ArticleActa endocrinologica (Bucharest, Romania : 2005)
SCREENING OF PROP-1, LHX2 AND POU1F1 MUTATIONS IN PATIENTS WITH ECTOPIC POSTERIOR PITUITARY GLAND.
Article in Acta endocrinologica (Bucharest, Romania : 2005). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 0 citations in OpenAlex.
- Development of the neurohypophysis: A major neuroendocrine interface.Journal of neuroendocrinology · 2026Review
- PITUITARY STALK INTERRUPTION SYNDROME CAUSED BY NOVEL COMPOUND HETEROZYGOUS MUTATIONS IN THEActa endocrinologica (Bucharest, Romania : 2005)Article
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10 authors at 1 institution in 1 country.
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Abstract
objectiveEctopic posterior pituitary gland (EPP) is usually 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 mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP.
methodsIn 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.
resultsGrowth 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 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.
conclusionsOur results suggest that PROP1 gene abnormalities might explain the genetic mechanisms involved in the development of EPP.
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