Hypothyroidism, congenital, nongoitrous, 7
- Synonyms
- Resistance to thyrotropin-releasing hormone syndrome; Thyrotropin-releasing hormone resistance, generalized
Summary
Available tests
Clinical tests (7 available)
Molecular Genetics Tests
Clinical features
Help- 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
- Reduced TSH response to thyrotrophin-releasing hormone stimulation test
Reduced TSH response to thyrotrophin-releasing hormone stimulation test
- MedGen UID: 1759429
- Concept ID: C5421596
- Finding: Finding
Abnormality of the endocrine system
- Decreased circulating T4 concentration
- Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
- Abnormality of the nervous system
- Lethargy
Lethargy
- MedGen UID: 7310
- Concept ID: C0023380
- Finding: Sign or Symptom
Abnormality of the nervous system
- Lethargy
- Constitutional symptom
- Fatigue
Fatigue
- MedGen UID: 41971
- Concept ID: C0015672
- Finding: Sign or Symptom
Constitutional symptom
- Fatigue
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Growth delay
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.