References

ometendo

Ожирение и метаболизм

Obesity and metabolism

2071-87132306-5524

Endocrinology Research Centre

10.14341/2071-8713-4817

ometendo-4817

Research Article

Статьи

Articles

Генетические и обменные особенности семейных изолированных аденом гипофиза

Genetic and metabolic characteristics of familial isolated pituitary adenomas

Dalantaeva

N S

nsdalantaeva@gmail.com

Dedov

I I

dedov@endocrincentr.ru

2013

15062013

102

№2 (2013)

310

2013

Dalantaeva N.S., Dedov I.I.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.omet-endojournals.ru/jour/article/view/4817

Семейные изолированные аденомы гипофиза (FIPA, familial isolated pituitary adenoma) – относительно новый термин для обозначения заболевания, которое характеризуется аутосомно-доминантным наследованием с неполной пенетрантностью в результате развития опухолей гипофиза без отличительных признаков других эндокринных заболеваний или синдромов, таких, как, например, синдром множественных эндокринных неоплазий 1 типа (МЭН-1 синдром) или Карни-комплекс [1]. FIPA-cемьи насчитывают около 2% среди всех случаев возникновения аденом гипофиза. Среди этих FIPA-cемей около 15–20% имеют мутации в гене, кодирующем белок арилуглеводородного рецептора. Это супрессорный ген, расположенный на длинном плече 11 хромосомы [2, 3]. Этиологический ген для остального большего процента FIPA-cемей до сих пор остается неизвестным. Зародышевые мутации в AIP-гене были также обнаружены у пациентов с ранним развитием аденом гипофиза, в основном секретирующих гормон роста, или соматотропный гормон (СТГ), гораздо реже – пролактин (ПРЛ) и адренокортикотропный гормон (АКТГ) без наличия явной семейной истории. Такие случаи называются «простыми». Соматические мутации AIP-гена в гипофизарных или опухолях другой локализации до настоящего времени не описаны [1].

Familial isolated pituitary adenoma (FIPA) – a relatively new term for the disease, which is characterized by an autosomal dominant inheritance with incomplete penetrance, resulting in the development of pituitary tumors with no distinguishing features other endocrine diseases or syndromes, such as, for example, the syndrome multiple endocrine neoplasia type 1 (MEN-1 syndrome) or the Carney complex. FIPA-families account for about 2% of all cases of pituitary adenomas. Among the FIPA-family about 15–20% have mutations in the gene encoding the protein aryl hydrocarbon receptor. This suppressor gene located on the long arm of chromosome 11. Etiological gene for the rest of the greater percentage of FIPA-family is still unknown. Germline mutations in the AIP gene have also been found in patients with early development of pituitary adenomas, mainly secreting growth hormone, much rarely – prolactin and adrenocorticotropic hormone without a clear family history. Such cases are called "simple". Somatic mutations of the AIP gene in pituitary tumors or other sites has not yet been described

акромегалияопухоли гипофиза

AIPFIPAacromegalya pituitary tumorAIPFIPA

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The authors declare that there are no conflicts of interest present.