Isolated thyroid-stimulating hormone deficiency
- Synonyms
- Hypothryoidism, congenital, nongoitrous 4; Pituitary cretinism; THYROID-STIMULATING HORMONE DEFICIENCY; TSH deficiency; Thyroid-stimulating hormone, deficiency of; Thyrotropin deficiency, isolated
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (17 available)
Clinical features
Help- Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Macroglossia
Macroglossia
- MedGen UID: 44236
- Concept ID: C0024421
- Finding: Disease or Syndrome
Abnormality of head or neck
- Depressed nasal bridge
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the endocrine system
- Decreased circulating T4 concentration
Decreased circulating T4 concentration
- MedGen UID: 1611997
- Concept ID: C4531078
- Finding: Finding
Abnormality of the endocrine system
- Decreased thyroid-stimulating hormone level
Decreased thyroid-stimulating hormone level
- MedGen UID: 717708
- Concept ID: C1295607
- Finding: Finding
Abnormality of the endocrine system
- Hypothyroidism
Hypothyroidism
- MedGen UID: 6991
- Concept ID: C0020676
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Decreased circulating T4 concentration
- Abnormality of the integument
- Dry skin
Dry skin
- MedGen UID: 56250
- Concept ID: C0151908
- Finding: Sign or Symptom
Abnormality of the integument
- Dry skin
- Abnormality of the musculoskeletal system
- Congenital omphalocele
Congenital omphalocele
- MedGen UID: 162756
- Concept ID: C0795690
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Wide anterior fontanel
Wide anterior fontanel
- MedGen UID: 400926
- Concept ID: C1866134
- Finding: Finding
Abnormality of the musculoskeletal system
- Congenital omphalocele
- Abnormality of the nervous system
- Intellectual disability, progressive
Intellectual disability, progressive
- MedGen UID: 337397
- Concept ID: C1846149
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability, severe
Intellectual disability, severe
- MedGen UID: 48638
- Concept ID: C0036857
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, progressive
- Abnormality of the voice
- Hoarse cry
Hoarse cry
- MedGen UID: 394791
- Concept ID: C2678303
- Finding: Finding
Abnormality of the voice
- Hoarse cry
- Growth abnormality
- Severe postnatal growth retardation
Severe postnatal growth retardation
- MedGen UID: 347510
- Concept ID: C1857641
- Finding: Finding
Growth abnormality
- Severe postnatal growth retardation
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