Literature DB >> 10614538

McCune-Albright syndrome: a longitudinal clinical study of 32 patients.

C de Sanctis1, R Lala, P Matarazzo, A Balsamo, R Bergamaschi, M Cappa, M Cisternino, V de Sanctis, M Lucci, A Franzese, L Ghizzoni, A M Pasquino, M Segni, F Rigon, G Saggese, S Bertelloni, F Buzi.   

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.

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Year:  1999        PMID: 10614538     DOI: 10.1515/jpem.1999.12.6.817

Source DB:  PubMed          Journal:  J Pediatr Endocrinol Metab        ISSN: 0334-018X            Impact factor:   1.634


  6 in total

1.  Characterization and management of testicular pathology in McCune-Albright syndrome.

Authors:  Alison M Boyce; William H Chong; Thomas H Shawker; Peter A Pinto; W Marsten Linehan; Nisan Bhattacharryya; Maria J Merino; Frederick R Singer; Michael T Collins
Journal:  J Clin Endocrinol Metab       Date:  2012-06-28       Impact factor: 5.958

2.  Constitutive expression of Gsα(R201C) in mice produces a heritable, direct replica of human fibrous dysplasia bone pathology and demonstrates its natural history.

Authors:  Isabella Saggio; Cristina Remoli; Emanuela Spica; Stefania Cersosimo; Benedetto Sacchetti; Pamela G Robey; Kenn Holmbeck; Ana Cumano; Alan Boyde; Paolo Bianco; Mara Riminucci
Journal:  J Bone Miner Res       Date:  2014-11       Impact factor: 6.741

Review 3.  MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics.

Authors:  Marie Helene Schernthaner-Reiter; Giampaolo Trivellin; Constantine A Stratakis
Journal:  Neuroendocrinology       Date:  2015-01-09       Impact factor: 4.914

4.  A Case of Atypical McCune-Albright Syndrome with Vaginal Bleeding.

Authors:  Noushin Rostampour; Mahin Hashemipour; Roya Kelishadi; Silva Hovsepian; Ali Hekmatnia
Journal:  Iran J Pediatr       Date:  2011-09       Impact factor: 0.364

5.  Carney complex: Two case reports and review of literature.

Authors:  Shuang Li; Lian Duan; Feng-Dan Wang; Lin Lu; Zheng-Yu Jin
Journal:  World J Clin Cases       Date:  2018-11-26       Impact factor: 1.337

6.  Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome.

Authors:  Alexander O Vortmeyer; Sven Gläsker; Gautam U Mehta; Mones S Abu-Asab; Jonathan H Smith; Zhengping Zhuang; Michael T Collins; Edward H Oldfield
Journal:  J Clin Endocrinol Metab       Date:  2012-05-07       Impact factor: 5.958

  6 in total

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