Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2007) 14 P585

ECE2007 Poster Presentations (1) (659 abstracts)

Genetic analysis of PROP1 gene in patients with childhood-onset combined pituitary hormone deficiency (CPHD)

Zita Halász 1 , Judit Toke 2 , Attila Patócs 2 , Rita Bertalan 2 , Zsófia Tömböl 2 , Ágnes Sallai 1 , Éva Hosszú 1 , Ágota Muzsnai 3 , László Kovács 4 , János Sólyom 1 , György Fekete 1 & Károly Rácz 2

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1Semmelweis University, 2nd Department of Pediatrics, Budapest, Hungary; 2Semmelweis University, 2nd Department of Medicine, Budapest, Hungary; 3Buda Children’s Hospital, Department of Endocrinology, Budapest, Hungary; 4National Medical Center, Department of Medicine, Division of Endocrinology, Budapest, Hungary.


Introduction: Combined pituitary hormone deficiency (CPHD) may be associated with mutations of genes coding for pituitary transcription factors, of which the PROP1 and Pit1, gene mutations have been most extensively studied. However, there are controversial data about the prevalence of these gene mutations in non-acquired childhood-onset CPHD patients.

Objectives: To examine the prevalence and spectrum of PROP1 and Pit1 gene mutations in CPHD patients a multicenter study was performed.

Patients and methods: Patients were selected on the basis of evidence of childhood-onset growth hormone deficiency combined with at least one other pituitary hormone defect. Twenty-nine sporadic and 6 familial cases (2 affected siblings from 3 families) were examined. Genomic DNA was extracted from peripheral blood leukocytes. Mutational analysis of the coding exons of the PROP1 gene was carried out in all patients. In 14 patients in whom disease-causing mutation of the PROP1 gene was absent, mutational analysis of exon 6 of the Pit1 gene was also performed.

Results: Genetic testing indicated disease-causing mutations of the PROP1 gene in 15 patients (homozygous mutations in exon 2: 296-302delGA in 4 patients, 150delA in 4 patients, C217T in one patient; homozygous mutations in exon3: F117I in one patient; and compound heterozygous mutations: 150delA/296-302delGA in 3 patients, 150delA/F117I in one patient, R99X/296-302delGA in one patient). No novel PROP1 gene mutation was detected. Mutational analysis of exon 6 of the Pit1 gene did not reveal disease-causing mutation.

Conclusion: With our selection criteria for genetic testing, disease-causing PROP1 gene mutations can be detected in a high proportion of childhood-onset, non-acquired CPHD in the Hungarian population.

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