SCREENING OF PROP-1, LHX2 AND POU1F1 MUTATIONS IN PATIENTS WITH ECTOPIC POSTERIOR PITUITARY GLAND

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Ectopic posterior pituitary gland (EPP) is a congenital condition characterized by abnormal pituitary stalk development and anterior pituitary hypoplasia.
• The underlying genetic causes of EPP are not well understood, necessitating further investigation into potential genetic factors.

Purpose of the Study:

• To investigate the association between mutations in the PROP-1, LHX2, and POU1F1 genes and the risk and clinical characteristics of EPP.
• To elucidate the genetic mechanisms contributing to the development of EPP.

Main Methods:

• Sequencing analysis of the PROP-1, LHX2, and POU1F1 genes was performed on 27 patients diagnosed with EPP.
• Patients were recruited from the Endocrinology Outpatient Clinic at 'Dr. Behcet Uz' Children's Hospital.

Main Results:

• Multiple pituitary hormone deficiencies were prevalent, including growth hormone (81.5%), thyrotropin (85.2%), and corticotropin (63%).
• Hyperprolactinemia was observed in 48.1% of patients, and a significant proportion had a history of birth dystocia (51%) or breech presentation (42.1%).
• Genetic analysis identified a homozygous PROP1 mutation (p.S109*) in one patient and PROP1 polymorphisms in thirteen patients, suggesting a role for PROP1 gene abnormalities.

Conclusions:

• The findings suggest that abnormalities within the PROP1 gene play a significant role in the genetic etiology of ectopic posterior pituitary gland (EPP).
• Further research into PROP1 gene mutations is warranted to fully understand their contribution to EPP pathogenesis.