Pituitary hormone deficiency, combined, 1
- Synonyms
- POU1F1-Related Combined Pituitary Hormone Deficiency; Pituitary hormone deficiency, combined or isolated, 1
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (42 available)
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Concave nasal ridge
Concave nasal ridge
- MedGen UID: 78105
- Concept ID: C0264169
- Finding: Finding
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
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Prominent forehead
Prominent forehead
- MedGen UID: 373291
- Concept ID: C1837260
- Finding: Finding
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Jaundice
Jaundice
- MedGen UID: 43987
- Concept ID: C0022346
- Finding: Sign or Symptom
Abnormality of the digestive system
- Prolonged neonatal jaundice
Prolonged neonatal jaundice
- MedGen UID: 347108
- Concept ID: C1859236
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the endocrine system
- Decreased circulating free T3
Decreased circulating free T3
- MedGen UID: 1687899
- Concept ID: C5139195
- Finding: Finding
Abnormality of the endocrine system
- Decreased circulating free T4 concentration
Decreased circulating free T4 concentration
- MedGen UID: 1743550
- Concept ID: C5421592
- 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
- Impaired growth-hormone response to insulin stimulation test
Impaired growth-hormone response to insulin stimulation test
- MedGen UID: 1374054
- Concept ID: C4476958
- 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
- Reduced circulating growth hormone concentration
Reduced circulating growth hormone concentration
- MedGen UID: 1815075
- Concept ID: C5706169
- Finding: Finding
Abnormality of the endocrine system
- Decreased circulating free T3
- Abnormality of the eye
- Deeply set eye
Deeply set eye
- MedGen UID: 473112
- Concept ID: C0423224
- Finding: Finding
Abnormality of the eye
- Deeply set eye
- Abnormality of the integument
- Pretibial myxedema
Pretibial myxedema
- MedGen UID: 450990
- Concept ID: C0033103
- Finding: Disease or Syndrome
Abnormality of the integument
- Pretibial myxedema
- Abnormality of the musculoskeletal system
- Delayed cranial suture closure
Delayed cranial suture closure
- MedGen UID: 75805
- Concept ID: C0277828
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed cranial suture closure
- Abnormality of the nervous system
- Anterior pituitary hypoplasia
Anterior pituitary hypoplasia
- MedGen UID: 347950
- Concept ID: C1859775
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Hypopituitarism
Hypopituitarism
- MedGen UID: 9386
- Concept ID: C0020635
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Isolated prolactin deficiency
Isolated prolactin deficiency
- MedGen UID: 75758
- Concept ID: C0271586
- Finding: Finding
Abnormality of the nervous system
- Anterior pituitary hypoplasia
- Abnormality of the voice
- Hoarse voice
Hoarse voice
- MedGen UID: 5602
- Concept ID: C0019825
- Finding: Sign or Symptom
Abnormality of the voice
- Hoarse voice
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Severe postnatal growth retardation
Severe postnatal growth retardation
- MedGen UID: 347510
- Concept ID: C1857641
- Finding: Finding
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Failure to thrive
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.