Publications by authors named "A Campos-Martorell"
Article Synopsis
- Genetic defects in the TSH receptor can lead to various thyroid issues, such as thyroid dysgenesis or dyshormonogenesis, resulting in a wide range of symptoms from severe congenital hypothyroidism to mild hormonal imbalances.
- A study analyzed 160 pediatric patients with thyroid dyshormonogenesis using high-throughput gene panels and in vitro tests to assess the impact of recognized genetic variants on thyroid function.
- The findings showed that out of the patients studied, 3.13% had significant genetic variants affecting their thyroid health, with different variants exhibiting varying levels of functional impact, underscoring the necessity of genetic testing for accurate diagnosis.
Introduction: Defects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to () gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum, ranging from mild to severe permanent hypothyroidism. We present high-throughput sequencing results of patients with variants.
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- Congenital X-linked adrenal hypoplasia is a rare genetic disorder marked by adrenal insufficiency and other varied clinical symptoms.
- A case of a 26-day-old male newborn showed signs of adrenal insufficiency, which prompted hormone testing that revealed elevated ACTH and low aldosterone levels, while tests for other conditions were normal.
- The diagnosis of congenital adrenal hypoplasia was confirmed through expanded genetic testing after detecting cortisol deficiency, highlighting the complexity and need for thorough investigation in such cases.
Background: Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2-6% of all intracranial neoplasms. Delayed puberty, growth retardation, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs, with the most frequent being prolactinomas.
View Article and Find Full Text PDFGenetic tests have led to the discovery of many novel genetic variants related to growth failure, but the clinical significance of some results is not always easy to establish. The aim of this report is to describe both clinical phenotype and genetic characteristics in an adult patient with short stature associated with a homozygous variant in disintegrin and metalloproteinase with thrombospondin motifs type 17 gene () combined with a homozygous variant in the GH secretagogue receptor (). The index case had severe short stature (SS) (-3.
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