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McCune-Albright Syndrome with Acromegaly [PDF]
Hormone and Metabolic Research, 1989 This article demonstrates that acromegaly and hyperprolactinaemia can occur in a patient with McCune-Albright syndrome without any evidence of other endocrine ...
Chan, G +5 more
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Acta Endocrinologica, 1986
Abstract. The presence of polyostotic fibrous dysplasia of bone, hyperpigmented skin macules, and precocious sexual development in children is known as the McCune-Albright syndrome. To date, a complex combination of multiple endocrinopathies including goiter, hyperthyroidism, acromegaly, Cushing syndrome, hyperprolactenemia, sexual precocity ...
Robert M. Blizzard, Nelly Mauras
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Abstract. The presence of polyostotic fibrous dysplasia of bone, hyperpigmented skin macules, and precocious sexual development in children is known as the McCune-Albright syndrome. To date, a complex combination of multiple endocrinopathies including goiter, hyperthyroidism, acromegaly, Cushing syndrome, hyperprolactenemia, sexual precocity ...
Robert M. Blizzard, Nelly Mauras
openaire +3 more sources
Infantile McCune–Albright Syndrome
Pediatric Dermatology, 2001McCune–Albright syndrome is a rare disorder caused by an activating mutation of the α subunit of the Gs protein and is characterized by multiple hormonal abnormalities, fibrous dysplasia of bone, and cutaneous pigmentation. We report a 10‐week‐old infant with McCune–Albright syndrome. He presented with failure to thrive, cardiorespiratory distress, and
Davies, J.H. +3 more
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Burosumab Therapy in a Paediatric Patient with McCune-Albright Syndrome: A Case Report
Hormone Research in Paediatrics, 2022Introduction: McCune-Albright syndrome is characterized by the triad of fibrous dysplasia, café au lait skin pigmentation, and hyperfunctioning endocrinopathies.
L. Apperley, S. Senniappan
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McCune-Albright Syndrome with Thyrotoxicosis
Clinical Nuclear Medicine, 2001The authors report a rare case of McCune-Albright syndrome in a 5-year-old boy with thyrotoxicosis resulting from a hyperfunctioning solitary thyroid nodule shown on a Tc-99 thyroid scan. He also had an associated elevated parathyroid hormone level. Since 1963, only 34 cases of McCune-Albright syndrome with hyperthyroidism have been described.
Ajay K. Singh +4 more
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Genetics of McCune-Albright Syndrome
Journal of Pediatric Endocrinology and Metabolism, 2006McCune-Albright syndrome (MAS) is a rare proteiform disease due to postzygotic, somatic mutations at codon R201 of the GNAS1 gene that results in cellular mosaicism. Different methods have been used in the molecular analysis of DNA samples from several tissues of patients with one or more MAS signs, with various mutation detection rates. We review data
DE SANCTIS, Luisa +5 more
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1987
The McCune Albright syndrome is characterized in complete form by (a) patchy areas of a particular type of progressive bone disease termed polyostotic fibrous dysplasia; (b) multiple areas of cutaneous light brown pigmentation or cafe au lait spots; and (c) autonomous hyperfunction of one or more of the endocrine system, especially the gonads and ...
J. D. Crawford, M. Danon
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The McCune Albright syndrome is characterized in complete form by (a) patchy areas of a particular type of progressive bone disease termed polyostotic fibrous dysplasia; (b) multiple areas of cutaneous light brown pigmentation or cafe au lait spots; and (c) autonomous hyperfunction of one or more of the endocrine system, especially the gonads and ...
J. D. Crawford, M. Danon
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McCune albright syndrome and hypophosphatemic rickets [PDF]
The Indian Journal of Pediatrics, 1999 A 4 year-old girl had coxa vara, tibial bowing and hyperpigmented macules. The x-ray showed polyostotic fibrous dysplasia and evidence of rickets. Biochemical investigations confirmed hyperphosphaturic hypophosphatemic rickets. The literature has been reviewed.
Sourabh Dutta, Arvind Bagga
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Image Diagnosis in McCune-Albright Syndrome
Journal of Pediatric Endocrinology and Metabolism, 2006McCune-Albright syndrome consists of polyostotic fibrous dysplasia, precocious puberty and cafè-au-lait skin lesions. Bone lesions are characterized by the presence of fibrous connective tissue with a characteristic whorled pattern and containing trabeculae of immature non-lamellar (woven) bone.
Defilippi, Claudio +4 more
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JBJS Case Connector
CASE Burosumab is a novel drug developed to treat hereditary fibroblast growth factor 23 (FGF23)-related disorders. We report the case of an 11-year-old girl with McCune-Albright syndrome (MAS) who sustained hypophosphatemia due to excess FGF23 and ...
Kentaro Sawamura +2 more
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CASE Burosumab is a novel drug developed to treat hereditary fibroblast growth factor 23 (FGF23)-related disorders. We report the case of an 11-year-old girl with McCune-Albright syndrome (MAS) who sustained hypophosphatemia due to excess FGF23 and ...
Kentaro Sawamura +2 more
semanticscholar +1 more source