Mutations within The Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency

Conclusion: Phenotype of patients regarding hormonal deficiencies, pituitary morphology, presence of extra-pituitary findings, family history of CPHD and parental consanguinity are important to decide which pituitary transcription factor deficiency should be investigated. The frequency of the PROP1 mutations was 16% in our cohort. Mutation rate was higher in familial cases compared to sporadic cases (42,8% vs. 11,6%). PROP1 mutation frequencies vary in different populations and its prevalence is high in Turkish CPHD patients. PMID: 31948187 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research