keyword
https://read.qxmd.com/read/38650427/identification-of-a-novel-homozygous-nr5a1-variant-in-a-patient-with-a-46-xy-disorders-of-sex-development
#1
Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, Özge Köprülü, Beyhan Özkaya, Gülçin Arslan, Özlem Nalbantoğlu, Filiz Hazan, Behzat Özkan
OBJECTIVES: Nuclear receptor subfamily 5 group A member 1 ( NR5A1 ) is a transcription factor critical for the development of various organs. Pathogenic variants in NR5A1 are associated with a spectrum of disorders of sex development (DSD). CASE REPORT: A 15-month-old baby, raised as a girl, was referred for genital swelling and ambiguous genitalia. Born to healthy consanguineous parents, the baby had a phallus, perineal hypospadias, labial fusion, and a hypoplastic scrotum...
April 23, 2024: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/38649916/screening-of-premature-ovarian-insufficiency-associated-genes-in-hungarian-patients-with-next-generation-sequencing
#2
JOURNAL ARTICLE
Anett Illés, Henriett Pikó, Kristóf Árvai, Veronika Donka, Olívia Szepesi, János Kósa, Péter Lakatos, Artúr Beke
BACKGROUND: Premature ovarian insuffiency (POI) is one of the main cause behind infertility. The genetic analysis of POI should be part of the clinical diagnostics, as several genes have been implicated in the genetic background of it. The aim of our study was to analyse the genetic background of POI in a Hungarian cohort. METHODS: The age of onset was between 15 and 39 years. All patients had the 46,XX karyotype and they were prescreened for the most frequent POI associated FMR1 premutation...
April 22, 2024: BMC Medical Genomics
https://read.qxmd.com/read/38647103/intracerebroventricular-injection-of-kisspeptin-in-male-rats-activates-hypothalamo-pituitary-gonadal-axis-but-not-hypothalamo-pituitary-adrenal-axis
#3
JOURNAL ARTICLE
Zafer Sahin, Osman Aktas, Omer Faruk Kalkan, Gokhan Cuce, Ahmet Alver, Elif Sahin, Seniz Erdem, Neslihan Saglam, Zulfikare Isik Solak Gormus, Selim Kutlu
Kisspeptin is an important hormone involved in the stimulation of the hypothalamo-pituitary gonadal (HPG) axis. The HPG axis can be suppressed in certain conditions such as stress, which gives rise to the activation of the hypothalamo-pituitary-adrenal (HPA) axis. However, the physiological role of kisspeptin in the interaction of HPG and HPA axis is not fully understood yet. This study was conducted to investigate the possible effects of central kisspeptin injection on HPG axis as well as HPA axis activity...
April 22, 2024: Journal of Receptor and Signal Transduction Research
https://read.qxmd.com/read/38643847/irisin-as-an-emerging-target-in-the-regulation-of-reproductive-functions-in-health-and-disease
#4
REVIEW
Sree Vaishnavi Nalla, P Jayapradha, Lalruatmawii, K Nandheeswari, Pratik Naxine, G Vigneshwaran, Gaurav Rohilla, Itishree Dubey, Sapana Kushwaha
Germ cells are highly conserved in the gonads, nurtured to either develop into a gamete or self-renew into a stem cell reserve. Preserving the germ cell pool and protecting the reproductive organs is essential for maintaining an individual's fertility. Several factors, including a sedentary lifestyle, pollutants, hormonal disruption, drugs, and a disease condition, have been shown to impair normal reproductive function. Irisin has recently been identified as an adipomyokine involved in modulating physiological functions based on the body's metabolic status...
April 19, 2024: General and Comparative Endocrinology
https://read.qxmd.com/read/38641298/androgen-receptor-and-estrogen-receptor-variants-in-prostate-and-breast-cancers
#5
JOURNAL ARTICLE
José C Valentín López, Carol A Lange, Scott M Dehm
The androgen receptor (AR) and estrogen receptor alpha (ERα) are steroid receptor transcription factors with critical roles in the development and progression of prostate and breast cancers. Advances in the understanding of mechanisms underlying the ligand-dependent activation of these transcription factors have contributed to the development of small molecule inhibitors that block AR and ERα actions. These inhibitors include competitive antagonists and degraders that directly bind the ligand binding domains of these receptors, luteinizing hormone releasing hormone (LHRH) analogs that suppress gonadal synthesis of testosterone or estrogen, and drugs that block specific enzymes required for biosynthesis of testosterone or estrogen...
