Abstract
Objectives:
Ectopic posterior pituitary gland (EPP) or pituitary stalk transection syndrome is characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain. The aim of this study is to determine whether three mutations - PROP-1, LHX2, and POU1F1 - are associated with the risk for and the characteristics of EPP.
Methods:
In the Endocrinology Outpatient Clinic of Dr. Behçet Uz Children’s Hospital, 27 patients with EPP were submitted to sequencing analysis of the PROP-1, LHX2, and POU1F1 genes.
Results:
Growth hormone, thyrotropin, corticotropin, gonadotropin, and vasopressin deficiency were observed respectively in 22 (81.5%), 23 (85.2%), 17 (63%), 14 (51.9%), and 2 (7.4%) patients. 13 patients (48.1%) presented with hyperprolactinaemia. 14 patients (51%) had a history of birth dystocia, and 12 cases (42.1%) had a history of breech presentation. Central nervous system abnormalities in patients with EPP included five cases with corpus callosum agenesis, one case with schizencephaly, and one case with Chiari type 1 malformation. We identified a homozygous S109X mutation in exon 2 in one male patient with EPP and two different PROP-1 gene polymorphisms (A142T or c.109+3 G>A polymorphism) in 9 patients.
Conclusions:
Our results suggest that PROP-1 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
