" /> Hypothyroidism, congenital, nongoitrous, 4 - CISMeF





Preferred Label : Hypothyroidism, congenital, nongoitrous, 4;

Symbol : CHNG4;

CISMeF acronym : CHNG4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thyrotropin deficiency, isolated; Thyroid-stimulating hormone deficiency; Tsh deficiency; Pituitary cretinism;

Included titles and symbols : Thyrotropin, biologically inactive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thyroid-stimulating hormone, beta polypeptide gene (TSHB, 188540.0001);

Laboratory abnormalities : Low to normal TSH (values may vary depending on the measurement methods used);

Prefixed ID : #275100;

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27/07/2025


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