Short stature-delayed bone age due to thyroid hormone metabolism deficiency

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Short stature-delayed bone age due to thyroid hormone metabolism deficiency

Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood short stature delayed bone age and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations low T3 high reverse T3 normal to high TSH decreased selenium). Intellectual disability primary infertility hypotonia muscle weakness and impaired hearing have also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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