Thyroid hormones (TH) play a pivotal role in the development and function of the mammalian brain. Patients with impaired thyroid hormone transport into the brain tissue or in the case of defective local thyroid hormone receptor (collectively referred to as thyroid hormone resistance) subsequently experience psychomotor disabilities.
The "DEEPTYPE" registry has been established with the objective of intensifying the genotyping and, in particular, the neurological phenotyping of patients exhibiting deficiencies in either the thyroid hormone transporter (MCT8) or the thyroid hormone receptor alpha (THRα). The objective of this registry-based study is to enhance the diagnostic yield for MCT8 and THRα deficiencies by employing the serum fT3/fT4 ratio as a more sophisticated screening parameter. Furthermore, the investigators will study the genomic regulation of both genes and attempt to identify further coding and non-coding mutations that result in TH resistance. The patient registry "DEEPTYPE" will document the retrospective and prospective clinical data of identified children in a comprehensive manner. This will enable the identification of three key groups: (i) patients with non-coding mutations, (ii) patients with milder phenotypes presenting only with a subset of symptoms seen in both "classic" conditions, and (iii) patients who are ready for clinical trials.
Presence of a coding or non-coding mutation in SLC16A2
Presence of a coding or non-coding mutation in THRA
Abnormal fT3/fT4 ratio in the serum
Written informed consent of the caregivers for participation in the register study
Withdrawal of consent
Correction/change of the molecular diagnosis
* Patients with THRα deficiency =\> Patients in whom a coding or non-coding pathogenic mutation was found in the THRA-gene or its regulating genomic regions (e.g. enhancers, promoters) * Patients with MCT8 deficiency =\> Patients in whom a coding or non-coding pathogenic mutation was found in the SLC16A2-gene or its regulating genomic regions (e.g. enhancers, promoters)
Case-only
Other
no intervention
Other interventionregister study without intervention
Description of infant motor and language development
Bayley Scales of Infant and Toddler Development III =\> (Units on a Scale and Sum Score)
Description of neurological abnormalities
Hammersmith Infant Neurological Examination (HINE) =\> (Units on a Scale and Sum Score)
Description of motor development
Gross Motor Function Measure (GMFM-88) =\> (Units on a Scale and Sum Score)
body weight
kilograms
body length
centimeters
head circumference
centimeters
Reponse to therapies (e.g. Triac, DIPTA, levodopa/carbidopa)
Recording of responses to standard and experimental therapies
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