Genetic Analysis of Adult Slovenian Patients with Combined Pituitary Hormone Deficiency

Overview

Journal Endocrine

Specialty Endocrinology

Date 2019 May 17

PMID 31093944

Citations 1

Authors

Katica Bajuk Studen

Magdalena Avbelj Stefanija

Alexandru Saveanu

Anne Barlier

Thierry Brue

Marija Pfeifer

Affiliations

Soon will be listed here.

Abstract

Purpose: Among genetic causes of combined pituitary hormone deficiency (CPHD), mutations of genes coding for transcription factors involved in pituitary development have been implicated. Congenital CPHD is a rare disease; therefore, it is important to expand the knowledge about incidence and regional distribution of specific mutations. The aim of this paper is to report results of genetic analyses of adult Slovenian patients with CPHD.

Methods: Twenty-three adult Slovenian patients with early childhood onset CPHD were included in the study. Blood samples were collected through the GENHYPOPIT network to assess possible mutations of six genes (PROP1/HESX1/LHX4/LHX3/POU1F1) involved in the pituitary development following an established algorithm.

Results: In seven out of 23 patients (30%) a specific mutation in genes encoding pituitary transcription factors was discovered. In five patients, two different mutations of the PROP1 gene (c.150delA and c.301-302delAG) were identified. One patient was heterozygous for a missense variant in the LHX4 gene. Additionally, one patient was positive for a mutation in the gene coding for prokineticin receptor-2.

Conclusions: Our study confirms that the two most common mutations of the PROP1 gene globally are also the most frequent mutations in the cohort of adult Slovenian patients with CHPD. Other mutations of pituitary transcription factor genes are extremely rare.

Citing Articles

Mutations Within the Transcription Factor in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency.

Bulut F, Dilek S, Kotan D, Mengen E, Gurbuz F, Yuksel B J Clin Res Pediatr Endocrinol. 2020; 12(3):261-268.

PMID: 31948187 PMC: 7499144. DOI: 10.4274/jcrpe.galenos.2020.2019.0191.

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