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Pituitary dwarfism with large sella turcica

MedGen UID:
78778
Concept ID:
C0271575
Disease or Syndrome
Synonym: Pituitary Dwarfism with Large Sella Turcica
SNOMED CT: Pituitary dwarfism with large sella turcica (27270004); Familial enlargement of the sella turcica (27270004)
 
Monarch Initiative: MONDO:0009881
OMIM®: 262710

Clinical features

From HPO
Pituitary dwarfism
MedGen UID:
8506
Concept ID:
C0013338
Disease or Syndrome
A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Large sella turcica
MedGen UID:
334811
Concept ID:
C1843677
Finding
An abnormal enlargement of the sella turcica.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.
Decreased response to growth hormone stimulation test
MedGen UID:
1784655
Concept ID:
C5539399
Finding
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.

Recent clinical studies

Etiology

Dutta P, Gupta P, Singh P, Modi M, Srinivasan A, Mukherjee S, Rai A, Saini H, Sukhija JS, Bansal R, Bhansali A, Mukherjee KK
J Assoc Physicians India 2015 Aug;63(8):28-36. PMID: 27604433

Diagnosis

Dutta P, Gupta P, Singh P, Modi M, Srinivasan A, Mukherjee S, Rai A, Saini H, Sukhija JS, Bansal R, Bhansali A, Mukherjee KK
J Assoc Physicians India 2015 Aug;63(8):28-36. PMID: 27604433
Elster AD
Semin Ultrasound CT MR 1993 Jun;14(3):182-94. doi: 10.1016/s0887-2171(05)80079-4. PMID: 8357621

Prognosis

Dutta P, Gupta P, Singh P, Modi M, Srinivasan A, Mukherjee S, Rai A, Saini H, Sukhija JS, Bansal R, Bhansali A, Mukherjee KK
J Assoc Physicians India 2015 Aug;63(8):28-36. PMID: 27604433

Clinical prediction guides

Dutta P, Gupta P, Singh P, Modi M, Srinivasan A, Mukherjee S, Rai A, Saini H, Sukhija JS, Bansal R, Bhansali A, Mukherjee KK
J Assoc Physicians India 2015 Aug;63(8):28-36. PMID: 27604433

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