Publications by authors named "Arancha Escribano"
Article Synopsis
- Maternal inactivating GNAS mutations cause pseudohypoparathyroidism 1A (PHP1A), leading to growth issues, hormone resistance, and other physical symptoms in affected individuals.
- A study examined the effects of recombinant human growth hormone (rhGH) on growth in 190 patients, comparing those who received treatment to untreated controls to evaluate height outcomes.
- Results showed that rhGH significantly improved height in treated patients after 1 and 3 years, highlighting its potential benefits, but further research is needed to ensure long-term safety and effectiveness.
Thyroxine (T4) to triiodothyronine (T3) deiodination in the hypothalamus/pituitary is mediated by deiodinase type-2 (D2) activity. mice show central resistance to exogenous T4. Patients with resistance to exogenous thyroxine (RETH) have not been described.
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- The study aimed to analyze the clinical, biochemical, and genetic characteristics of Mediterranean patients with resistance to thyroid hormone (RTH) caused by mutations in the TRβ gene over a 15-year period.
- A total of 166 blood samples were studied, leading to the identification of mutations in 50 patients, with a majority being women and an average diagnostic age of around 33 years.
- The research revealed notable clinical features like goiter and hyperkinetic behavior, and found four new mutations in the TRβ gene, adding to existing knowledge on RTH characteristics in this population.