Growth Hormone Deficiency
Conditions
Keywords
endocrine disorders, growth hormone deficiency, rare disease
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. II. Evaluate ultradian growth hormone (GH) secretory patterns in 4 affected dwarfs.
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.
Interventions
None listed
Sponsors
Eligibility
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