A rare case of acrohygiantism caused by Carney’s complex: diagnostic and treatment challenges
https://doi.org/10.14341/omet13302
Abstract
Acromegaly and gigantism are rare neuroendocrine diseases caused by excessive secretion of growth hormone (GH) and/ or high levels of insulin-like growth factor (IGF-1). Gigantism develops when excess GH or IGF-1 leads to accelerated linear growth before the completion of puberty and the closure of the epiphyses, most commonly caused by a somatotropic pituitary adenoma. The diagnosis of somatotropinoma in childhood is particularly challenging due to its subtle and nonspecific clinical presentation. Somatotropinomas at a young age are more often caused by genetic abnormalities and have a more aggressive course.
The article presents a clinical case of acrogigantism in a patient with two identified heterozygous variants in the PRKAR1A and SDHB genes. The scientific interest of the described observation is due to the debut of gigantism in childhood, complex pathogenetic treatment, as well as the experience of using the growth hormone receptor antagonist pegvisomant in a teenager in Russia.
About the Authors
E. E. Filkina
Endocrinology Research Center
Russian Federation
Competing Interests:
Russian Federation
Ekaterina E. Filkina, Clinical resident
11 Dm. Ulyanova street, 117292 Moscow
Competing Interests:
Авторы декларируют отсутствие конфликта интересов
E. G. Przhiyalkovskaya
Endocrinology Research Center
Russian Federation
Competing Interests:
Russian Federation
Elena G. Przhiyalkovskaya, MD, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие конфликта интересов
A. A. Kolodkina
Endocrinology Research Center
Russian Federation
Competing Interests:
Russian Federation
Anna A. Kolodkina, PhD, MD
Moscow
Competing Interests:
Авторы декларируют отсутствие конфликта интересов
L. S. Urusova
Endocrinology Research Center
Russian Federation
Competing Interests:
Russian Federation
Liliya Urusova, ScD
Moscow
Competing Interests:
Авторы декларируют отсутствие конфликта интересов
E. A. Troshina
Endocrinology Research Center
Russian Federation
Competing Interests:
Russian Federation
Ekaterina A. Troshina, MD, PhD, Professor
Moscow
Competing Interests:
Авторы декларируют отсутствие конфликта интересов
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Supplementary files
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1. Figure 1. MRI image of a giant pituitary adenoma. | |
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2. Figure 2. Patient R. at the age of 21 with his mother. | |
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3. Figure 3. Patient R. Typical changes in appearance in acrogigantism. | |
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4. Figure 4. Dynamics of the IGF-1 index during treatment. | |
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5. Figure 5. Large-cell calcifying Sertoli cell tumor (A, B) (LCCSCT). H&E stain. x 50, 100 magnification. Immunohistochemical expression of SF1 in the nuclei of tumor cells (C), and cytoplasmic expression of AMACR (D). | |
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For citations:
Filkina E.E., Przhiyalkovskaya E.G., Kolodkina A.A., Urusova L.S., Troshina E.A. A rare case of acrohygiantism caused by Carney’s complex: diagnostic and treatment challenges. Obesity and metabolism. 2025;22(4):383-390. (In Russ.) https://doi.org/10.14341/omet13302
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