A special case of insulin resistance in a 12-year-old girl (Rabson-Mendenhall syndrome)
The article presents the results of literature review on Rabson-Mendenhall syndrome and a clinical case of this syndrome in an adolescent girl. The cause of insulin resistance in Rabson-Mendenhall syndrome is a mutation of the insulin receptor gene (INSR). Rabson-Mendenhall syndrome occurs in childr...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Zaslavsky O.Yu.
2017-04-01
|
| Series: | Zdorovʹe Rebenka |
| Subjects: | |
| Online Access: | http://childshealth.zaslavsky.com.ua/article/view/104234 |
| _version_ | 1818083362947989504 |
|---|---|
| author | T.V. Sorokman P.M. Moldovan O.V. Makarova |
| author_facet | T.V. Sorokman P.M. Moldovan O.V. Makarova |
| author_sort | T.V. Sorokman |
| collection | DOAJ |
| description | The article presents the results of literature review on Rabson-Mendenhall syndrome and a clinical case of this syndrome in an adolescent girl. The cause of insulin resistance in Rabson-Mendenhall syndrome is a mutation of the insulin receptor gene (INSR). Rabson-Mendenhall syndrome occurs in children of both sexes. The prevalence of the disease is unknown. The genetic risk for descendants is high. Karyotype is normal. Most of the patients have additional features of this syndrome. Symptoms of Rabson-Mendenhall syndrome differ in each case, but it can be suspected already in the first year of life for the lag in weight gain, malformations (coarse facial features, abnormal teeth, hyperpigmentation), abnormally dry skin, hyperglycemia and insulin resistance, as well as additional features (enlarged abdomen, abnormal clitoris, frequent vomiting, ketoacidosis). The diagnosis is confirmed by genetic researches. The present clinical case might be interesting in terms of combination of duodenum ulcer and labile diabetes mellitus, which manifested by frequent episodes of ketoacidosis, and features of INSR mutations. |
| first_indexed | 2024-12-10T19:36:48Z |
| format | Article |
| id | doaj.art-e10658f2af2f42dcba5f21d802ef6b33 |
| institution | Directory Open Access Journal |
| issn | 2224-0551 2307-1168 |
| language | English |
| last_indexed | 2024-12-10T19:36:48Z |
| publishDate | 2017-04-01 |
| publisher | Zaslavsky O.Yu. |
| record_format | Article |
| series | Zdorovʹe Rebenka |
| spelling | doaj.art-e10658f2af2f42dcba5f21d802ef6b332022-12-22T01:36:06ZengZaslavsky O.Yu.Zdorovʹe Rebenka2224-05512307-11682017-04-0112340140710.22141/2224-0551.12.3.2017.104234104234A special case of insulin resistance in a 12-year-old girl (Rabson-Mendenhall syndrome)T.V. Sorokman0P.M. Moldovan1O.V. Makarova2Higher State Education Institution of Ukraine “Bukovinian State Medical University”, Chernivtsi, UkraineHigher State Education Institution of Ukraine “Bukovinian State Medical University”, Chernivtsi, UkraineHigher State Education Institution of Ukraine “Bukovinian State Medical University”, Chernivtsi, UkraineThe article presents the results of literature review on Rabson-Mendenhall syndrome and a clinical case of this syndrome in an adolescent girl. The cause of insulin resistance in Rabson-Mendenhall syndrome is a mutation of the insulin receptor gene (INSR). Rabson-Mendenhall syndrome occurs in children of both sexes. The prevalence of the disease is unknown. The genetic risk for descendants is high. Karyotype is normal. Most of the patients have additional features of this syndrome. Symptoms of Rabson-Mendenhall syndrome differ in each case, but it can be suspected already in the first year of life for the lag in weight gain, malformations (coarse facial features, abnormal teeth, hyperpigmentation), abnormally dry skin, hyperglycemia and insulin resistance, as well as additional features (enlarged abdomen, abnormal clitoris, frequent vomiting, ketoacidosis). The diagnosis is confirmed by genetic researches. The present clinical case might be interesting in terms of combination of duodenum ulcer and labile diabetes mellitus, which manifested by frequent episodes of ketoacidosis, and features of INSR mutations.http://childshealth.zaslavsky.com.ua/article/view/104234insulin resistancemutations of the insulin receptor geneRabson-Mendenhall syndrome |
| spellingShingle | T.V. Sorokman P.M. Moldovan O.V. Makarova A special case of insulin resistance in a 12-year-old girl (Rabson-Mendenhall syndrome) Zdorovʹe Rebenka insulin resistance mutations of the insulin receptor gene Rabson-Mendenhall syndrome |
| title | A special case of insulin resistance in a 12-year-old girl (Rabson-Mendenhall syndrome) |
| title_full | A special case of insulin resistance in a 12-year-old girl (Rabson-Mendenhall syndrome) |
| title_fullStr | A special case of insulin resistance in a 12-year-old girl (Rabson-Mendenhall syndrome) |
| title_full_unstemmed | A special case of insulin resistance in a 12-year-old girl (Rabson-Mendenhall syndrome) |
| title_short | A special case of insulin resistance in a 12-year-old girl (Rabson-Mendenhall syndrome) |
| title_sort | special case of insulin resistance in a 12 year old girl rabson mendenhall syndrome |
| topic | insulin resistance mutations of the insulin receptor gene Rabson-Mendenhall syndrome |
| url | http://childshealth.zaslavsky.com.ua/article/view/104234 |
| work_keys_str_mv | AT tvsorokman aspecialcaseofinsulinresistanceina12yearoldgirlrabsonmendenhallsyndrome AT pmmoldovan aspecialcaseofinsulinresistanceina12yearoldgirlrabsonmendenhallsyndrome AT ovmakarova aspecialcaseofinsulinresistanceina12yearoldgirlrabsonmendenhallsyndrome AT tvsorokman specialcaseofinsulinresistanceina12yearoldgirlrabsonmendenhallsyndrome AT pmmoldovan specialcaseofinsulinresistanceina12yearoldgirlrabsonmendenhallsyndrome AT ovmakarova specialcaseofinsulinresistanceina12yearoldgirlrabsonmendenhallsyndrome |