Resistencia a hormonas tiroideas y trastorno por déficit de atención e hiperactividad

López, Amparo; Navarro, José Carlos; Belmonte, María Jesús Maldonado; Martín, M.B. Roldán

doi:10.1016/j.anpedi.2012.08.011

Cited by 3 publications

(3 citation statements)

References 9 publications

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“…The 5-year-old affected son presented from early childhood with an extreme phenotype of hyperactivity, restlessness, aggressive behavior, interrupted sleep, hyper-impulsivity and difficulty at school. These features are quite suggestive of ADHD and this patient was referred for evaluation by a child psychiatrist to confirm this disorder, which is a well-recognized presentation of RTH in childhood ( 1 , 8 , 9 , 10 ). The feedback from initial childhood psychiatric evaluation was supportive of the diagnosis of ADHD.…”

Section: Discussionmentioning

confidence: 94%

Resistance to thyroid hormone-beta co-existing with partially empty sella in a Jordanian male

Mohareb

Malki

Mueller³

et al. 2018

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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SummaryResistance to thyroid hormone-beta (RTHbeta) is a rare inherited syndrome characterized by variable reduced tissue responsiveness to the intracellular action of triiodothyronine (T3), the active form of the thyroid hormone. The presentation of RTHbeta is quite variable and mutations in the thyroid hormone receptor beta (THR-B) gene have been detected in up to 90% of patients. The proband was a 34-year-old Jordanian male who presented with intermittent palpitations. His thyroid function tests (TFTs) showed a discordant profile with high free T4 (FT4) at 45.7 pmol/L (normal: 12–22), high free T3 (FT3) at 11.8 pmol/L (normal: 3.1–6.8) and inappropriately normal TSH at 3.19 mIU/L (normal: 0.27–4.2). Work up has confirmed normal alpha subunit of TSH of 0.1 ng/mL (normal <0.5) and pituitary MRI showed no evidence of a pituitary adenoma; however, there was an interesting coincidental finding of partially empty sella. RTHbeta was suspected and genetic testing confirmed a known mutation in the THR-B gene, where a heterozygous A to G base change substitutes valine for methionine at codon 310. Screening the immediate family revealed that the eldest son (5 years old) also has discordant thyroid function profile consistent with RTHbeta and genetic testing confirmed the same M310V mutation that his father harbored. Moreover, the 5-year-old son had hyperactivity, impulsivity and aggressive behavior consistent with attention deficit hyperactivity disorder (ADHD). This case demonstrates an unusual co-existence of RTHbeta and partially empty sella in the same patient which, to our knowledge, has not been reported before.Learning points:We report the coincidental occurrence of RTHbeta and a partially empty sella in the same patient that has not been previously reported.TFTs should be done in all children who present with symptoms suggestive of ADHD as RTHbeta is a common finding in these children.The management of children with ADHD and RTHbeta could be challenging for both pediatricians and parents and the administration of T3 with close monitoring may be helpful in some cases.Incidental pituitary abnormalities do exist in patients with RTHbeta, although extremely rare, and should be evaluated thoroughly and separately.

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Section: Discussionmentioning

confidence: 94%

Resistance to thyroid hormone-beta co-existing with partially empty sella in a Jordanian male

Mohareb

Malki

Mueller³

et al. 2018

Endocrinology, Diabetes &Amp; Metabolism Case Reports

View full text Add to dashboard Cite

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“…ADHD is known to be associated with impairments in attention and with changes in fronto-parietal networks [ 46 ], which is relevant because RTHß patients, including participants in the current study, exhibit an ADHD-like phenotype [ 16 – 19 ]. Indeed, increased parietal cortical thickness has also been shown in adult subjects with conventional ADHD [ 47 , 48 ] whereas reduced cortical thickness was seen in children and adolescents with ADHD [ 49 – 51 ].…”

Section: Discussionmentioning

confidence: 99%

“…Typical phenotypes in RTHβ include goiter, resting tachycardia, recurrent ear infections in childhood causing hearing loss, altered photoreceptor function and attention-deficit hyperactivity disorder (ADHD) [ 13 – 15 ]. Indeed, previous studies suggest that ADHD is the main neurocognitive abnormality in RTHβ, with approximately half of RTHβ patients exhibiting an ADHD-like phenotype [ 16 – 19 ].…”

Section: Introductionmentioning

confidence: 99%

Changes in brain structure in subjects with resistance to thyroid hormone due to THRB mutations

Rogge,

Heldmann,

Chatterjee

et al. 2023

Thyroid Res

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Background Being critical for brain development and neurocognitive function thyroid hormones may have an effect on behaviour and brain structure. Our exploratory study aimed to delineate the influence of mutations in the thyroid hormone receptor (TR) ß gene on brain structure. Methods High-resolution 3D T1-weighted images were acquired in 21 patients with a resistance to thyroid hormone ß (RTHß) in comparison to 21 healthy matched-controls. Changes in grey and white matter, as well as cortical thickness were evaluated using voxel-based morphometry (VBM) and diffusion tensor imaging (DTI). Results RTHß patients showed elevated circulating fT4 & fT3 with normal TSH concentrations, whereas controls showed normal thyroid hormone levels. RTHß patients revealed significantly higher scores in a self-rating questionnaire for attention deficit hyperactivity disorder (ADHD). Imaging revealed alterations of the corticospinal tract, increased cortical thickness in bilateral superior parietal cortex and decreased grey matter volume in bilateral inferior temporal cortex and thalamus. Conclusion RTHb patients exhibited structural changes in multiple brain areas. Whether these structural changes are causally linked to the abnormal behavioral profile of RTHß which is similar to ADHD, remains to be determined.

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Neuropsychologische Effekte durch Veränderungen von Schilddrüsenhormonen, -rezeptoren und -transportern

Göbel

2020

Zeitschrift für Neuropsychologie

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Zusammenfassung. Schilddrüsenhormone interagieren mit mannigfaltigen physiologischen und psychologischen Funktionen des Körpers. In dieser Übersichtsarbeit werden Effekte durch Variationen von Schilddrüsenhormonen, der Schilddrüsenhormonrezeptoren und der Schilddrüsenhormontransporter auf psychoneuroendokrinologische Mechanismen beschrieben. Erhöhte oder erniedrigte Serum-Konzentration der Schilddrüsenhormone beeinflussen u.a. die kognitive Entwicklung in der Kindheit, Arbeitsgedächtnis, Aufmerksamkeit, Konzentration und exekutive Funktionen. Schilddrüsenhormone interagieren zudem mit der Psychomotorik, der Sprachentwicklung, der Kognition und den intellektuellen Fähigkeiten. Veränderungen in Schilddrüsenhormon-Transportern können die Ängstlichkeit, die Risikobereitschaft und andere Emotionen modulieren. Die wissenschaftliche Analyse und das Verständnis dieser komplexen Interaktionen ist für die gezielte Prävention und die Behandlung zahlreicher schwerwiegender und lebenslanger Erkrankungen von zentraler Bedeutung.

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Resistencia a hormonas tiroideas y trastorno por déficit de atención e hiperactividad

Cited by 3 publications

References 9 publications

Resistance to thyroid hormone-beta co-existing with partially empty sella in a Jordanian male

Resistance to thyroid hormone-beta co-existing with partially empty sella in a Jordanian male

Changes in brain structure in subjects with resistance to thyroid hormone due to THRB mutations

Neuropsychologische Effekte durch Veränderungen von Schilddrüsenhormonen, -rezeptoren und -transportern

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