Reviews in Endocrine & Metabolic Disorders最新文献

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GHRH and the prostate. GHRH 和前列腺
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-11-07 DOI: 10.1007/s11154-024-09922-9
Laura Muñoz-Moreno, Irene D Román, Ana M Bajo
{"title":"GHRH and the prostate.","authors":"Laura Muñoz-Moreno, Irene D Román, Ana M Bajo","doi":"10.1007/s11154-024-09922-9","DOIUrl":"https://doi.org/10.1007/s11154-024-09922-9","url":null,"abstract":"<p><p>In the late 1960s and early 1970s, hypothalamic regulatory hormones were isolated, characterized and sequenced. Later, it was demonstrated hypothalamic and ectopic production of growth hormone-releasing hormone (GHRH) in normal and tumor tissues, of both humans and animals. Pituitary-type GHRH receptors (pGHRH-R) had been demonstrated to be expressed predominantly in the anterior pituitary gland but also found in other somatic cells, and significantly present in various human cancers; in addition, the expression of splice variants (SVs) of GHRH receptor (GHRH-R) has been found not only in the pituitary but in extrapituitary tissues, including human neoplasms. In relation to the prostate, besides the pGHRH-R, it has been detected the presence of truncated splice variants of GHRH-R (SV1-SV4) in normal human prostate and human prostate cancer (PCa) specimens; lastly, a novel SV of GHRH-R has been detected in human PCa. Signaling pathways activated by GHRH include AC/cAMP/PKA, Ras/Raf/ERK, PI3K/Akt/mTOR and JAK2/STAT3, which are involved in processes such as cell survival, proliferation and cytokine secretion. The neuropeptide GHRH can also transactivate the epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor (HER)-2. Thus, GHRH-Rs have become drug targets for several types of clinical conditions, including prostate-related conditions such as prostatitis, benign hyperplasia and cancer. Over the last fifty years, the development of GHRH-R receptor antagonists has been unstoppable, improving their potency, stability and affinity for the receptor. The last series of GHRH-R antagonists, AVR, exhibits superior anticancer and anti-inflammatory activities in both in vivo and in vitro assays.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Role of HOXA10 in pathologies of the endometrium. HOXA10 在子宫内膜病变中的作用。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-11-05 DOI: 10.1007/s11154-024-09923-8
Anuradha Mishra, Deepak Modi
{"title":"Role of HOXA10 in pathologies of the endometrium.","authors":"Anuradha Mishra, Deepak Modi","doi":"10.1007/s11154-024-09923-8","DOIUrl":"https://doi.org/10.1007/s11154-024-09923-8","url":null,"abstract":"<p><p>HOXA10 belongs to the homeobox gene family and is essential for uterine biogenesis, endometrial receptivity, embryo implantation, and stromal cell decidualization. Available evidence suggests that the expression of HOXA10 is dysregulated in different endometrial disorders like endometrial hyperplasia, endometrial cancer, adenomyosis, endometriosis, recurrent implantation failure, and unexplained infertility. The downregulation of HOXA10 occurs by genetic changes in the HOXA10 gene, methylation of the HOXA10 locus, or selected miRNAs. Endocrine disruptors and organic pollutants also cause the reduced expression of HOXA10 in these conditions. In vivo experiments in mouse models and in vitro studies in human cell lines demonstrate that downregulation of HOXA10 leads to endometrial epithelial cell proliferation, failure of stromal cell decidualization, altered expression of genes involved in cell cycle regulation, immunomodulation, and various signaling pathways. These disruptions are speculated to cause infertility associated with the disorders of the endometrium.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142584167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hypoprolactinemia, a neglected endocrine disorder. 低泌乳素血症,一种被忽视的内分泌失调症。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-11-04 DOI: 10.1007/s11154-024-09921-w
Fahrettin Kelestimur, Adriana G Ioachimescu
