Rare endocrine diseases: from diagnosis to long-term follow-up

Abstract

Background: Congenital multiple pituitary hormone deficiency (MPHD) is one of rare life-long lasting endocrine disease that may result from defects of transcription factors that govern early pituitary development. PROP1 gene mutation is the most prevalent cause of MPHD. Objective: to establish the prevalence of PROP1 gene defects in an ethnically homogeneous population-based cohort of patients with MPHD in Lithuania and to analyze the phenotype of affected individuals. Design and methods: 67 MPHD patients were tested for PROP1 defects. Hormonal investigations, pituitary imaging and GH therapy were provided in a single center of Endocrinology in Lithuanian University of Health Sciences. Results: 47 subjects (70.1%) carried a biallelic PROP1 gene mutation. 46 of these, were homozygotes 296delGA. Positive finding rate among MPHD and population prevalence of PROP1 defects in Lithuania (15.8 per million) is the highest ever reported. Deficiences of GH, TSH, FSH/LH and ACTH were diagnosed in 44/44, 44/44, 22/44 and 19/44 sunjects at median age 5.5; 5.6; 15.0 and 13.1 years, respectively. [...].