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

Orpha code: 171706OMIM code: 609698

Definition

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.

Disease data
Classification

Disease

ORPHA code
171706
OMIM code
609698
ICD10 code
E03.1
ICD11 code
-

No additional description.

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