Central congenital hypothyroidism

Summary

Central congenital hypothyroidism (MONDO:0016410) is a disease (an umbrella term covering 5 Mondo subtypes) and 6 clinical trials. Top therapeutic interventions include levothyroxine, liothyronine, and protirelin. A subtype of permanent congenital hypothyroidism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Umbrella term: 5 Mondo subtypes
• Clinical trials: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	central congenital hypothyroidism
Mondo ID	MONDO:0016410
Orphanet	226298
ICD-11	848364569
NCIT	C113144
UMLS	C4302200
MedGen	927869
GARD	0012280
Is cancer (heuristic)	no

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

Disease family

This is a subtype of permanent congenital hypothyroidism. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › endocrine system disorder › hereditary endocrine growth disease › permanent congenital hypothyroidism › central congenital hypothyroidism

Related subtypes (1): peripheral hypothyroidism

Subtypes (5): isolated thyroid-stimulating hormone deficiency, isolated thyrotropin-releasing hormone deficiency, X-linked central congenital hypothyroidism with late-onset testicular enlargement, hypothyroidism due to deficient transcription factors involved in pituitary development or function, hypothyroidism, congenital, nongoitrous, 7

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	5
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00360074	PHASE4	COMPLETED	Phase 4 Study in Secondary Hypothyroidism: Body Weight Adapted Thyroxin Treatment and Triiodothyronine Supplementation
NCT05276856	Not specified	RECRUITING	Recovery Rate in Secondary Hypothyroidism
NCT01280292	Not specified	UNKNOWN	Central Hypothyroidism, a Novel Laboratory Measurement
NCT03823859	Not specified	COMPLETED	Metabolomics of Thyroid Hormones
NCT04767763	Not specified	COMPLETED	Thyroid Function in Critically Ill Patients With Acute Kidney Injury
NCT05752591	Not specified	COMPLETED	Hypothalamic-pituitary Dysfunction in Diabetes

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LEVOTHYROXINE	4	3
LIOTHYRONINE	4	3
PROTIRELIN	4	1
RATHYRONINE	2	1