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

2 clinical trials for this condition and its sub-types, 1 tagged with Isolated thyroid-stimulating hormone deficiency itself.

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Where it sits in the disease tree

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↑ Non-acquired pituitary hormone deficiency (84) ↑ Central congenital hypothyroidism (2) ↑ Hypothyroidism, congenital, nongoitrous (1)

Including sub-types (2) Tagged with Isolated thyroid-stimulating hormone deficiency (1)

Trials to join now! 1 Not yet finished but already full! 1

Scientists watch thyroid conditions unfold in 2,500 patients

Knowledge-focused Recruiting now

This study follows up to 2,500 people with thyroid problems like hyperthyroidism, hypothyroidism, or Graves' disease. Researchers will track how these conditions develop over time using standard medical tests and genetic samples. The goal is to better understand the natural histo…

Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused

Last updated Sep 18, 2026 00:00 UTC

Isolated thyroid-stimulating hormone deficiency

Where it sits in the disease tree

Scientists watch thyroid conditions unfold in 2,500 patients