Isolated thyroid-stimulating hormone deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PITUITARY CRETINISM THYROTROPIN, BIOLOGICALLY INACTIVE, INCLUDED
TSH DEFICIENCY
THYROTROPIN DEFICIENCY, ISOLATED
THYROID-STIMULATING HORMONE DEFICIENCY
CHNG4
Isolated TSH deficiency
Number of Symptoms 28
OrphanetNr: 90674
OMIM Id: 275100
ICD-10: E03.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Central congenital hypothyroidism
 -Rare endocrine disease
 -Rare genetic disease
Nonacquired pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
2
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
3
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
4
 (HPO:0000260) Wide anterior fontanel 55 / 7739
5
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
8
 (HPO:0010864) Intellectual disability, severe 120 / 7739
9
 (HPO:0002360) Sleep disturbance Very frequent [Orphanet] 113 / 7739
10
 (HPO:0000851) Congenital hypothyroidism 16 / 7739
11
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
12
 (HPO:0001539) Omphalocele 102 / 7739
13
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
14
 (HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
15
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
16
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
17
 (HPO:0008850) Severe postnatal growth retardation 16 / 7739
18
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
19
 (HPO:0001615) Hoarse cry 5 / 7739
20
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
21
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
22
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
23
 (HPO:0010547) Muscle flaccidity 466 / 7739
24
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
 (OMIM) Open posterior fontanelle 1 / 7739
26
 (OMIM) Growth retardation, severe (if untreated) 5 / 7739
27
 (OMIM) Hypothyroidism, nongoitrous 2 / 7739
28
 (OMIM) Low to normal TSH (values may vary depending on the measurement methods used) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The first familial incidence of isolated thyrotropin deficiency was reported by Miyai et al. (1971), who observed 2 affected sisters. Synthetic thyrotropin-releasing hormone (TRH) resulted in no rise in serum TSH levels. (Thyrotropin is more generally known as ...
Molecular genetics OMIM In 2 sisters with isolated TSH deficiency, born of consanguineous parents, Hayashizaki et al. (1989) found homozygosity for a missense mutation (G29R; 188540.0001) in the TSHB gene.

In affected members of 2 related Greek families with ...