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| ID | Type | Description | Link |
|---|---|---|---|
| NU-571 |
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| Name | Class |
|---|---|
| Northwestern University | OTHER |
OBJECTIVES: I. Assess pituitary size and anatomic configuration by magnetic resonance imaging (MRI) in 4 affected dwarfs in the province of Sindh, Pakistan.
II. Evaluate ultradian growth hormone (GH) secretory patterns in 4 affected dwarfs.
PROTOCOL OUTLINE: Pituitary size and anatomy and growth hormone response are evaluated.
All patients undergo MRI of the pituitary fossa on day 1. On day 2, homozygous patients receive a slow infusion of normal saline with blood sampling every 10 minutes.
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| Name | Affiliation | Role |
|---|---|---|
| Gerhard Baumann | Northwestern University | Study Chair |
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| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 9401536 | Background | Baumann G, Maheshwari H. The Dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. Acta Paediatr Suppl. 1997 Nov;423:33-8. doi: 10.1111/j.1651-2227.1997.tb18366.x. | |
| 9814493 | Background | Maheshwari HG, Silverman BL, Dupuis J, Baumann G. Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh. J Clin Endocrinol Metab. 1998 Nov;83(11):4065-74. doi: 10.1210/jcem.83.11.5226. |
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| ID | Term |
|---|---|
| D004393 | Dwarfism, Pituitary |
| D004700 | Endocrine System Diseases |
| D035583 | Rare Diseases |
| ID | Term |
|---|---|
| D004392 | Dwarfism |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
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| D001849 |
| Bone Diseases, Endocrine |
| D007018 | Hypopituitarism |
| D010900 | Pituitary Diseases |
| D007027 | Hypothalamic Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |