Study of Pituitary Size and Function in Familial Dwarfism of Sindh

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

4 participants

Study Classification

OBSERVATIONAL

Study Start Date

1995-09-30

Study Completion Date

2000-02-29

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Growth Hormone Deficiency

Eligibility Criteria

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Inclusion Criteria

* 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

Minimum Eligible Age

10 Years

Maximum Eligible Age

60 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Principal Investigators

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Gerhard Baumann

Role: STUDY_CHAIR

Northwestern University

References

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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.

Reference Type BACKGROUND

PMID: 9401536 (View on PubMed)

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.

Reference Type BACKGROUND

PMID: 9814493 (View on PubMed)

Other Identifiers

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NU-571

Identifier Type: -

Identifier Source: secondary_id

199/11940