Results 41 to 50 of about 2,769 (118)

MCCUNE-ALBRIGHT SYNDROME (MAS)

Averrous: Jurnal Kedokteran dan Kesehatan Malikussaleh, 2019
McCune-Albright Syndrome (MAS) adalah suatu penyakit yang etiologinya adalah akibat mutasi gen guanine nucleotide binding alpha stimulating (GNAS1) pada masa embrionik.
Mardiati Mardiati, Fury Maulina
doaj   +1 more source

The first case report of McCune-Albright syndrome in Syria with late diagnosis

Journal of Clinical and Translational Endocrinology Case Reports
McCune-Albright syndrome is a rare, non-familial disorder characterized by various clinical presentations. While it is well-known for its classic triad of symptoms of fibrous dysplasia, café-au-lait macules, and precocious puberty, McCune-Albright ...
Zeina Kanjo, Ola Faleh, Lilianne Haj Hassan   +2 more
doaj   +1 more source

Treatment of Peripheral Precocious Puberty [PDF]

, 2015
There are many etiologies of peripheral precocious puberty (PPP) with diverse manifestations resulting from exposure to androgens, estrogens, or both. The clinical presentation depends on the underlying process and may be acute or gradual.
Eugster, Erica A., Schoelwer, Melissa
core   +1 more source

Clinical Case of Mccune-Albright-Braitsev Syndrome (MAS)

Медицинский вестник Юга России, 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. The pathogenesis is based on the
F. V. Valeeva, T. A. Kiseleva, M. R. Shaidullina, D. R. Islamova, A. K. Gumerova   +4 more
doaj   +1 more source

Familial Micronodular Adrenocortical Disease, Cushing Syndrome, and Mutations of the Gene Encoding Phosphodiesterase 11A4 ( PDE11A) [PDF]

, 2014
We present the pathologic findings in the adrenal glands of 4 patients, aged 10 to 38 years, with Cushing syndrome and germline inactivating mutations of the gene PDE11A4 that encodes phosphodiesterase11A4. The gene is expressed in the adrenal cortex and
Bertherat, J., Carney, J.A., Gaillard, R.C., Stratakis, C.A.   +3 more
core   +1 more source

The Molecular Pathogenesis of Pituitary Adenomas: An Update [PDF]

, 2013
Pituitary tumors represent the most common intracranial neoplasms accompanying serious morbidity through mass effects and inappropriate secretion of pituitary hormones. Understanding the etiology of pituitary tumorigenesis will facilitate the development
Jiang, Xiaobing, Zhang, Xun
core   +2 more sources

Oral manifestations of McCune-Albright syndrome

Indian Journal of Endocrinology and Metabolism, 2013
McCune- Albright Syndrome (MAS) is a rare fibrosseous lesion, characterized by a classic triad of polyostotic fibrous dysplasia (PFD), cafι -au-lait macules (CALM) and underlying endocrinopathies.
Konidena Aravinda, Pamula Ratnakar, Kandakurti Srinivas   +2 more
doaj   +1 more source

Auxological and Endocrinological Features in Children With McCune Albright Syndrome: A Review

Frontiers in Endocrinology, 2020
McCune–Albright syndrome is a rare and challenging congenital sporadic disease involving the skin and skeletal and endocrine systems with a prevalence ranges from one in 100,000 to 1,000,000.
Maria Tufano, Daniele Ciofi, Antonella Amendolea, Stefano Stagi   +3 more
doaj   +1 more source

Sindrom McCune Albright Dengan Manifestasi Fraktur Berulang [PDF]

, 2021
Abstrak Sindrom McCune-Albright (SMA) merupakan kelainan genetik kompleks yang ditandai dengan trias displasia fibrosa poliostotik, café-au-lait, dan hiperfungsi endokrin. Sindrom ini termasuk penyakit langka dengan prevalens sebesar 1 per 100.000 hingga
Nadya, Ruth, Soesanti, Frida
core   +2 more sources

McCune Albright Syndrome: A Diagnosis to be Kept in Mind [PDF]

, 2011
Precocious puberty, defined as the development of secondary sexual characteristics before the age of 8, often leads to anxiety in patients and their families but also in clinicians searching for the final diagnosis.
Barros, L, Bernardo, MJ, Sousa, F
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