Central congenital hypothyroidism

MONDO:0016410

Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.

Also known as: TSH deficiency, central hypothyroidism, hypothalamic-pituitary hypothyroidism, secondary hypothyroidism, thyroid stimulating hormone deficiency, thyrotropin deficiency

2 clinical trials for this condition and its sub-types.

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Sub-types

Isolated thyroid-stimulating hormone deficiency (1) Hypothyroidism, congenital, nongoitrous, 7 (0) Hypothyroidism due to deficient transcription factors involved in pituitary development or function (0) Isolated thyrotropin-releasing hormone deficiency (0) X-linked central congenital hypothyroidism with late-onset testicular enlargement (0)

Broader categories

Disease (680) Thyroid gland disorder (89) Endocrine system disorder (72) Hypothyroidism (42) Hereditary endocrine growth disease (24) Human disease (14) Congenital hypothyroidism (10) Permanent congenital hypothyroidism (1) Disease by body system or component (0)

Trials to join now! 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

Central congenital hypothyroidism

Sub-types

Broader categories

Newborn screening study aims to catch rare diseases at birth