April 17, 2024: Journal of Steroid Biochemistry and Molecular Biology
https://read.qxmd.com/read/38640803/spatial-local-expressions-of-kisspeptin-in-the-uterus-and-uterine-tubes-and-its-relationship-to-the-reproductive-potential-in-goats
#6
JOURNAL ARTICLE
Haney Samir, Ahmed Elfadadny, Faten Radwan, Hossam R El-Sherbiny, Ayman A Swelum, Wael A Khalil, Gen Watanabe
Kisspeptins are neuropeptides encoded by the Kiss1 gene that was discovered as a metastasis suppressor gene in melanoma and breast cancer. Kisspeptin has pivotal functions for gonadotropin-releasing hormone secretion and plays integrated roles in the hypothalamic-pituitary-gonadal axis. However, little is known about the peripheral expression of kisspeptin in ruminants, especially in the female reproductive tract. Here, the objectives of the current study were to investigate the spatial localization of kisspeptin and mRNA expression of Kiss1 and its receptor (Kiss1r) in the fallopian tubes (FT) and uterus of goats at varied reproductive activity (cyclic versus true anoestrous goats, n=6, each)...
April 16, 2024: Domestic Animal Endocrinology
https://read.qxmd.com/read/38640403/gonadal-sex-and-chromosome-complement-influence-the-gut-microbiome-in-a-mouse-model-of-allergic-airway-inflammation
#7
JOURNAL ARTICLE
Carolyn Damilola Ekpruke, Rachel Alford, Erik Parker, Patricia Silveyra
Evidence abounds that gut microbiome components are associated with sex disparities in the immune system. However, it remains unclear whether the observed sex disparity in asthma incidence is associated with sex-dependent differences in immune-modulating gut microbiota, and/or its influence on allergic airway inflammatory processes. Using a mouse model of house dust mite (HDM)-induced allergic inflammation and the four core genotypes (FCG) model, we have previously reported sex differences in lung inflammatory phenotypes...
April 19, 2024: Physiological Genomics
https://read.qxmd.com/read/38637759/screening-of-temperature-responsive-signalling-molecules-during-sex-differentiation-in-asian-yellow-pond-turtle-mauremys-mutica
#8
JOURNAL ARTICLE
Xiaoli Liu, Haoyang Xu, Mingwei Peng, Chenyao Zhou, Chengqing Wei, Xiaoyou Hong, Wei Li, Chen Chen, Liqin Ji, Xinping Zhu
BACKGROUND: The Asian yellow pond turtle (Mauremys mutica) is an important commercial freshwater aquaculture species in China. This species is a highly sexually dimorphic species, with males growing at a faster rate than females and exhibits temperature-dependent sex determination (TSD), in which the incubation temperature during embryonic development determines the sexual fate. However, the mechanisms of the sex determination or sex differentiation in the Asian yellow pond turtle are remain a mystery...
April 18, 2024: BMC Genomics
https://read.qxmd.com/read/38635073/central-precocious-puberty-secondary-to-postoperative-craniopharyngioma-two-case-reports-and-a-literature-review
#9
JOURNAL ARTICLE
Ruyuan Zhu, Luyao Wang, Ling Zhao, Xiaojing Liu
BACKGROUND: Craniopharyngioma is a common intracranial tumour in children. Clinical manifestations are related to hypothalamic/pituitary deficiencies, visual impairment, and increased intracranial pressure. Defects in pituitary function cause shortages of growth hormone, gonadotropin, corticotropin, thyrotropin, and vasopressin, resulting in short stature, delayed puberty, feebleness, lethargy, polyuria, etc. However, manifestations involving precocious puberty (PP) are rare. CASE REPORT: In both patients, surgical resection was performed after the diagnosis of craniopharyngioma, and breast development occurred postoperatively at one month in one patient and at one year and three months in the other patient...
