syndrome (MAS) varies depending on the nature and severity of features in each affected person. [checkorphan.org]

Prognosis of McCune-Albright Syndrome The prognosis or outlook for McCune-Albright syndrome is relatively normal, as the rate of mortality is quite low for the condition. [epainassist.com]

RESULTS: Fifty-seven specific recommendations are provided as key points for the diagnosis, prognosis, and follow-up of patients with FD/MAS. [ncbi.nlm.nih.gov]

The etiology likely involved loss of hematopoetic marrow space and uncontrolled endocrinopathies. Splenectomy was therapeutic. [ncbi.nlm.nih.gov]

Genetic Etiology [ edit ] Mode of inheritance: Thought to be sporadic although there have been a few familial occurrences. [en.wikibooks.org]

[…] for fibrous dysplasia patients as it helps to diminish pain, prevents fracture and leads to partial resolution of fibrous dysplasia lesions. [16] Conclusion The precocious puberty can also be an early manifestation of McCune-Albright syndrome and the etiologic [ijp.mums.ac.ir]

In this article Genetics Epidemiology Presentation Differential diagnosis Investigations Management Complications Prognosis McCune-Albright Syndrome In this article Genetics Epidemiology Presentation Differential diagnosis Investigations Management Complications [patient.info]

Summary Epidemiology It is a rare disease with an estimated prevalence of between 1/100,000 and 1/1,000,000. [orpha.net]

Hormone research in paediatrics. 2015 [PubMed PMID: 26227563] [12] Benhamou J,Gensburger D,Messiaen C,Chapurlat R, Prognostic Factors From an Epidemiologic Evaluation of Fibrous Dysplasia of Bone in a Modern Cohort: The FRANCEDYS Study. [statpearls.com]

Epidemiology of McCune-Albright Syndrome The incidences of McCune-Albright syndrome are from one in hundred thousand to one in a million. Amongst the ailing patients, around seventy percent cases suffer from fibrous dysplasia of bone tissues. [epainassist.com]

Authors: Robert P Stanton, Ernesto Ippolito, Dempsey Springfield, Lynn Lindaman, Shlomo Wientroub and Arabella Leet View Full Text View PDF Content type: Proceedings View Full Text View PDF Content type: Proceedings Pathophysiology and medical treatment [ojrd.com]

Pathophysiology of McCune-Albright Syndrome The pathophysiology associated with McCune-Albright syndrome is due to the post zygotic mutation of activated GNAS1 gene. [epainassist.com]

Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am 2005; 87:1848-64. 12.Papadopoulou M, Doula S, Kitsios K, Kaltsas T, Kosta K. A boy with McCune-Albright syndrome associated with GH secreting pituitary microadenoma. [ijp.mums.ac.ir]

Abstract During the past decade, it has become clear that precocious puberty is a complex disorder with multiple pathophysiologic causes. [pediatrics.aappublications.org]

It is helpful to identify these early in children to prevent permanent deformities. [2] MRI There are no MRI findings associated with McCune-Albright syndrome. [wikidoc.org]

OBJECTIVE: The aim of the study was to determine whether early diagnosis and treatment of MAS-associated GH excess prevents optic neuropathy and hearing impairment, the major morbidities associated with GH excess. [ncbi.nlm.nih.gov]