Dataset Information

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.

ABSTRACT: 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 (TR?) 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 TR? that establishes a diagnosis of RTH?. This case report demonstrates a rare form of TH resistance due to mutation of TR?. 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.

SUBMITTER: Al Shidhani A

PROVIDER: S-EPMC7897355 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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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.

Al Shidhani Azza A Ullah Irfan I AlSaffar Hussain H Al Kindi Adila A Al Nabhani Hameeda H Al Yaarubi Saif S

Oman medical journal 20210131 1

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 clas ...[more]

PMID: 33628462

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Project description:BACKGROUND:Donor countries in the Middle East and North Africa (MENA) including Saudi Arabia, Kuwait and United Arab Emirates (UAE) have been among the largest donors in the world. However, little is known about their contributions for health. In this study, we addressed this gap by estimating the amount of development assistance for health (DAH) contributed by MENA country donors from 2000 to 2017. METHODS:We tracked DAH provided and received by the MENA region leveraging publicly available development assistance data in the Development Assistance Committee (DAC) database of the Organisation for Economic Co-operation and Development (OECD), government agency reports and financial statements from key international development agencies. We generated estimates of DAH provided by the three largest donor countries in the MENA region (UAE, Kuwait, Saudi Arabia) and compared contributions to their relative gross domestic product (GDP) and government spending; We captured DAH contributions by other MENA country governments (Egypt, Iran, Qatar, Turkey, etc.) disbursed through multilateral agencies. Additionally, we compared DAH contributed from and provided to the MENA region. RESULTS:In 2017, DAH contributed by the MENA region reached $514.8 million. While UAE ($220.1 million, 43.2%), Saudi Arabia ($177.3 million, 34.8%) and Kuwait ($59.8 million, 11.6%) as sources contributed the majority of DAH in 2017, 58.5% of total DAH from MENA was disbursed through their bilateral agencies, 12.0% through the World Health Organization (WHO) and 3.3% through other United Nations agencies. 44.8% of DAH contributions from MENA was directed to health system strengthening/sector-wide approaches. Relative to their GDP and government spending, DAH level fluctuated across 2000 to 2017 but UAE and Saudi Arabia indicated increasing trends. While considering all MENA countries as recipients, only 10.5% of DAH received by MENA countries were from MENA donors in 2017. CONCLUSION:MENA country donors especially UAE, Saudi Arabia and Kuwait have been providing substantial amount of DAH, channeled through their bilateral agencies, WHO and other multilateral agencies, with a prioritized focus on health system strengthening. DAH from the MENA region has been increasing for the past decade and could lend itself to important contributions for the region and the globe.

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Dataset Information

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.

Publications

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.

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