Study of Pituitary Size and Function in Familial Dwarfism of Sindh

• Sponsor: National Center for Research Resources (NCRR) (NIH)
• Overall Status: Completed
• CT.gov ID: NCT00004365
• Collaborator: Northwestern University (Other)
• Enrollment: 4
• Duration (Months): 53

Study Details

Study Description

Brief Summary

OBJECTIVES: I. Assess pituitary size and anatomic configuration by magnetic resonance imaging (MRI) in 4 affected dwarfs in the province of Sindh, Pakistan.

1. Evaluate ultradian growth hormone (GH) secretory patterns in 4 affected dwarfs.

Condition or Disease	Intervention/Treatment	Phase
Growth Hormone Deficiency

Detailed Description

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.

Study Design

• Study Type: Observational
• Study Start Date: Sep 1, 1995
• Study Completion Date: Feb 1, 2000

Outcome Measures

Primary Outcome Measures

Eligibility Criteria

Criteria

• Ages Eligible for Study: 10 Years to 60 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

• Familial Dwarfism of Sindh

• Severe short stature but proportionate without dysmorphic features

• Normal body size and weight at birth

• Bone age is severely delayed

• Puberty is somewhat delayed (age 15-16)

• Fertility present in at least 3 dwarfs

Contacts and Locations

Locations

No locations specified.

Sponsors and Collaborators

• National Center for Research Resources (NCRR)
• Northwestern University

Investigators

• Study Chair: Gerhard Baumann, Northwestern University

Study Documents (Full-Text)

None provided.

More Information

Publications

• 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.
• 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.

• ClinicalTrials.gov Identifier: NCT00004365
• Other Study ID Numbers: 199/11940; NU-571
• First Posted: Oct 19, 1999
• Last Update Posted: Jun 24, 2005
• Last Verified: Dec 1, 2003

• Keywords provided by , ,: endocrine disorders; growth hormone deficiency; rare disease

Study Results

No Results Posted as of Jun 24, 2005