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Эндокринные нарушения у пациентов с трансфузионно-зависимыми наследственными анемиями

Often transfusions red blood cells in patients with hereditary anemias lead to iron overload, that can cause endocrine complications, such as growth retardation, hypothyroidism, hypogonadism, and disorders of carbohydrate metabolism.Clinical case 1. A boy with transfusion-dependent (TD) Diamond-Blac...

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Autores principales: Витебская, А. В., Бугакова, Е. С., Писарева, Е. А., Тихонович, Ю. В.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrinology Research Centre 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939971/
https://www.ncbi.nlm.nih.gov/pubmed/36689717
http://dx.doi.org/10.14341/probl13149
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author Витебская, А. В.
Бугакова, Е. С.
Писарева, Е. А.
Тихонович, Ю. В.
author_facet Витебская, А. В.
Бугакова, Е. С.
Писарева, Е. А.
Тихонович, Ю. В.
author_sort Витебская, А. В.
collection PubMed
description Often transfusions red blood cells in patients with hereditary anemias lead to iron overload, that can cause endocrine complications, such as growth retardation, hypothyroidism, hypogonadism, and disorders of carbohydrate metabolism.Clinical case 1. A boy with transfusion-dependent (TD) Diamond-Blackfan anemia at 16.3 years presented with impaired fasting glucose, growth hormone (GH) deficiency, hypogonadotropic hypogonadism; GH therapy was initiated. At the age of 16.8 years old secondary hypothyroidism, secondary hypocorticism and diabetes mellitus were diagnosed. At 17.2 years continuous glucose monitoring (CGM) detected glucose elevations up to 11.7 mmol/l. Therapy with GH and testosterone ethers was continued; levothyroxine and cortef were stopped by patient. At 17.9 years height was 163 cm; no data supporting hypothyroidism nor hypocorticism; glycaemia within goal range.Clinical case 2. A girl with TD beta-thalassemia major at the age of 11.5 years presented with GH deficiency; GH therapy has been conducted from 12.8 to 15.3 years of age. At 13.8 years retardation of pubertal development was diagnosed. At 15.0 hyperglycemia 7.2 mmol/l was detected; normal results of oral glucose tolerance test (OGTT) were observed; glycemia elevations were up to 9.5 mmol/l according to CGM data. At 16.0 height was 152 cm; because of pubertal development arrest hormone replacement therapy was prescribed.CONCLUSION. Growth, pubertal and carbohydrate metabolism disorders were diagnosed in patients with TD hereditary anemias, that confirms the necessity of regularly endocrine investigation. To detect impairment of carbohydrate metabolism investigation of fasting blood glucose, OGTT, and CGM is recommended; glycated hemoglobin measurement is not considered reasonable.
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spelling pubmed-99399712023-02-21 Эндокринные нарушения у пациентов с трансфузионно-зависимыми наследственными анемиями Витебская, А. В. Бугакова, Е. С. Писарева, Е. А. Тихонович, Ю. В. Probl Endokrinol (Mosk) Research Article Often transfusions red blood cells in patients with hereditary anemias lead to iron overload, that can cause endocrine complications, such as growth retardation, hypothyroidism, hypogonadism, and disorders of carbohydrate metabolism.Clinical case 1. A boy with transfusion-dependent (TD) Diamond-Blackfan anemia at 16.3 years presented with impaired fasting glucose, growth hormone (GH) deficiency, hypogonadotropic hypogonadism; GH therapy was initiated. At the age of 16.8 years old secondary hypothyroidism, secondary hypocorticism and diabetes mellitus were diagnosed. At 17.2 years continuous glucose monitoring (CGM) detected glucose elevations up to 11.7 mmol/l. Therapy with GH and testosterone ethers was continued; levothyroxine and cortef were stopped by patient. At 17.9 years height was 163 cm; no data supporting hypothyroidism nor hypocorticism; glycaemia within goal range.Clinical case 2. A girl with TD beta-thalassemia major at the age of 11.5 years presented with GH deficiency; GH therapy has been conducted from 12.8 to 15.3 years of age. At 13.8 years retardation of pubertal development was diagnosed. At 15.0 hyperglycemia 7.2 mmol/l was detected; normal results of oral glucose tolerance test (OGTT) were observed; glycemia elevations were up to 9.5 mmol/l according to CGM data. At 16.0 height was 152 cm; because of pubertal development arrest hormone replacement therapy was prescribed.CONCLUSION. Growth, pubertal and carbohydrate metabolism disorders were diagnosed in patients with TD hereditary anemias, that confirms the necessity of regularly endocrine investigation. To detect impairment of carbohydrate metabolism investigation of fasting blood glucose, OGTT, and CGM is recommended; glycated hemoglobin measurement is not considered reasonable. Endocrinology Research Centre 2022-07-27 /pmc/articles/PMC9939971/ /pubmed/36689717 http://dx.doi.org/10.14341/probl13149 Text en Copyright © Endocrinology Research Centre, 2023 https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 License.
spellingShingle Research Article
Витебская, А. В.
Бугакова, Е. С.
Писарева, Е. А.
Тихонович, Ю. В.
Эндокринные нарушения у пациентов с трансфузионно-зависимыми наследственными анемиями
title Эндокринные нарушения у пациентов с трансфузионно-зависимыми наследственными анемиями
title_full Эндокринные нарушения у пациентов с трансфузионно-зависимыми наследственными анемиями
title_fullStr Эндокринные нарушения у пациентов с трансфузионно-зависимыми наследственными анемиями
title_full_unstemmed Эндокринные нарушения у пациентов с трансфузионно-зависимыми наследственными анемиями
title_short Эндокринные нарушения у пациентов с трансфузионно-зависимыми наследственными анемиями
title_sort эндокринные нарушения у пациентов с трансфузионно-зависимыми наследственными анемиями
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939971/
https://www.ncbi.nlm.nih.gov/pubmed/36689717
http://dx.doi.org/10.14341/probl13149
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