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Clinical picture of pseudohypoparathyroidism and related disorders

Kravchenya Aliya Rimovna  (Candidate of Medical Sciences, Associate Professor of the Department of Children's Diseases of the Faculty of Medicine, Saratov State Medical University named after V. I. Razumovsky of the Ministry of Health of the Russian Federation)

Polidanov Maxim Andreevich  (6th year student of the Faculty of Medicine, Saratov State Medical University named after V. I. Razumovsky of the Ministry of Health of the Russian Federation)

Kondrashkin Ivan Evgenievich  (6th year student of the Faculty of Medicine, Saratov State Medical University named after V. I. Razumovsky of the Ministry of Health of the Russian Federation )

Tyapkina Darya Andreevna  (6th year student of the Faculty of Medicine, Saratov State Medical University named after V. I. Razumovsky of the Ministry of Health of the Russian Federation )

Kravchenya Danila Sergeevich  (4th year student of the Faculty of Medicine, Saratov State Medical University named after V. I. Razumovsky of the Ministry of Health of the Russian Federation)

The article describes the clinical aspects of pseudohypoparathyroidism, a disease belonging to the spectrum of rare disorders of mineral metabolism, characterized by features due to the resistance of the end organs to parathyroid hormone. The phenotypes of Albright's hereditary osteodystrophy, originally described as associated with the disease, may be associated with endocrine manifestations of hormonal resistance. Genetic and epigenetic analyses, although not necessary for making a diagnosis based on basic and secondary criteria in accordance with clinical and biochemical characteristics, will allow differentiating different forms for proper therapy planning, counseling and follow-up.

Keywords:pseudohypoparathyroidism, Albright osteodystrophy, hereditary osteodystrophy, hormonal resistance, therapy planning

 

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Citation link:
Kravchenya A. R., Polidanov M. A., Kondrashkin I. E., Tyapkina D. A., Kravchenya D. S. Clinical picture of pseudohypoparathyroidism and related disorders // Современная наука: актуальные проблемы теории и практики. Серия: Естественные и Технические Науки. -2022. -№12. -С. 177-180 DOI 10.37882/2223-2966.2022.12.18
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