The molecular basis of hypoprolactinaemia.

IF 6.9 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Bryan Padraig Finn, Mehul T Dattani
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引用次数: 0

Abstract

Hypoprolactinaemia is an endocrinopathy which is typically encountered as part of a combined pituitary hormone deficiency picture. The vast majority of genetic causes identified to date have been in the context of congenital hypopituitarism with multiple co-existent endocrinopathies. This is primarily with its closest hormonal relation, namely growth hormone. Acquired hypoprolactinaemia is generally rare in paediatric patients, and usually occurs together with other hormonal deficiencies. Congenital hypopituitarism occurs with an incidence of 1:4,000-10,000 cases and mutations in the following transcription factors account for the majority of documented genetic causes: PROP-1, POU1F1, LHX3/4 as well as documented case reports for a smaller subset of transcription factors and other molecules implicated in lactotroph development and prolactin secretion. Isolated prolactin deficiency has been described in a number of sporadic case reports in the literature, but no cases of mutations in the gene have been described to date. A range of genetic polymorphisms affecting multiple components of the prolactin signalling pathway have been identified in the literature, ranging from RNA spliceosome mutations (RNPC3) to loss of function mutations in IGSF-1. As paediatricians gain a greater understanding of the long-term ramifications of hypoprolactinaemia in terms of metabolic syndrome, type 2 diabetes mellitus and impaired fertility, the expectation is that clinicians will measure prolactin more frequently over time. Ultimately, we will encounter further reports of hypoprolactinaemia-related clinical presentations with further genetic mutations, in turn leading to a greater insight into the molecular basis of hypoprolactinaemia in terms of signalling pathways and downstream mediators. In the interim, the greatest untapped reserve of genetic causes remains within the phenotypic spectrum of congenital hypopituitarism.

低泌乳素血症的分子基础。
低泌乳素血症是一种内分泌病,通常是合并垂体激素缺乏症的一部分。迄今发现的绝大多数遗传病因都是先天性垂体功能减退症合并多种内分泌病。这主要与生长激素的关系最为密切。后天性低泌乳素血症在儿科患者中通常很少见,而且通常与其他激素缺乏症同时发生。先天性垂体功能减退症的发病率为 1:4,000-10,000,以下转录因子的突变占遗传原因的大多数:PROP-1、POU1F1 和 LHX3/4,以及有文献报道的涉及泌乳素分泌和泌乳素发育的转录因子和其他分子的小部分病例。文献中的一些散发性病例报告中描述了孤立的催乳素缺乏症,但迄今为止还没有描述过基因突变的病例。从 RNA 剪接体突变(RNPC3)到 IGSF-1 的功能缺失突变,文献中已经发现了一系列影响催乳素信号通路多个组成部分的基因多态性。随着儿科医生对低泌乳素血症在代谢综合征、2 型糖尿病和生育能力受损等方面的长期影响有了更深入的了解,临床医生有望更频繁地测量泌乳素。最终,我们会遇到更多与基因突变相关的低泌乳素血症临床表现的报告,进而从信号通路和下游介质的角度对低泌乳素血症的分子基础有更深入的了解。在此期间,先天性垂体功能减退症的表型谱中仍存在大量尚未开发的遗传原因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Reviews in Endocrine & Metabolic Disorders
Reviews in Endocrine & Metabolic Disorders 医学-内分泌学与代谢
CiteScore
14.70
自引率
1.20%
发文量
75
审稿时长
>12 weeks
期刊介绍: Reviews in Endocrine and Metabolic Disorders is an international journal dedicated to the field of endocrinology and metabolism. It aims to provide the latest advancements in this rapidly advancing field to students, clinicians, and researchers. Unlike other journals, each quarterly issue of this review journal focuses on a specific topic and features ten to twelve articles written by world leaders in the field. These articles provide brief overviews of the latest developments, offering insights into both the basic aspects of the disease and its clinical implications. This format allows individuals in all areas of the field, including students, academic clinicians, and practicing clinicians, to understand the disease process and apply their knowledge to their specific areas of interest. The journal also includes selected readings and other essential references to encourage further in-depth exploration of specific topics.
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