Open AccessСushing’s syndrome in early infancy due to МcCune—Albright syndrome
Author(s) -
Nadezhda Makazan,
Маказан Надежда Викторовна,
Elizaveta Orlova,
Орлова Елизавета Михайловна,
Maria Kareva,
Карева Мария Андреевна,
Igor V. Poddybnyi,
Поддубный Игорь Витальевич,
К. Н. Толстов,
Толстов Кирилл Николаевич,
G. A. Polyakova,
Полякова Галина Александровна,
П С Богданова,
Богданова Полина Сергеевна,
Valentina Peterkova,
Петеркова Валентина Александровна,
И И Дедов,
Дедов Иван Иванович
Publication year - 2016
Publication title -
problemy èndokrinologii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.124
H-Index - 5
eISSN - 2308-1430
pISSN - 0375-9660
DOI - 10.14341/probl20166239-15
Subject(s) - mccune–albright syndrome , gnas complex locus , precocious puberty , fibrous dysplasia , medicine , café au lait spot , dysplasia , endocrinology , pediatrics , hormone , pathology , gene , biology , neurofibromatosis , genetics
McCune—Albright syndrome (MAS) is a rare multisystem disorder, classically defined by the clinical triad of fibrous dysplasia of bones (FD), café-au-lait skin spots, precocious puberty (PP) and other hyperfunctioning endocrinopathies. Diagnosis can be made if there are at least 2 of the 3 classical features. It is caused by somatic mutations of the GNAS gene encodes stimulate α-subunit of G protein (Gas). Gas is crucial for mediating effects of the lot of peptide hormones. Increased activity of Gas leads to multisystem hyperfunction. Some features are common (such as gonadotropin-independent precocious puberty) and another signs occur seldom. The clinical presentation of MAS is variable, the features occur at the different age. One of the rare feature of the MAS is Cushing’s syndrome due to bilateral adrenal hyperplasia, which usually occurs in the neonatal period. We describe clinical case of ACTH-independent hypercortisolism in the boy with MAS.