Isolated thyroid-stimulating hormone deficiency

MONDO:0010139

Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

Also known as: CHNG4, hypothyroidism, congenital, nongoitrous 4, hypothyroidism, congenital, nongoitrous, type 4, isolated TSH deficiency, isolated thyrotropin deficiency, TSH deficiency, congenital nongoitrous hypothyroidism 4, hypothyroidism, congenital, nongoitrous, 4

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) Hereditary endocrine growth disease (24) Human disease (14) Congenital hypothyroidism (10) Disease of genetic or genomic mechanism (2) Central congenital hypothyroidism (1)

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

Isolated thyroid-stimulating hormone deficiency

Broader categories

Newborn screening study aims to catch rare diseases at birth