Nadezhda V. Makazan's research while affiliated with Endocrinology Research Centre and other places

Publications (8)

Article
Parathyroid hormone (PTH) is a key hormone responsible for regulation of calcium homeostasis in the body. Since the main body calcium depot is bone tissue, PTH has a decisive effect on its homeostasis. In this case, the hormone can activate both bone formation and resorption. Thus, PTH can ensure the conjugation of anabolic and catabolic processes,...
Article
Primary adrenal insufficiency is manifested by a deficiency of adrenal cortex hormones and can lead to a life-threatening condition. Early diagnosis is key to patient survival. Auto-antibodies to one of the adrenal steroidogenesis enzymes, 21-hydroxylase, are an immunological marker of autoimmune adrenal insufficiency. On the one hand, the study of...
Article
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Pseudohypoparathyroidism is a rare group of clinically and genetically heterogeneous diseases caused by the inactivation of the PTH-signaling pathway. The main component of the disease is resistance to PTH, causing a disturbance of calcium-phosphorus metabolism. With pseudohypoparathyroidism, there may also be a development of insensitivity to thyr...
Article
Full-text available
Pseudohypoparathyroidism is a rare group of clinically and genetically heterogeneous diseases caused by the inactivation of the PTH-signaling pathway. The main component of the disease is resistance to PTH, causing a disturbance of calcium-phosphorus metabolism. With pseudohypoparathyroidism, there may also be a development of insensitivity to thyr...
Article
Full-text available
Синдром МакКьюна—Олбрайта—Брайцева (МОБ) — редкое генетическое заболевание, в основе которого лежат соматические мутации в гене GNAS. Клинические признаки заболевания включают пятна цвета «кофе с молоком», фиброзную дисплазию и гиперфункцию эндокринных желез. Соматический характер мутации определяет вариабельность проявлений синдрома: от легких фор...
Article
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Обоснование. Псевдогипопаратиреоз (ПГП) — группа редких заболеваний, связанная с резистентностью к паратгормону (ПТГ). ПГП характеризуется генетической гетерогенностью и клиническим полиморфизмом. Помимо синдрома гипокальциемии на фоне резистентности к ПТГ, для ПГП характерны особенности фенотипа и резистентность к другим гормонам (ТТГ, ЛГ, ФСГ, ГР...
Article
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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...