Severe dyslipidemia as a result of hypopituitarism decompensation in a girl with a PROP1 gene defect: a case report

Multiple pituitary hormone deficiency is characterized by insufficient production of two or more pituitary hormones and can develop as a result of birth trauma, asphyxia, and defects in genes that control pituitary cell differentiation during embryonic development. Variant substitutions in the PROP1 gene are the most common genetic cause of multiple pituitary hormone deficiency. The gene, mapped independently in 1998 by two groups of scientists, is located on the long arm of chromosome 5 (5q35) and consists of three exons. Homeodomain transcription factor consisting of 226 amino acids is the gene product that plays a decisive role in the differentiation of the adenohypophysis with the formation of five cell types (somatotrophs, lactotrophs, thyrotrophs, gonadotrophs, corticotrophs). Variant substitutions in PROP1 are autosomal recessively inherited, the phenotype of the disease is heterogeneous. The onset of tropic deficiencies in most cases is described in the following order: secondary hypothyroidism, somatotropic hormone (STH) deficiency, secondary hypogonadism, and in some cases – secondary hypocorticism. The role of pituitary hormones in the functioning of the body is multifaceted. Growth hormone and thyroid hormones (THs) produced under the influence of thyroid-stimulating hormone have, among other things, a great influence on lipid metabolism. Excess of STH and THs leads to a decrease, and their deficiency – to an increase in all blood lipid fractions, which increases the risk of developing cardiovascular complications, dyslipidemia in this case is secondary. This article describes a clinical case of severe hyperlipidemia that developed in a non-compliant patient with a compound heterozygous variant in the PROP1 gene.