Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa
The physiological actions of thyroid hormone (TH) are mediated through TH alpha and TH beta receptors. Resistance to TH (RTH) is characterized by a lack of peripheral tissues’ response to the active form of TH. TH receptor beta has been extensively studied. Mutations in this receptor were considered...
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| Format: | Article |
| Language: | English |
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Oman Medical Specialty Board
2021-01-01
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| Series: | Oman Medical Journal |
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| Online Access: | http://omjournal.org/articleDetails.aspx?coType=1&aId=2856 |
| _version_ | 1818965858961063936 |
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| author | Azza Al Shidhani Irfan Ullah Hussain AlSaffar Adila Al Kindi Hameeda Al Nabhani Saif Al Yaarubi |
| author_facet | Azza Al Shidhani Irfan Ullah Hussain AlSaffar Adila Al Kindi Hameeda Al Nabhani Saif Al Yaarubi |
| author_sort | Azza Al Shidhani |
| collection | DOAJ |
| description | The physiological actions of thyroid hormone (TH) are mediated through TH alpha and TH beta receptors. Resistance to TH (RTH) is characterized by a lack of peripheral tissues’ response to the active form of TH. TH receptor beta has been extensively studied. Mutations in this receptor were considered the main reason for TH resistance for some time up until the discovery of mutations in TH receptor alpha (TRα) that has attained more focus and interest in recent years. A 13-year-old child with classic hypothyroidism features (coarse facies, growth and developmental delay, skeletal dysplasia, generalized muscular hypertrophy, and severe constipation) associated with near-normal thyroid hormone levels, which did not support the diagnosis of hypothyroidism biochemically. Therefore, progressing with whole-exome sequencing had revealed a de novo heterozygous mutation in a gene encoding TRα that establishes a diagnosis of RTHα. This case report demonstrates a rare form of TH resistance due to mutation of TRα. It also emphasizes that THs act through distinctive receptor subtypes in different target tissues. Moreover, this report aims to raise awareness about this genetic mutation, which is thought to be more common than expected. However, due to its subtle features and insidious presentation, many cases remain undiagnosed; hence, the disorder’s exact incidence is unknown. |
| first_indexed | 2024-12-20T13:23:42Z |
| format | Article |
| id | doaj.art-53bdf68838664514bf873da0eed59f3f |
| institution | Directory Open Access Journal |
| issn | 1999-768X 2070-5204 |
| language | English |
| last_indexed | 2024-12-20T13:23:42Z |
| publishDate | 2021-01-01 |
| publisher | Oman Medical Specialty Board |
| record_format | Article |
| series | Oman Medical Journal |
| spelling | doaj.art-53bdf68838664514bf873da0eed59f3f2022-12-21T19:39:20ZengOman Medical Specialty BoardOman Medical Journal1999-768X2070-52042021-01-01361e226e22610.5001/omj.2021.20Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North AfricaAzza Al Shidhani0Irfan Ullah1Hussain AlSaffar2Adila Al Kindi3Hameeda Al Nabhani4Saif Al Yaarubi5Child Health Department, Sultan Qaboos University Hospital, Muscat, OmanChild Health Department, Sultan Qaboos University Hospital, Muscat, OmanChild Health Department, Sultan Qaboos University Hospital, Muscat, OmanGenetic Department, Sultan Qaboos University Hospital, Muscat, OmanPediatric Department, Nizwa Hospital, Nizwa, Muscat, OmanChild Health Department, Sultan Qaboos University Hospital, Muscat, OmanThe physiological actions of thyroid hormone (TH) are mediated through TH alpha and TH beta receptors. Resistance to TH (RTH) is characterized by a lack of peripheral tissues’ response to the active form of TH. TH receptor beta has been extensively studied. Mutations in this receptor were considered the main reason for TH resistance for some time up until the discovery of mutations in TH receptor alpha (TRα) that has attained more focus and interest in recent years. A 13-year-old child with classic hypothyroidism features (coarse facies, growth and developmental delay, skeletal dysplasia, generalized muscular hypertrophy, and severe constipation) associated with near-normal thyroid hormone levels, which did not support the diagnosis of hypothyroidism biochemically. Therefore, progressing with whole-exome sequencing had revealed a de novo heterozygous mutation in a gene encoding TRα that establishes a diagnosis of RTHα. This case report demonstrates a rare form of TH resistance due to mutation of TRα. It also emphasizes that THs act through distinctive receptor subtypes in different target tissues. Moreover, this report aims to raise awareness about this genetic mutation, which is thought to be more common than expected. However, due to its subtle features and insidious presentation, many cases remain undiagnosed; hence, the disorder’s exact incidence is unknown.http://omjournal.org/articleDetails.aspx?coType=1&aId=2856thyroid hormone resistance syndromereceptorsthyroid hormonewhole exome sequencingmutation |
| spellingShingle | Azza Al Shidhani Irfan Ullah Hussain AlSaffar Adila Al Kindi Hameeda Al Nabhani Saif Al Yaarubi Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa Oman Medical Journal thyroid hormone resistance syndrome receptors thyroid hormone whole exome sequencing mutation |
| title | Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa |
| title_full | Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa |
| title_fullStr | Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa |
| title_full_unstemmed | Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa |
| title_short | Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa |
| title_sort | thyroid hormone resistance due to a novel de novo mutation in thyroid hormone receptor alpha first case report from the middle east and north africa |
| topic | thyroid hormone resistance syndrome receptors thyroid hormone whole exome sequencing mutation |
| url | http://omjournal.org/articleDetails.aspx?coType=1&aId=2856 |
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