A case of polyostotic fibrous dysplasia, cutaneous pigmentation, and a bifid ureter is presented. The need for urinary tract investigation in McCune-Albright's syndrome is stressed.
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Improved Molecular Diagnosis of McCune-Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR.
Front Genet
September 2019
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
McCune-Albright syndrome (MAS) is a rare congenital disorder characterized by the association of endocrine and nonendocrine anomalies caused by somatic activating variants of . The mosaic state of variants makes the clinical presentation extremely heterogeneous depending on involved tissues. Biological samples bearing a low level of mosaicism frequently lead to false-negative results with an underestimation of causative molecular alterations, and the analysis of biopsies is often needed to obtain a molecular diagnosis.
View Article and Find Full Text PDFGigantism in a McCune-Albright's syndrome with calcified GH-releasing pituitary adenoma: Case report and literature review.
Int J Surg Case Rep
October 2018
Neurosurgery Department, National Institute of Neurology and Neurosurgery "Manuel Velasco Suárez", Mexico City, Mexico.
Background: McCune-Albright's syndrome (MAS) is a rare disorder that is characterized by café-au-lait macules, fibrous dysplasia of the skull and endocrinopathies like excessive secretion of growth hormone by a hyper-functional pituitary adenoma (PA).
Case: We describe the case of a 43-year-old male with history of Gigantism in 1990 secondary to a GH-secreting pituitary macroadenoma that was treated via microscopic transsphenoidal surgery at that time. He was reported as asymptomatic for 26 years until he developed headache and right temporal hemianopia with left amaurosis.
Lower limbs deformities in patients with McCune-Albright syndrome: Tomography and treatment.
Afr J Paediatr Surg
October 2017
Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.
Background: The skeletal changes in McCune-Albright disease are usually severe because of the polyostotic form of the disease. Trendelenberg gait and limited mobility are the most common presenting features. The constellation of Café-au lait spots and polyostotic bone involvement is commonly referred to as McCune-Albright's syndrome (MAS).
View Article and Find Full Text PDFA Case of Primary Hypogonadism with Features of Albright's Syndrome.
J Reprod Infertil
August 2016
Department of Endocrinology, Mission Hospital, Durgapur, West Bengal, India.
Background: McCune Albright syndrome is rare with an estimated prevalence of 1 in 100,000 to 1 in 1,000,000 persons. The classical clinical triad consists of fibrous dysplasia of the bone, café-au-lait skin spots and precocious puberty. However, in rare cases, there may be primary hypogonadism and amenorrhea.
View Article and Find Full Text PDF[Pathogenesis of adrenocortical cancer].
Orv Hetil
July 2010
Semmelweis Egyetem, Altalános Orvostudományi Kar, II. Belgyógyászati Klinika, Budapest.
Adrenocortical cancer is a rare tumor with poor prognosis. Whereas most cases occur in a sporadic setting, there are very rare hereditary forms that are important for the understanding of tumor pathogenesis. The hereditary syndromes associated with adrenocortical cancer are: Li-Fraumeni's syndrome, Beckwith-Wiedemann's syndrome and familial adenomatous polyposis, whereas multiple endocrine neoplasia type 1, Carney's complex and McCune-Albright's syndrome mostly predispose to benign adrenocortical tumors.
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