April 18, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/38628593/lipoprotein-alterations-in-endocrine-disorders-a-review-of-the-recent-developments-in-the-field
#10
REVIEW
Michal Olejarz, Ewelina Szczepanek-Parulska, Marek Ruchala
Dyslipidemia is one of the most common disorders worldwide, which, if left untreated, results in a multitude of complications. Thus proper diagnostics, which includes identifying of secondary causes of dyslipidemia is crucial. Endocrine disorders are an important cause of secondary dyslipidemia. This paper aims to review the publications on lipoprotein alterations in endocrine disorders from the past two years and provide an overview of the recent discoveries in this dynamically developing and large field. Significant changes in lipoprotein serum concentrations are present in most endocrinological diseases and can be modified with proper treatment...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38628583/characterization-of-a-novel-fast-growing-zebrafish-a-new-approach-to-growth-hormone-transgenesis
#11
JOURNAL ARTICLE
Noam Cohen-Rothschild, Naama Mizrahi, Berta Levavi-Sivan
The manipulation of the somatotropic axis, governing growth, has been a focus of numerous transgenic approaches aimed at developing fast-growing fish for research, medicine and aquaculture purposes. However, the excessively high growth hormone (GH) levels in these transgenic fish often result in deformities that impact both fish health and consumer acceptance. In an effort to mitigate these issues and synchronize exogenous GH expression with reproductive processes, we employed a novel transgenic construct driven by a tilapia luteinizing hormone (LH) promoter...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38628109/withania-somnifera-and-trigonella-foenum-graecum-as-ingredients-of-testosterone-boosting-supplements-possible-clinical-implications
#12
REVIEW
Monika Skrzypiec-Spring, Andrzej Pokrywka, Justyna Kuliczkowska-Płaksej, Adam Szeląg, Marek Bolanowski
This narrative review provides an overview of scientific studies on dietary supplements that may affect circulating testosterone (T) levels to explore which substances are scientifically proven to increase T concentration. We also review the scientific literature for their potential mechanisms and laboratory test changes triggered by their use. Based on the analysis of existing data on substances used to increase endogenous T levels, especially double-blind placebo-controlled randomized clinical trials, we selected 2 herbal extracts with the best documented positive effects on T levels, Withania somnifera root and root extracts/leaves and seed extracts of Trigonella foenum-graecum...
April 17, 2024: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://read.qxmd.com/read/38625478/effects-of-glycerol-monolaurate-on-estradiol-and-follicle-stimulating-hormones-offspring-quality-and-mrna-expression-of-reproductive-related-genes-of-zebrafish-danio-rerio-females
#13
JOURNAL ARTICLE
Boyu Li, Limin Ye, Cheng Zhang, Ruofan Liu, Chi Wang, Xiaotian Zhang, Hong Ji, Haibo Yu
This study aims to explore whether glycerol monolaurate (GML) can improve reproductive performance of female zebrafish (Danio rerio) and the survival percentage of their offspring. Three kinds of isonitrogenous and isolipid diets, including basal diet (control) and basal diet containing 0.75 g/kg GML (L_GML) and 1.5 g/kg GML (H_GML), were prepared for 4 weeks feeding trial. The results show that GML increased the GSI of female zebrafish. GML also enhanced reproductive performance of female zebrafish...
April 16, 2024: Fish Physiology and Biochemistry
https://read.qxmd.com/read/38616355/iron-overload-disorders-growth-and-gonadal-dysfunction-in-childhood-and-adolescence
#14
REVIEW
Marta Tenuta, Biagio Cangiano, Giulia Rastrelli, Francesco Carlomagno, Francesca Sciarra, Andrea Sansone, Andrea M Isidori, Daniele Gianfrilli, Csilla Krausz
Hemochromatosis (HC) is characterized by the progressive accumulation of iron in the body, resulting in organ damage. Endocrine complications are particularly common, especially when the condition manifests in childhood or adolescence, when HC can adversely affect linear growth or pubertal development, with significant repercussions on quality of life even into adulthood. Therefore, a timely and accurate diagnosis of these disorders is mandatory, but sometimes complex for hematologists without endocrinological support...
April 14, 2024: Pediatric Blood & Cancer
https://read.qxmd.com/read/38615950/reproductive-toxicity-of-ddt-in-the-japanese-medaka-fish-model-revisiting-the-impacts-of-ddt-on-female-reproductive-health
#15
JOURNAL ARTICLE
Jennifer M Cossaboon, Swee J Teh, Karilyn E Sant
The organochlorine pesticide dichlorodiphenyltrichloroethane (DDT) is an endocrine-disrupting compound (EDC) that has been banned by most countries for decades. However, it continues to be detected in nearly all humans and wildlife due to its biological and environmental persistence. The ovarian dysgenesis syndrome hypothesis speculates that exposure to EDCs during sensitive developmental windows such as early gonadal differentiation lead to reproductive disorders later in life. Yet, mechanisms by which DDT affects developing gonads remain unclear due to the inherent challenge of getting developmental exposure data from adults presenting with reproductive disease...
