endosergЭндокринная хирургияEndocrine Surgery2306-35132310-3965Типография «Печатных дел Мастер»10.14341/serg12709endoserg-12709Research ArticleКлинические случаиCase reportsКлинико-генетическая гетерогенность двусторонней микронодулярной гиперплазии надпочечниковClinical and genetic heterogeneity of micronodular adrenal hyperplasiahttps://orcid.org/0000-0001-5592-4794ШевэА.ChevaisA.

Шевэ Анастасия, аспирант, 117036, Москва, ул. Дмитрия Ульянова, д. 11, eLibrary SPIN: 2459-0540

Anastassia Chevais, MD, 11, Dm. Ulyanova street, Moscow, 117036 Russian Federation, eLibrary SPIN: 2459-0540

anastassia93@gmail.comhttps://orcid.org/0000-0001-7098-4584БельцевичД. Г.BeltsevichD. G.

Бельцевич Дмитрий Германович, д.м.н., проф., eLibrary SPIN: 4475-6327

Dmitriy G. Beltsevich, MD, PhD, Professor, eLibrary SPIN: 4475-6327

belts67@gmail.comhttps://orcid.org/0000-0001-8284-9996АбросимовА. Ю.AbrosimovA. Yu.

Абросимов Александр Юрьевич, д.м.н., профессор, eLibrary SPIN: 4089-9502

Aleksandr Yu. Abrosimov, MD, PhD, eLibrary SPIN: 4089-9502

patomorph@endocrincentr.ruhttps://orcid.org/0000-0003-2622-8858ДеркачД. А.DerkatchD. A.

Деркач Дмитрий Анатольевич, eLibrary SPIN: 9549-1557

Dmitriy A. Derkatch, MD, eLibrary SPIN: 9549-1557

dmitriy_derkatch@mail.ruhttps://orcid.org/0000-0002-1974-7564ЛазареваА. А.LazarevaA. A.

Лазарева Анна Александровна, клинический ординатор,  eLibrary SPIN: 3940-5767

Anna A. Lazareva, medical resident, eLibrary SPIN: 3940-5767

annalazareva15@mail.ruНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian Federation2021270920211512735Copyright © Шевэ А., Бельцевич Д.Г., Абросимов А.Ю., Деркач Д.А., Лазарева А.А., 20212021Шевэ А., Бельцевич Д.Г., Абросимов А.Ю., Деркач Д.А., Лазарева А.А.Chevais A., Beltsevich D.G., Abrosimov A.Y., Derkatch D.A., Lazareva A.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.surg-endojournals.ru/jour/article/view/12709

Микронодулярная гиперплазия надпочечников (МикГН) является редкой причиной АКТГ-независимого гиперкортицизма, которая может быть разделена по крайней мере на две отдельные группы патологий: первичная пигментированная МикГН и непигментированная МикГН, среди которых выделяют семейные и спорадические формы. Наиболее часто встречающейся является генетически детерминированная семейная форма первично - пигментированной МикГН, как одна из составляющих комплекса Карни, обусловленная герминальной мутацией в гене PRKAR1A. При изолированных формах, помимо мутации в гене PRKAR1A, описаны инактивирующие мутации в генах кодирующих фосфодиэстеразы (PDE11A4 и PDE8B), а также амплификация гена PRKACA.

Несмотря на относительную давность описания микронодулярной гиперплазии и одноименного комплекса Эйданом Карни в 1985 г., детальное изучение патофизиологических механизмов, генетических и клинических аспектов данной патологии, на сегодняшний день клиницисты продолжают сталкиваться с «нетипичными» случаями заболевания. Таким образом, природа данного заболевания недостаточно изучена и требует дальнейшего исследования. В данной обзорной статье, представлены накопленные данные о МикГН с акцентом на генетические аспекты, а также описаны 2 уникальных клинических случая изолированной МикГН с результатами односторонней адреналэктомии.

Micronodular adrenal hyperplasia is a rare cause of ACTH-independent Cushing syndrome. It can be divided into two entities: primary pigmented nodular adrenocortical disease (PPNAD) and non-pigmented micronodular adrenocortical disease, among which familial and sporadic forms are distinguished. The most common is the genetically determined familial form PPNAD, as one of the components of Carney complex. The vast majority of patients have identifiable pathogenic variants in the PRKAR1A gene. In addition to the PRKAR1A gene mutations, inactivating mutations in the genes encoding phosphodiesterases (PDE11A4 and PDE8B), as well as PRKACA gene amplification, have been described in individuals with isolated forms. Despite the relative antiquity of the description of micronodular adrenal hyperplasia and the Carney comlex, a detailed study of pathophysiological mechanisms, genetic and clinical aspects of this pathology, nowadays, clinicians continue to face «atypical» cases. Thus, the nature of this disease is not well understood and requires further research. This review presents the accumulated data on micronodular adrenal hyperplasia, genetics aspects, and also describes 2 unique clinical cases of isolated PPNAD with unilateral adrenalectomy results.

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