{"title":"Hypoprolactinemia, a neglected endocrine disorder.","authors":"Fahrettin Kelestimur, Adriana G Ioachimescu","doi":"10.1007/s11154-024-09921-w","DOIUrl":"https://doi.org/10.1007/s11154-024-09921-w","url":null,"abstract":"<p><p>This special issue of Reviews in Endocrine and Metabolic Disorders is dedicated to hypoprolactinemia. Prolactin is known for its actions on the mammary gland including development, preparation for postpartum lactation, as well as synthesis and maintenance of milk secretion. However, prolactin has many other physiological effects on reproduction, embryonic and fetal development, homeostasis, neuroprotection, behavior, and immunoregulation. In clinical practice, physiopathology and clinical consequences of increased prolactin secretion are generally well understood, and medical treatment to decrease prolactin levels is available and effective in most cases. Unlike prolactin excess, hypoprolactinemia has been a neglected endocrine disorder and nospecific replacement therapy is commercially available. Prolactin is the only anterior pituitary hormone not addressed by clinical hypopituitarism guidelines. In recent years, human studies have revealed that hypoprolactinemia is associated with metabolic, sexual and neuropsychologic alterations. Therefore, this special issue of Reviews in Endocrine and Metabolic Disorders is aimed to enhance our incomplete understanding of hypoprolactinemia. A total of 17 articles were authored by respected scientists and clinicians from a variety of disciplines including adult and pediatric endocrinology, pathology, gynecology, reproductive medicine, oncology, and neurosurgery.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prolactin: structure, receptors, and functions. 催乳素:结构、受体和功能。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-10-30 DOI: 10.1007/s11154-024-09915-8
Fanny Chasseloup, Valérie Bernard, Philippe Chanson
{"title":"Prolactin: structure, receptors, and functions.","authors":"Fanny Chasseloup, Valérie Bernard, Philippe Chanson","doi":"10.1007/s11154-024-09915-8","DOIUrl":"https://doi.org/10.1007/s11154-024-09915-8","url":null,"abstract":"<p><p>Prolactin (PRL) is a 23-kDa protein synthesized and secreted by lactotroph cells of the anterior pituitary gland but also by other peripheral tissues. PRL binds directly to a unique transmembrane receptor (PRLR), and the JAK2/signal transducer and activator of transcription 5 (Stat5) pathway is considered the major downstream pathway for PRLR signaling. To a lesser extent, PRL may be cleaved into the shorter 16-kDa PRL, also called vasoinhibin, whose signaling is not fully known. According to rodent models of PRL signaling inactivation and the identification of human genetic alterations in PRL signaling, a growing number of biological processes are partly mediated by PRL or its downstream effectors. In this review, we focused on PRL structure and signaling and its canonical function in reproduction. In addition to regulating reproductive functions, PRL also plays a role in behavior, notably in initiating nurturing and maternal behavior. We also included recent insights into PRL function in several fields, including migraines, metabolic homeostasis, inflammatory and autoimmune disease, and cancer. Despite the complexity of understanding the many functions of PRL, new research in this field offers interesting perspectives on physiological and pathophysiological processes.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142547125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
GHRH and its analogues in central nervous system diseases. 中枢神经系统疾病中的 GHRH 及其类似物。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-10-29 DOI: 10.1007/s11154-024-09920-x
Yueyang Liu, Rong Fu, Hui Jia, Kefan Yang, Fu Ren, Ming-Sheng Zhou
{"title":"GHRH and its analogues in central nervous system diseases.","authors":"Yueyang Liu, Rong Fu, Hui Jia, Kefan Yang, Fu Ren, Ming-Sheng Zhou","doi":"10.1007/s11154-024-09920-x","DOIUrl":"https://doi.org/10.1007/s11154-024-09920-x","url":null,"abstract":"<p><p>Growth hormone-releasing hormone (GHRH) is primarily produced by the hypothalamus and stimulates the release of growth hormone (GH) in the anterior pituitary gland, which subsequently regulates the production of hepatic insulin-like growth factor-1 (IGF-1). GH and IGF-1 have potent effects on promoting cell proliferation, inhibiting cell apoptosis, as well as regulating cell metabolism. In central nerve system (CNS), GHRH/GH/IGF-1 promote brain development and growth, stimulate neuronal proliferation, and regulate neurotransmitter release, thereby participating in the regulation of various CNS physiological activities. In addition to hypothalamus-pituitary gland, GHRH and GHRH receptor (GHRH-R) are also expressed in other brain cells or tissues, such as endogenous neural stem cells (NSCs) and tumor cells. Alternations in GHRH/GH/IGF-1 axis are associated with various CNS diseases, for example, Alzheimer's disease, amyotrophic lateral sclerosis and emotional disorders manifest GHRH, GH or IGF-1 deficiency, and GH or IGF-1 supplementation exerts beneficial therapeutic effects on these diseases. CNS tumors, such as glioma, can express GHRH and GHRH-R, and activating this signaling pathway promotes tumor cell growth. The synthesized GHRH antagonists have shown to inhibit glioma cell growth and may hold promising as an adjuvant therapy for treating glioma. In addition, we have shown that GHRH agonist MR-409 can improve neurological sequelae after ischemic stroke by activating extrapituitary GHRH-R signaling and promoting endogenous NSCs-derived neuronal regeneration. This article reviews the involvement of GHRH/GH/IGF-1 in CNS diseases, and potential roles of GHRH agonists and antagonists in treating CNS diseases.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142547124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Meal replacements on obesity and leptin: a systematic review and meta-analysis. 代餐对肥胖和瘦素的影响:系统回顾和荟萃分析。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-10-21 DOI: 10.1007/s11154-024-09918-5
Somaye Fatahi, Danial Fotros, Mohammad Hassan Sohouli, Koroush Vahidshahi, Pejman Rohani, Nathalia Sernizon Guimarães
{"title":"Meal replacements on obesity and leptin: a systematic review and meta-analysis.","authors":"Somaye Fatahi, Danial Fotros, Mohammad Hassan Sohouli, Koroush Vahidshahi, Pejman Rohani, Nathalia Sernizon Guimarães","doi":"10.1007/s11154-024-09918-5","DOIUrl":"https://doi.org/10.1007/s11154-024-09918-5","url":null,"abstract":"<p><p>The global prevalence of obesity and overweight is a significant concern in the field of public health. Numerous interventional studies have been conducted to assess the possible meal replacements (MRs) effect on anthropometric indicators and indices and laboratory test that reflect obesity. However, there are no comprehensive results in this field. The study aim was to understand the possible effects of MRs on body weight, body mass index (BMI), fat mass, waist circumferences (WC), and leptin levels. A systematic search was conducted in five electronic databases in order to find randomized clinical trials (RCTs) that examined the possible MRs effect on obesity. Analyses were performed in R software, version 4.2.1. The random-effects model analysis was used to provide pooled mean difference and 95% confidence intervals (95% CI). Seventy studies were included. Body weight (WMD: -3.35 kg, 95% CI: -4.28 to -2.42), BMI (WMD: -1.12 kg/m2, 95% CI: -1.51 to -0.72), fat mass (WMD: -2.77 kg, 95% CI: -3.59 to -1.6), WC (WMD: -2.82 cm, 95% CI: -3.51 to -2.12) were significantly reduced after MRs compared to control. No significant effect was observed on leptin (WMD: -3.37 ng/ml, 95% CI: -8.23 to 1.49). Subgroup analyses indicated that impact of total MRs on anthropometric factors was greater in comparison to partial MRs. Considering other lifestyle factors, MRs can lead to anthropometric indicators and indices reduction.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
What do we know about abnormally low prolactin levels in polycystic ovary syndrome? A narrative review. 我们对多囊卵巢综合征催乳素水平异常低了解多少?叙述性综述。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-10-19 DOI: 10.1007/s11154-024-09912-x
Nicoletta Cera, Joana Pinto, Duarte Pignatelli
{"title":"What do we know about abnormally low prolactin levels in polycystic ovary syndrome? A narrative review.","authors":"Nicoletta Cera, Joana Pinto, Duarte Pignatelli","doi":"10.1007/s11154-024-09912-x","DOIUrl":"https://doi.org/10.1007/s11154-024-09912-x","url":null,"abstract":"<p><p>Hyper and hypoprolactinemia seem to be related to the occurrence of metabolic alterations in PCOS patients. In contrast, between significantly elevated and significantly low, prolactin levels seem to be protective against metabolic consequences. In the present review, we found 4 studies investigating hypoprolactinemia in patients with PCOS. We also identified 6 additional studies that reported low levels of PRL in PCOS patients. Although its prevalence is not considered high (13.2-13.9%), its contribution is certainly significant to the metabolic alterations observed in PCOS (insulin resistance, obesity, diabetes mellitus, and fatty liver disease). Dopamine inhibits the secretion of prolactin and GnRH. If dopamine levels are low or the dopamine receptor is less expressed or mutated, the levels of prolactin and GnRH increase, and consequently, LH also increases. On the other hand, hyperprolactinemia, in prolactinomas-typical levels, acting through kisspeptin inhibition causes GnRH suppression and hypogonadotropic hypogonadism. In situations of hypoprolactinemia due to excessive dopamine agonist treatment, dosage reduction is important to minimize the decrease in prolactin levels. Nevertheless, there is a lack of prospective studies confirming these hypotheses, as well as randomized clinical trials with appropriate drugs targeting both hyperprolactin and hypoprolactin in patients with PCOS.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Growth hormone-releasing hormone and cancer. 生长激素释放激素与癌症
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-10-18 DOI: 10.1007/s11154-024-09919-4
Iacopo Gesmundo, Francesca Pedrolli, Renzhi Cai, Wei Sha, Andrew V Schally, Riccarda Granata
{"title":"Growth hormone-releasing hormone and cancer.","authors":"Iacopo Gesmundo, Francesca Pedrolli, Renzhi Cai, Wei Sha, Andrew V Schally, Riccarda Granata","doi":"10.1007/s11154-024-09919-4","DOIUrl":"https://doi.org/10.1007/s11154-024-09919-4","url":null,"abstract":"<p><p>The hypothalamic hormone growth hormone-releasing hormone (GHRH), in addition to promoting the synthesis and release of growth hormone (GH), stimulates the proliferation of human normal and malignant cells by binding to GHRH-receptor (GHRH-R) and its main splice variant, SV1. Both GHRH and GHRH-Rs are expressed in various cancers, forming a stimulatory pathway for cancer cell growth; additionally, SV1 possesses ligand independent proliferative effects. Therefore, targeting GHRH-Rs pharmacologically has been proposed for the treatment of cancer. Various classes of synthetic GHRH antagonists have been developed, endowed with strong anticancer activity in vitro and in vivo, in addition to displaying anti-inflammatory, antioxidant and immune-modulatory functions. GHRH antagonists exert indirect effects by blocking the pituitary GH/hepatic insulin-like growth factor I (IGF-I) axis, or directly inhibiting the binding of GHRH on tumor GHRH-Rs. Additionally, GHRH antagonists block the mitogenic functions of SV1 in tumor cells. This review illustrates the main findings on the antitumor effects of GHRH antagonists in experimental human cancers, along with their underlying mechanisms. The development of GHRH antagonists, with reduced toxicity and high stability, could lead to novel therapeutic agents for the treatment of cancer and inflammatory diseases.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel approach for the treatment of AML, through GHRH antagonism: MIA-602. 通过 GHRH 拮抗剂治疗急性髓细胞白血病的新方法:MIA-602。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-10-17 DOI: 10.1007/s11154-024-09917-6
Joel Costoya, Simonetta I Gaumond, Ravinder S Chale, Andrew V Schally, Joaquin J Jimenez
{"title":"A novel approach for the treatment of AML, through GHRH antagonism: MIA-602.","authors":"Joel Costoya, Simonetta I Gaumond, Ravinder S Chale, Andrew V Schally, Joaquin J Jimenez","doi":"10.1007/s11154-024-09917-6","DOIUrl":"https://doi.org/10.1007/s11154-024-09917-6","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) is the most aggressive and prevalent form of leukemia in adults. The gold-standard intervention revolves around the use of chemotherapy, and in some cases hematopoietic stem cell transplantation. Drug resistance is a frequent complication resulting from treatment, as it stands there are limited clinical measures available for refractory AML besides palliative care. The goal of this review is to renew interest in a novel targeted hormone therapy in the treatment of AML utilizing growth hormone-releasing hormone (GHRH) antagonism, given it may provide a potential solution for current barriers to achieving complete remission post-therapy. Recapitulating pre-clinical evidence, GHRH antagonists (GHRH-Ant) have significant anti-cancer activity across experimental human AML cell lines in vitro and in vivo and demonstrate significant inhibition of cancer in drug resistant analogs of leukemic cell lines as well. GHRH-Ant act in manners that are orthogonal to anthracyclines and when administered in combination synergize to produce a more potent anti-neoplastic effect. Considering the adversities associated with standard AML therapies and the developing issue of drug resistance, MIA-602 represents a novel approach worth further investigation.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The molecular basis of hypoprolactinaemia. 低泌乳素血症的分子基础。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-10-17 DOI: 10.1007/s11154-024-09906-9
Bryan Padraig Finn, Mehul T Dattani
{"title":"The molecular basis of hypoprolactinaemia.","authors":"Bryan Padraig Finn, Mehul T Dattani","doi":"10.1007/s11154-024-09906-9","DOIUrl":"https://doi.org/10.1007/s11154-024-09906-9","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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