ESPE Abstracts (2016) 86 P-P1-737

Screening of PROP-1, LHX2 and POU1F1 Mutations in Patients with Ectopic Posterior Pituitary Gland

Hüseyin Anıl Korkmaza, Utku Karaarslanb, Cenk Eraslanc, Dinçer Atilad, Filiz Hazana, Vatan Barısıke, Emine Sevcan Ataf, Ozdal Etlikg, Melek Yıldıza & Behzat Ozkana


aDr. Behcet Uz Children Disease and Surgery Training and Research Hospital, Izmir, Turkey; bDokuz Eylul University, Izmir, Turkey; cEge University Medical School, Izmir, Turkey; dBahçesaray State Hospital, Van, Turkey; eMetropol Medicine Center, Izmir, Turkey; fUsak State Hospital, Usak, Turkey; gBURC Molecular Diagnostic Laboratories, Istanbul, Turkey


Background: Ectopic posterior pituitary gland (EPP) is characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain.

Objective and hypotheses: The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP.

Method: In the Endocrinology Outpatient Clinic of Dr. Behcet Uz Children’s Hospital, 27 patients with EPP were submitted to sequencing analyses of the PROP-1, LHX2, and POU1F1 genes.

Results: Growth hormone, thyrotropin, corticotropin, gonadotropin, and vasopressin deficiency were observed in 22 (81.5%), 23 (85.2%), 17 (63%), 14 (51.9%), and two (7.4%) patients. Thirteen patients (48.1%) presented with hyperprolactinemia. Fourteen patients (51%) had a history of birth dystocia, and 12 cases (42.1%) had a history of breech presentation. Central nervous system abnormalities in EPP patients included five cases with corpus callosum agenesis, one case with schizencephaly, and one case with Chiari type 1 malformation. We identified a homozygous p.S109* mutation in exon 2 in one male patient with EPP and two different PROP1 gene polymorphisms (A142T or c.109+3 G>A polymorphism) in thirteen patients.

Conclusion: Our results suggest that PROP1 gene abnormalities might explain the genetic mechanisms involved in the development of EPP.

Keywords: PROP 1 mutation, ectopic posterior pituitary gland, ectopic neurohypophysis, multiple pituitary hormone deficiency