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]

• 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]

• Limb Pain

  We report the case of a 24-year-old woman who presented with right lower limb pain, with no preceding trauma or fracture. [casereports.bmj.com]

  In her last visit at the age of 7.5, she weighed 33 kgs, with a height of 127cm, and her BMI was 20.4 kg/m².puberty development was under control and lower limb pain had remitted significantly. [ijp.mums.ac.ir]

• 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]

• Hirsutism

  The pattern of terminal hair on the skin following the administration of the drug and the exclusion of other causes suggested tamoxifen-induced hirsutism. [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]

• Macula

  […] and hyperfunctional endocrine glands. [1,2] The disorder is more common in females [3], It is a rare disease with an estimated prevalence between 1/100,000 and 1/1,000,000. [4] The café-au-lait skin pigmentation consist of large hypermelanostic maculae [ijp.mums.ac.ir]

  […] hyperfunctional endocrinopathies. 2,3 The syndrome has a female predilection 1 with an estimated prevalence between 1/100,000 and 1/1,000,000.4 The most easily visually assessed feature is café-au-lait skin pigmentation characterized by hyperpigmented maculae [asean-endocrinejournal.org]

  A Cafe Au Lait Spot is a brown macula with jagged/irregular borders that is commonly seen on the lower back and buttocks. It presents unilaterally in McCune Albright Syndrome. [picmonic.com]

  The café-au-lait skin pigmentation consists of large hypermelanotic maculae of irregular and serpiginous (coast of Maine) borders, which occur mainly on the front, posterior area of the neck, buttocks, thorax, back, shoulder and pelvis (7). [scielo.br]

• 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]

• Leg Pain

  […] 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 Presentation is variable 1 : leg [radiopaedia.org]

  An adolescent boy initially presented to an orthopedic surgeon at age 4 years with right leg pain and a limp. A bone scan and skeletal survey at that time revealed fibrous dysplasia of the cranium, ribs, bilateral arms, and right femur and tibia. [jamanetwork.com]

• Suggestibility

  The skeletal radiographs showed multiple bone lesions which were suggestive of polyostotic fibrous dysplasia. These findings were sufficient to establish the diagnosis of McCune-Albright syndrome. [ncbi.nlm.nih.gov]

  Radiology Findings Bone X-ray was suggestive of fibrous dysplasia (Figure 2). The radiologic report of the upper extremities also showed lesions of FD. Her bone age was 12 years. [hindawi.com]

• Enlarged Uterus

  Pelvic ultrasound showed an enlarged uterus and a follicle cyst (13 mm) in the left ovary. Bone scintigraphy showed osteogenic lesions on the skull, humerus, tibia, and acetabulum. [ncbi.nlm.nih.gov]

  An enlarged uterus with an endometrial thickening with no evidence of ovarian cyst may also be noted (30, 31). The resolution of the cysts is followed by estrogen withdrawal with the subsequent vaginal bleeding and regression of uterine size (31). [frontiersin.org]

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]