Females can present with vaginal bleeding and development of breast tissue. Males can present with testicular enlargement, appearance pubic and axillary hair, and increased body odor. [ncbi.nlm.nih.gov]

Called café-au-lait spots, these have irregular borders and may be present at birth. They appear on one side of the body. Early puberty. This is more common in girls than in boys. [chop.edu]

• Precocious Puberty

  Hormonally active tumors and congenital adrenal hyperplasia are other diagnostic considerations in patients presenting with precocious puberty. [ncbi.nlm.nih.gov]

  Diagnosis is classically confirmed by the presence of bone lesions or precocious puberty. We report a case of McCune-Albright syndrome diagnosed solely on the basis of the cutaneous signs. [hal.archives-ouvertes.fr]

• Weight Gain

  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]

  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]

  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. [medlineplus.gov]

  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]

  Some of the symptoms may include: obesity weight gain around the abdomen wasting of the limbs a hump of fat high on the back round, red and puffy face thin, easily bruised skin slow healing of skin wounds skin ulcers arrested growth in childhood. [betterhealth.vic.gov.au]

• 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]

  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]

  In addition to a significant decrease in vaginal bleeding, tamoxifen resulted in an improvement in growth velocity and bone age advancement [ 22 ]. [ojrd.biomedcentral.com]

• Cafe-Au-Lait Spots

  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]

  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]

  Links: precocious puberty cafe au lait spots true precocious puberty acromegaly Cushing's disease hyperthyroidism [gpnotebook.co.uk]

  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]

• 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]

  Physical Examination Her physical exam revealed a conscious, fully oriented female child, with feminine facies and body contour, antalgic gait, thyroid gland not enlarged, normal hair distribution, Marshall & Tanner stage: A0 P1 B3, There was no hirsutism [asean-endocrinejournal.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]

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]

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]

More effective treatment for FD is needed. The development of cell based and/or Gsα directed therapies may hold promise. The best treatment for PP is also not clear. [ojrd.biomedcentral.com]

Monitoring levels of serum phosphate and renal reabsorption of phosphate is also a recommendation.[7][8] Treatment / Management The mainstay treatment of gonadotropin-independent precocious puberty is aromatase inhibitors and more recently tamoxifen in [ncbi.nlm.nih.gov]

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]

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]

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]

Diagnosis and Prognosis: This complex disorder requires a multidisciplinary team for diagnosis and treatment. Therapy for different problems is specific and no single treatment is available for all aspects of McCune-Albright syndrome. [disorders.eyes.arizona.edu]

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]

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

Etiology The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP-regulating protein, Gs alpha. [orpha.net]

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

Prognostic Factors From an Epidemiologic Evaluation of Fibrous Dysplasia of Bone in a Modern Cohort: The FRANCEDYS Study. J Bone Miner Res. 2016 Dec;31(12):2167-2172. [PubMed: 27340799] [ncbi.nlm.nih.gov]

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]

Leprosy now: Epidemiology, progress, challenges, and research gaps. Lancet Infect Dis 2011;11:464-70. [ PUBMED ] 4. Pinheiro RO, de Souza Salles J, Sarno EN, Sampaio EP. [jgid.org]

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]

Objectives: Describe the pathophysiology of McCune-Albright syndrome. Explain the examination and evaluation strategies necessary to diagnose McCune-Albright syndrome. [ncbi.nlm.nih.gov]

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

The role of type 1 and type 2 5’-deiodinase in the pathophysiology of the 3, 5, 3’-triiodothyronine toxicosis of McCune-Albright syndrome. J Clin Endocrinol Metab 2008; 93: 2383-2389. Horvath A, Stratakis CA. [medigraphic.com]

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]

Bisphosphonates are helpful in relieving bone pain, but it is no longer believed that they prevent progression of the disease. [en.wikipedia.org]