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Case Reports in Endocrinology
Volume 2018, Article ID 2403430, 5 pages
Case Report

A Large PROP1 Gene Deletion in a Turkish Pedigree

1Department of Endocrinology and Metabolism, Antalya Education and Research Hospital, 07100 Antalya, Turkey
2Department of Pediatric Endocrinology, Antalya Education and Research Hospital, 07100 Antalya, Turkey
3Department of Medical Genetics, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Turkey

Correspondence should be addressed to Suheyla Gorar; moc.liamtoh@rarogs

Received 9 October 2017; Accepted 13 February 2018; Published 14 March 2018

Academic Editor: J. Paul Frindik

Copyright © 2018 Suheyla Gorar et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and corticotropes. We performed genetic analysis of PROP1 gene in a Turkish pedigree with three siblings who presented with short stature. Parents were first degree cousins. Index case, a boy, had somatotrope, gonadotrope, thyrotrope, and corticotrope deficiency. However, two elder sisters had somatotroph, gonadotroph, and thyrotroph deficiency and no corticotroph deficiency. On pituitary magnetic resonance, partial empty sella was detected with normal bright spot in all siblings. In genetic analysis, we found a gross deletion involving PROP1 coding region. In conclusion, we report three Turkish siblings with a gross deletion in PROP1 gene. Interestingly, although little boy with combined pituitary hormone deficiency has adrenocorticotropic hormone (ACTH) deficiency, his elder sisters with the same gross PROP1 deletion have no ACTH deficiency. This finding is in line with the fact that patients with PROP1 mutations may have different phenotype/genotype correlation.