mccune albright
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2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Bereket Fantahun ◽  
Seblewongel Desta

Background. McCune–Albright syndrome (MAS) is a rare heterogeneous genetic disorder that is characterized by a triad of polyostotic fibrous dysplasia (FD), café au lait spots (CAL), and multiple hyperfunctional endocrinopathies. In general, it is diagnosed clinically. From the triads, two of the findings are enough to make the diagnosis, but genetic testing can be done if it is available. Case Presentation. We report a female child who was symptomatic since the neonatal period with skin hyperpigmentation, breast enlargement, and vaginal bleeding. She was diagnosed with MAS at the age of five years. She had pathological fractures at multiple sites and had raised thyroid hormones since the age of 3½ years. The child developed severe morbidity as the result of delayed diagnosis and currently became wheelchair dependent. Conclusion. Thorough patient evaluation and appropriate interpretation of findings are crucial steps for timely diagnosis of MAS and better patient care outcomes.


2021 ◽  
Vol 4 (6) ◽  
pp. 24007-24014
Author(s):  
Hugo Carneio Rabelo Peres ◽  
João Paulo Resende ◽  
Fernando Antônio Monteiro Filho ◽  
Laysa Priscilla Carvalho Cabral ◽  
Sylvia de Sousa Genaro ◽  
...  

2021 ◽  
pp. 174239532110494
Author(s):  
Amanda Konradi

Objectives Fibrous dysplasia is a rare bone disorder that causes deformity, fractures, and pain that typically manifests in childhood and persists as a chronic illness. This study evaluates adult patients with fibrous dysplasia and McCune Albright syndrome to determine whether their quality of life differs from the general population and varies in relation to disease severity and lesion location. Methods This study uses data from the online self-report Fibrous Dysplasia Foundation Patient Registry and operationalizes quality of life using PRO measures: SF-36, Hospital Anxiety and Depression scale, Neuro-Quality of Life Stigma scale, and the Brief Pain Inventory. Results One hundred and ninety seven adults, 90% white, 84% women, constitute the sample. Mean scores for all SF-36 domains and the Neuro Q stigma scale were significantly below population benchmarks. A large minority registered moderate to severe levels of anxiety and depression. Group differences were not significant across most of the SF-36 domains but were associated with experienced stigma. Discussion This study demonstrates a social psychological impact of fibrous dysplasia on adults, in those with and without craniofacial involvement and with mild and severe forms of the disease. Clinical treatment should encompass assessment of quality of life issues and ensure access to psychosocial treatment resources for all fibrous dysplasia/McCune-Albright syndrome patients.


Author(s):  
Victor Garcia Neto ◽  
Hiram Larangeira de Almeida Jr ◽  
Claúdia Fernandes Lorea ◽  
Valéria Magalhães Jorge ◽  
Antônia Larangeira de Almeida

2021 ◽  
Vol 12 ◽  
Author(s):  
Xiao Zhai ◽  
Lian Duan ◽  
Yong Yao ◽  
Bing Xing ◽  
Kan Deng ◽  
...  

BackgroundMcCune-Albright syndrome is a rare disorder characterized by fibrous dysplasia, café au lait skin spots, and hyperfunctioning endocrinopathies. The coexistence of precocious puberty and growth hormone excess in McCune-Albright syndrome is rare. Both conditions can manifest as accelerated growth, and treatments can be more challenging for such patients. This study aimed to describe the clinical manifestations of combined GH excess and PP in the context of McCune-Albright syndrome and analyze the clinical features and treatments of these patients.MethodClinical data from 60 McCune-Albright syndrome patients from Peking Union Medical College Hospital were obtained. The demographic characteristics, growth hormone, insulin-like growth factor-1, prolactin, alkaline phosphatase, and sex hormone levels; growth velocity; and bone age data were obtained. The growth velocity Z-score, bone age over chronological age ratio, and predicted adult height Z-score were calculated before and after treatment. Published studies and case reports were systemically searched, and data on demographic, clinical, and biochemical characteristics and treatment outcomes were obtained.ResultsWe reviewed seven patients among 60 McCune-Albright syndrome patients at Peking Union Medical College Hospital (5 female) and 39 patients (25 female) from the published literature. Six of the seven patients from Peking Union Medical College Hospital and half of the patients from the published studies were pediatric patients. These patients had increased growth velocity Z-scores and bone age over chronological age ratios. After good control of both conditions, the growth velocity Z-score and bone age over chronological age ratio decreased significantly, and the predicted adult height Z-score increased. The final heights and predicted adult height Z-scores were not impaired in patients with gigantism. All the patients had craniofacial fibrous dysplasia associated with optic and otologic complications.ConclusionMcCune-Albright syndrome with growth hormone excess and precocious puberty is more common in girls. Patients have accelerated linear growth and advanced skeletal age, and early and good control of both conditions leads to a reduced growth velocity and stabilized bone age. The predicted adult and final heights are not negatively affected when growth hormone excess is diagnosed in pediatric patients.


2021 ◽  
Vol 7 (10) ◽  
pp. 100535-100544
Author(s):  
José Luiz Bravin Junior ◽  
Leandro Correa Siqueira ◽  
Edson Augusto Pracchia Ribeiro ◽  
Adymila Salim Moreira De Rezende ◽  
Victoria Tinoco Boechat ◽  
...  

2021 ◽  
Vol 1 (4) ◽  
Author(s):  
Konstantina Toutoudaki ◽  
George Paltoglou ◽  
Eleni Paschalidou ◽  
Ermioni Tsrana ◽  
Panagiotis Christopoulos

Precocious puberty can be distinguished in central, or peripheral, based on the presence or absence of the Hypothalamic- Pituitary- Gonadal axis activation. The pathogenesis of peripheral precocious puberty (PPP) is based mainly on excessive estrogenic exposure, either endogenous or exogenous. The congenital causes of PPP include McCune- Albright syndrome (MAS) and Congenital Adrenal Hyperplasia (CAH). The main causes of acquired PPP are oestrogen producing tumours, which are mainly of ovarian or adrenal origin, hypothyroidism and environmental oestrogens or substances with estrogenic function.


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