Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency

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BULUT F. D., Dilek S. O., KOTAN L. D., Mengen E., GÜRBÜZ F., YÜKSEL B.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.12, no.3, pp.261-268, 2020 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 12 Issue: 3
• Publication Date: 2020
• Doi Number: 10.4274/jcrpe.galenos.2020.2019.0191
• Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
• Page Numbers: pp.261-268
• Çukurova University Affiliated: Yes

Abstract

Objective: Mutations of the genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiation and maturation may lead to combined pituitary hormone deficiency (CPHD). PROP1 gene mutations are reported as the most frequent genetic aetiology of CHPD. The aim of this study was to describe the phenotypes of Turkish CPHD patients and define the frequency of PROP1 mutations.