Fibrous Dysplasia and Precocious Puberty (McCune-Albright Syndrome)

Pd, Lester; Wh, McAlister

doi:10.1097/00007611-197905000-00039

Cited by 2 publications

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“…Sexual precocity is the most common and most carefully studied endocrine manifestation of this syndrome (1,8,9). Both this feature and the syndrome are more common in girls; the former is often manifested as menses preceding any other signs of puberty by several years (10). As many as one-third of the reported girls with this syndrome have had precocious sexual development as the initial sign (1).…”

Section: Discussionmentioning

confidence: 99%

McCune‐Albright Syndrome with Multiple Bilateral Cafe au Lait Spots

Roth

Esterly

1991

Pediatric Dermatology

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A 7-week-old infant developed hyperpigmented lesions at 5 days of age that gradually progressed to sharply demarcated, medium-brown macules of unusual configuration involving the neck, trunk, buttocks, upper arms, and right upper thigh. A biopsy specimen of a representative lesion showed changes of epidermal melanosis consistent with café au lait spot. At age 15 months the patient developed a limp. Roentgenographic evaluation showed widespread, bilateral changes of fibrous dysplasia, most severe in the right pelvis, femur, and tibia. At the present time he has no evidence of precocious puberty or other endocrinopathies. Despite the absence of endocrine abnormalities, these findings are consistent with a diagnosis of McCune-Albright syndrome with extensive bony and cutaneous lesions.

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Section: Discussionmentioning

confidence: 99%

McCune‐Albright Syndrome with Multiple Bilateral Cafe au Lait Spots

Roth

Esterly

1991

Pediatric Dermatology

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Clinical Implications of Genetic Defects in G Proteins: The Molecular Basis of McCune-Albright Syndrome and Albright Hereditary Osteodystrophy

1996

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Inactivating and activating mutations in the gene encoding G alpha s (GNAS1) are known to be the basis for 2 well-described contrasting clinical disorders, Albright hereditary osteodystrophy (AHO) and McCune-Albright syndrome (MAS). AHO is an autosomal dominant disorder due to germline mutations in GNAS1 that decrease expression or function of G alpha s protein. Loss of G alpha s function leads to tissue resistance to multiple hormones whose receptors couple to G alpha s. By contrast, MAS results from postzygotic somatic mutations in GNAS1 that lead to enhanced function of G alpha s protein. Acquisition of the activating mutation early in life leads to a more generalized distribution of the mosaicism and is associated with the classic clinical triad of polyostotic fibrous dysplasia, endocrine hyperfunction, and café au lait skin lesions described in MAS. Acquisition of a similar activating mutation in GNAS1 later in life presumably accounts for the restricted distribution of the gsp oncogene, and is associated with the development of isolated lesions (for example, fibrous dysplasia, pituitary or thyroid tumors) without other manifestations of MAS. Tissues that are affected by loss of G alpha s function in AHO are also affected by gain of G alpha s function in MAS, thus identifying specific tissues in which the second messenger cAMP plays a dominant role in cell growth, proliferation, or function. Further investigations of the functions of G alpha s and other members of the GTPase binding protein family will provide more insight into the pathogenesis and clinical manifestations of human disease.

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Fibrous Dysplasia and Precocious Puberty (McCune-Albright Syndrome)

Cited by 2 publications

References 0 publications

McCune‐Albright Syndrome with Multiple Bilateral Cafe au Lait Spots

McCune‐Albright Syndrome with Multiple Bilateral Cafe au Lait Spots

Clinical Implications of Genetic Defects in G Proteins: The Molecular Basis of McCune-Albright Syndrome and Albright Hereditary Osteodystrophy

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