April 12, 2024: Chemosphere
https://read.qxmd.com/read/38614433/gonadal-hormone-deprivation-regulates-response-to-tibolone-in-neurodegenerative-pathways
#16
JOURNAL ARTICLE
Andrew J McGovern, Maria Angeles Arevalo, Sergio Ciordia, Luis Miguel Garcia-Segura, George E Barreto
Gonadal hormone deprivation (GHD) and decline such as menopause and bilateral oophorectomy are associated with an increased risk of neurodegeneration. Yet, hormone therapies (HTs) show varying efficacy, influenced by factors such as sex, drug type, and timing of treatment relative to hormone decline. We hypothesize that the molecular environment of the brain undergoes a transition following GHD, impacting the effectiveness of HTs. Using a GHD model in mice treated with Tibolone, we conducted proteomic analysis and identified a reprogrammed response to Tibolone, a compound that stimulates estrogenic, progestogenic, and androgenic pathways...
April 13, 2024: Journal of Steroid Biochemistry and Molecular Biology
https://read.qxmd.com/read/38614392/the-combined-effects-of-preservative-chemicals-in-consumer-products-an-analysis-using-embryonic-and-adult-zebrafish
#17
JOURNAL ARTICLE
Chaeun Park, Hyeri Jeon, Younglim Kho, Kyunghee Ji
Benzisothiazolinone (BIT) and propyl paraben (PP) are preservatives in cleaning products; however, their toxicities are not well understood. In this study, zebrafish embryos were exposed to BIT, PP, and mixtures of both for 96 h to investigate the effects on growth hormone (GH), insulin-like growth factor-1 (IGF-1), and the transcription of 19 genes related to the GH/IGFs axis. Concentrations of BIT and PP were measured in the whole body of larvae. Zebrafish pairs were also exposed to BIT, PP, and mixtures for 21 d to evaluate the effects on sex hormones, histology in gonad, and transcription of 22 genes related to the hypothalamus-pituitary-gonad axis and vitellogenin...
April 11, 2024: Chemosphere
https://read.qxmd.com/read/38612730/smelling-tnt-trends-of-the-terminal-nerve
#18
REVIEW
Wael Abu Ruqa, Fiorenza Pennacchia, Eqrem Rusi, Federica Zoccali, Giuseppe Bruno, Giuseppina Talarico, Christian Barbato, Antonio Minni
There is very little knowledge regarding the terminal nerve, from its implications in the involvement and pathogenesis of certain conditions, to its embryological origin. With this review, we try to summarize the most important evidence on the terminal nerve, aiming to clarify its anatomy and the various functions attributed to it, to better interpret its potential involvement in pathological processes. Recent studies have also suggested its potential role in the control of human reproductive functions and behaviors...
March 31, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38608673/role-of-anti-m%C3%A3-llerian-hormone-in-the-central-regulation-of-fertility
#19
JOURNAL ARTICLE
Ludovica Cotellessa, Paolo Giacobini
In recent years, the expanding roles of anti-Müllerian hormone (AMH) in various aspects of reproductive health have attracted significant attention. Initially recognized for its classical role in male sexual differentiation, AMH is produced postnatally by the Sertoli cells in the male testes and by the granulosa cells in the female ovaries. Traditionally, it was believed to primarily influence gonadal development and function. However, research over the last decade has unveiled novel actions of AMH beyond the gonads, specifically all along the hypothalamic-pituitary-gonadal axis...
April 12, 2024: Seminars in Reproductive Medicine
https://read.qxmd.com/read/38606585/estradiol-action-in-the-female-hypothalamo-pituitary-gonadal-axis
#20
REVIEW
Suzanne M Moenter, J Rudolph Starrett
It has now been about a century since a flurry of discoveries identified first the pituitary, then more specifically the anterior pituitary and soon thereafter the central nervous system as components regulating gonadal and downstream reproductive functions. This was an era of ablation/replacement designs using at first rudimentary and then increasingly pure preparations of gonadal and pituitary "activities" or transplanting actual glands, whole or homogenized, among subjects. There was, of course, controversy as is typical of lively and productive scientific debates to this day...
April 12, 2024: Journal of Neuroendocrinology
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