Familial thyroid dyshormonogenesis

MONDO:0010132

A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.

Also known as: dyshormonogenesis, nongoitrous hyperthyrotropinemia, thyroid dyshormonogenesis

5 clinical trials for this condition and its sub-types, 1 tagged with Familial thyroid dyshormonogenesis itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Congenital hypothyroidism (14) ↑ Inherited thyroid metabolism disease (8)

Sub-types of Familial thyroid dyshormonogenesis

Including sub-types (5) Tagged with Familial thyroid dyshormonogenesis (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

Familial thyroid dyshormonogenesis

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth