Isolated hypoprolactinemia: The rarest of the rare?

Amna Khan, Giulia Di Dalmazi, Keivan Najafian Zahmatkeshan, Patrizio Caturegli
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Abstract

Isolated hypoprolactinemia (IHP) can be defined as the presence of consistently low serum levels of prolactin in the absence of other anterior pituitary hormone abnormalities. It is an extremely rare condition, and consequently incompletely understood and unrecognized. A recent study has reported the first cases of IHP caused by mutation in the PRL gene. There are also cases where the pathogenesis of IHP is likely secondary to an autoimmune response against the PRL-secreting cells. But most published cases are acquired and idiopathic. The best characterized function of PRL is to facilitate milk production in the puerperium. Analysis of the GTEX data repository, however, shows that PRL is the most abundantly expressed gene in the human pituitary, independently of gender and age, suggesting the presence of additional roles for PRL. Newer studies have indeed revealed a much larger spectrum of PRL functions and will likely uncover novel clinical phenotypes associated with severe PRL deficiency.

Abstract Image

孤立性低泌乳素血症:罕见中的罕见?
孤立性低泌乳素血症(IHP)是指在没有其他垂体前叶激素异常的情况下,血清中泌乳素水平持续偏低。这是一种极为罕见的病症,因此人们对它的了解和认识并不全面。最近的一项研究报告了首例由 PRL 基因突变引起的 IHP 病例。还有一些病例的发病机制可能是继发于针对 PRL 分泌细胞的自身免疫反应。但已发表的大多数病例都是获得性和特发性的。PRL最显著的功能是促进产褥期的乳汁分泌。然而,对 GTEX 数据库的分析表明,PRL 是人类垂体中表达最丰富的基因,与性别和年龄无关,这表明 PRL 还有其他作用。新的研究确实揭示了 PRL 功能的更大范围,并可能发现与严重 PRL 缺乏相关的新临床表型。
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