Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Abnormal thyroid hormone metabolism

Short stature-delayed bone age due to thyroid hormone metabolism deficiency is an autosomal recessive disorder caused by mutations of the SECISBP2 gene.

Systematic

Thyroid hormone resistance
Abnormal thyroid hormone metabolism
SECISBP2
Allan-Herndon-Dudley syndrome
RXRA
Thyroid hormone resistance, generalized, autosomal dominant
Thyroid hormone resistance, generalized, autosomal recessive
Thyroid hormone resistance, selective pituitary

References:

1.

Dumitrescu AM et al. (2005) Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.

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2.

OMIM.ORG article

Omim 609698 [^]
3.

Orphanet article

Orphanet ID 171706 [^]
Update: April 29, 2019