نتایج جستجو برای: mccune albright syndrome

تعداد نتایج: 622355  

Journal: :Journal of Genetic Syndromes & Gene Therapy 2016

Journal: : 2023

The presented clinical case describes orphan disease known as MAS with manifested symptoms of precocious puberty, recurrent ovarian cysts, fibrous dysplasia, café-au-lait skin pigmentation and abnormal cardiac conduction. pathogenesis is based on the GNAS gene mutation that cause hyperactivation glycoprotein hormone receptors hypersecretion. There are genetic tests confirm diagnosis, however, g...

Journal: :Journal of obstetrics and gynaecology of India 2016
A Mishra R Purvar S Malik K Agarwal R Gera S Sridhar

McCune Albright syndrome is diagnosed by a constellation of Café-au-lait spots, multiostosis fibrous dysplasia and precocious puberty. Other endocrine dysfunctions which are often associated are growth hormone excess, hyperthyroidism, Cushings syndrome, hyperprolactinemia and phosphate wasting. Its prevalence is 1:100000–1:1000000 in different ethnicity [1]. It is a rare cause of precocious pub...

Journal: :Archives of Iranian medicine 2010
Sepideh Siadati Ensiyeh Shafigh

Fibrous dysplasia is a benign bone lesion of unknown etiology. Bone involvement usually is solitary (monostotic). Multiple forms (polyostotic) associated with extra skeletal symptoms, particularly cutaneous pigmentation, endocrine dysfunction and precocious puberty is called McCune-Albright syndrome (MAS). We report the case of a 40-year-old man who presented with left mandibular body expansion...

Journal: :Clinical Cases in Mineral and Bone Metabolism 2017

Journal: :Dicle Medical Journal / Dicle Tip Dergisi 2015

Journal: :Revista del cuerpo médico del HNAAA 2022

Introducción: El síndrome de McCune-Albright (SMA) es una enfermedad rara caracterizada por la triada: manchas cutáneas color café con leche, displasia fibrosa poliostótica y pubertad precoz. Puede afectar a diversos ejes hormonales, entre ellos el hormona crecimiento (GH), pudiendo asociarse acromegalia. Reporte caso: describimos caso mujer 44 años, precoz periférica, hemorragia uterina anorma...

2017
Yasuhiro Nakamura Yuichi Matsuzaki Kota Momose Kazunari Sasaki Masamichi Matsuda

Cyprostate acetate (CPA) has been used in the treatment of hyper sexuality, which is considered as carcinogenic agent and its use has been prohibited for children. We presented young patient having hepatocellular carcinoma (HCC) with medication history of CPA during childhood, which arose from normal background liver without virus infections and other causes of liver dysfunction. The patient ha...

2016
Sylwia Wójcik Rafał Koszowski Bogna Drozdowska Joanna Śmieszek-Wilczewska Agnieszka Raczkowska-Siostrzonek

McCune Albright syndrome (MCA) is a rare complication of genetic origin. The authors present a case study of a patient with MCA diagnosed with multifocal fibrous dysplasia in his limb and craniofacial bones. The symptoms of the disease in the patient's facial and oral tissue and the treatment administered have been described.

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