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Symptoms. The main symptom of McCune-Albright syndrome is early puberty in girls. Menstrual periods may begin in early childhood, long before the breasts or pubic hair develop (which normally occur first). The average age that symptoms appear is 3 years old. However, puberty and menstrual bleeding have occurred as early as 4 to 6 months in girls.
Feb 16, 2024 · McCune-Albright syndrome (MAS) consists of at least 2 of the following 3 features: (1) polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin pigmentation (see the image below), and (3) autonomous endocrine hyperfunction (eg, gonadotropin-independent precocious puberty). Other endocrine syndromes may be present, including hyperthyroidism,...
Sep 17, 2012 · McCune-Albright Syndrome (MAS) is a rare genetic disorder originally characterized as the triad of polyostotic fibrous dysplasia of bone, precocious puberty, and café-au-lait skin pigmentation (1, 2). With time other associated endocrinopathies have been recognized, including hyperthyroidism, growth hormone excess, FGF23-mediated phosphate ...
Jul 15, 2019 · McCune Albright syndrome (MAS) is a rare non-inherited condition caused by constitutive activation of Gsa. It presents with café-au-lait macules, precocious puberty and polyostotic fibrous dysplasia (FD). 1 Besides this classic triad, it can also present with other endocrinopathies in the form of acromegaly, hypophosphatemic osteomalacia ...
Oct 28, 2021 · McCune-Albright syndrome (MAS) is a sporadic disease caused by somatic activating mutations of the GNAS1 gene encoding the α subunit of guanine nucleotide-binding protein , which lead to constitutive receptor activation and dysregulated production of cAMP .
A webpage that discusses McCune-Albright syndrome, a rare disease affecting multiple tissues such as the skeletal system and skin.
Nov 1, 2019 · Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disorder of striking complexity. Somatic gain-of-function mutations lead to mosaic activation of Gα s, resulting in disease that may involve any part of the skeleton, and may be variably associated with cutaneous, endocrine, and other extraskeletal features.
