Growth Hormone (GH-1) Gene Deletions in Children with Isolated Growth Hormone Deficiency (IGHD)

Objective To detect growth hormone GH-1 gene deletions (6.7 kb, 7.6 kb, 7 kb) in familial/nonfamilial isolated growth hormone deficiency (IGHD) and note their clinical and investigative profile. Methods Thirty (M16,F14) prepubertal IGHD patients aged 0.25 to 14 y, from 25 families were screened. Dur...

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Bibliographic Details
Published in:Indian journal of pediatrics 2012-07, Vol.79 (7), p.875-883
Main Authors: Desai, Meena P., Mithbawkar, Shilpa M., Upadhye, Pradnya S., Shalia, Kavita K.
Format: Article
Language:English
Subjects:
Adolescent
Base Sequence
Biological and medical sciences
Child
Child, Preschool
Dwarfism, Pituitary - diagnosis
Dwarfism, Pituitary - genetics
Electrophoresis, Agar Gel
Female
General aspects
Gynecology
Human Growth Hormone - genetics
Humans
India
Infant
Male
Medical sciences
Medicine
Medicine & Public Health
Original Article
Pediatrics
Phenotype
Polymerase Chain Reaction
Prospective Studies
Retrospective Studies
Sequence Deletion
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Summary:Objective To detect growth hormone GH-1 gene deletions (6.7 kb, 7.6 kb, 7 kb) in familial/nonfamilial isolated growth hormone deficiency (IGHD) and note their clinical and investigative profile. Methods Thirty (M16,F14) prepubertal IGHD patients aged 0.25 to 14 y, from 25 families were screened. Duration of growth failure, relevant history, clinical phenotype, and height SDS were recorded. Peak GH response to Clonidine (0.15 mg/m 2 ), IGF-1, IGFBP-3 and pituitary/target gland hormones were studied. Genomic DNA of patients and family was analysed by PCR and DNA fragments were visualized on agarose gel electrophoresis. Results This series was divided into deletion +ve, Group I ( n  = 12,40%) inclusive of six familial/six nonfamilial patients, and deletion −ve Group II ( n  = 18,60%), 5 familial/13 nonfamilial cases; in total 11/30 were familial. Onset of growth failure was earlier in Group I ( p  
ISSN:0019-5456
0973-7693
DOI:10.1007/s12098-011-0588-5