Compound Heterozygous Deletion of thePROP-1 Gene in Children with Combined Pituitary Hormone Deficiency

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Population

14 children with combined pituitary hormone deficiency (CPHD) from Russian families

Design

Case_series

Authors

Discussion

Supports PROP1 screening in Russian CPHD families; extends genetic data but leaves broader applicability open.

Population

14 children with combined pituitary hormone deficiency (CPHD) from Russian families

Outcome

Detection of PROP1 gene mutations (149delGA and 296delGA)

Identifies compound heterozygosity for two common PROP1 deletions as a cause of combined pituitary hormone deficiency in Russian children.

Fofanova et al. (1998) studied this question.

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