Hypothyroidism due to TSH receptor mutations

MONDO:0010142

Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

Also known as: CHNG1, TSH resistance, hypothyroidism, congenital, nongoitrous, type 1, congenital nongoitrous hypothyroidism 1, hypothyroidism due to unresponsiveness to thyrotropin, hypothyroidism, Nonautoimmune, hypothyroidism, congenital, due to TSH resistance, hypothyroidism, congenital, nongoitrous, 1

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Thyroid gland disorder (89) Endocrine system disorder (72) Hypothyroidism (42) Human disease (14) Congenital hypothyroidism (10) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Hypothyroidism due to TSH receptor mutations

Broader categories

Newborn screening study aims to catch rare diseases at birth