Thyroid Dyshormonogenesis 3

Alternative Names

TDH3
Thyroid Hormonogenesis, Genetic Defect in, 3
Hypothyroidism, Congenital, due to Dyshormonogenesis, 3

Associated Genes

Thyroglobulin

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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Disorders of thyroid gland

OMIM Number

274700

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8q24.22

Description

Thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the disorder in the majority of patients causes large goiters of elastic and soft consistency. Although the degree of thyroid dysfunction varies considerably among patients with defective TG synthesis, patients usually have a relatively high serum free T3 concentration with disproportionately low free T4 level. The maintenance of relatively high FT3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases. [From OMIM]

Epidemiology in the Arab World

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Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
274700.1.1	Saudi Arabia	Male	Yes	Yes	Congenital hypothyroidism Congenital hypothyroidism	NM_003235.5:c.475C>T	Homozygous	Autosomal, Recessive	Nicholas et al. 2016
274700.1.2	Saudi Arabia	Male	Yes	Yes	Congenital hypothyroidism Congenital hypothyroidism	NM_003235.5:c.475C>T	Homozygous	Autosomal, Recessive	Nicholas et al. 2016	Brother of 274700.1....
274700.2.1	Oman	Male	Yes	Yes	Congenital hypothyroidism Congenital hypothyroidism	NM_003235.5:c.6360del	Homozygous	Autosomal, Recessive	Nicholas et al. 2016
274700.2.2	Oman	Male	Yes	Yes	Congenital hypothyroidism Congenital hypothyroidism	NM_003235.5:c.6360del	Homozygous	Autosomal, Recessive	Nicholas et al. 2016	Brother of 274700.2....
274700.2.3	Oman	Male	Yes	Yes	Congenital hypothyroidism Congenital hypothyroidism	NM_003235.5:c.6360del	Homozygous	Autosomal, Recessive	Nicholas et al. 2016	Brother of 274700.2....
274700.3.1	Iraq	Male	Yes	Yes	Congenital hypothyroidism Congenital hypothyroidism	NM_003235.5:c.638+5G>A	Homozygous	Autosomal, Recessive	Nicholas et al. 2016
274700.3.2	Iraq	Female	Yes	Yes	Congenital hypothyroidism Congenital hypothyroidism	NM_003235.5:c.638+5G>A	Homozygous	Autosomal, Recessive	Nicholas et al. 2016	Sister of 274700.3.1
274700.4.1	Somalia	Female	Yes		Congenital hypothyroidism Congenital hypothyroidism	NM_003235.4:c.3433+3_3433+6del	Heterozygous	Autosomal, Recessive	Nicholas et al. 2016	The authors noted th...
274700.4.2	Somalia	Male	Yes		Congenital hypothyroidism Congenital hypothyroidism	NM_003235.4:c.3433+3_3433+6del	Heterozygous	Autosomal, Recessive	Nicholas et al. 2016	Brother of 274700.4....
274700.4.3	Somalia	Male	Yes		Congenital hypothyroidism Congenital hypothyroidism	NM_003235.4:c.3433+3_3433+6del	Heterozygous	Autosomal, Recessive	Nicholas et al. 2016	Brother of 274700.4....
274700.5.1	Yemen	Female	Yes		Congenital hypothyroidism Congenital hypothyroidism	NM_003235.5:c.2276A>G	Heterozygous	Autosomal, Recessive	Nicholas et al. 2016	The authors noted th...
274700.5.2	Yemen	Female	Yes		Congenital hypothyroidism Congenital hypothyroidism	NM_003235.5:c.2276A>G	Heterozygous	Autosomal, Recessive	Nicholas et al. 2016	Identical twin sibli...