McCune-Albright Syndrome: A Clinical Longitudinal Study of 32 Patients

Abstract

We report the diagnostic clinical features and their long term evolution in 32 patients with McCune-Albright syndrome. Patient data are made up of two periods: the first, classified as personal history, is from birth until the time when the diagnosis of McCune-Albright syndrome was made; the second, classified as clinical observation, is from the first observation until the end of follow up. The total duration of these two periods was 9.6+/-2.9 yr; mean age at first observation was 5.7 yr (range 0.7-11 yr). The probability of manifesting main clinical signs according to age was calculated: almost all had skin dysplasia at birth, 50% probability of peripheral precocious puberty in females at 4 years and 50% of bone dysplasia at 8 years of age were found. Other clinical signs had diagnostic relevance when preceding the main signs leading to diagnosis of McCune-Albright syndrome even without specific genetic investigation. The most important clinical manifestations have different evolutions: skin lesions increase in dimensions according to body growth; precocious puberty in females evolves rapidly but periods of regression can be seen in some patients; bone dysplasia in most patients evolves with an increase both in the number of affected bones and in the severity of lesions.

MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics

“…MAS is a genetic but not hereditary condition caused by somatic, postzygotic mutations in the α-subunit of the G s protein (GNAS), leading to somatotrope or somatolactotrope hyperplasia and growth hormone (GH) hypersecretion in approximately 20% of patients [3, 31, 32]. Inactivating germline mutations in AIP were recently discovered to be the genetic cause in about 20% of FIPA patients [33].…”

“…These patients have mostly somatotropinomas or prolactinomas (and sometimes non-functioning pituitary adenomas and rarely corticotropinomas), and no other recurrent clinical manifestations [33, 34]. MAS, FIPA due to AIP mutations and their contribution to pituitary pathology are described in detail elsewhere [3, 31–34]. …”

Characterization and Management of Testicular Pathology in McCune-Albright Syndrome

“…The clinical course has been relatively well described (7)(8)(9)(10), and relatively effective treatment options are available (11,12). In contrast, the impact of testicular G s ␣ mutations is inadequately described.…”

McCune-Albright Syndrome (MAS): Early and Extensive Bone Fibrous Dysplasia Involvement and “Mistaken Identity” Oophorectomy

“…The most frequent and usually the first endocrine feature is GIPP 15,16 , and the autonomous ovarian function may persist well into adulthood 17,18 . In fact, menstrual bleeding under 2 years of age has been the first symptom of MAS in 85% of patients 1 .…”