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Gonadal failure

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https://www.readbyqxmd.com/read/27898696/regulation-of-gonad-morphogenesis-in-drosophila-melanogaster-by-btb-family-transcription-factors
#1
Diane Silva, Kenneth W Olsen, Magdalena N Bednarz, Andrew Droste, Christopher P Lenkeit, Edwin Chaharbakhshi, Emily R Temple-Wood, Jennifer C Jemc
During embryogenesis, primordial germ cells (PGCs) and somatic gonadal precursor cells (SGPs) migrate and coalesce to form the early gonad. A failure of the PGCs and SGPs to form a gonad with the proper architecture not only affects germ cell development, but can also lead to infertility. Therefore, it is critical to identify the molecular mechanisms that function within both the PGCs and SGPs to promote gonad morphogenesis. We have characterized the phenotypes of two genes, longitudinals lacking (lola) and ribbon (rib), that are required for the coalescence and compaction of the embryonic gonad in Drosophila melanogaster...
2016: PloS One
https://www.readbyqxmd.com/read/27770600/inf2-and-fhod-related-formins-promote-ovulation-in-the-somatic-gonad-of-c-elegans
#2
Anna Hegsted, Forrest A Wright, SarahBeth Votra, David Pruyne
Formins are regulators of actin filament dynamics. We demonstrate here that two formins, FHOD-1 and EXC-6, are important in the nematode Caenorhabditis elegans for ovulation, during which actomyosin contractions push a maturing oocyte from the gonad arm into a distensible bag-like organ, the spermatheca. EXC-6, a homolog of the disease-associated mammalian formin INF2, is highly expressed in the spermatheca, where it localizes to cell-cell junctions and to circumferential actin filament bundles. Loss of EXC-6 does not noticeably affect the organization the actin filament bundles, and causes only a very modest increase in the population of junction-associated actin filaments...
October 22, 2016: Cytoskeleton
https://www.readbyqxmd.com/read/27753830/sy-03-3-overview-of-somatic-mutations-and-epigenetic-regulation-of-aldosterone-producing-adenoma-apa
#3
Satoshi Umemura
Primary aldosteronism (PA) is a heterogeneous group of disorders including both sporadic and familial forms (familial hyperaldosteronism type I, II and III). PA is the most frequent endocrine cause of secondary hypertension and associated with a higher rate of cardiovascular complications, compared with essential hypertension.Here I review the recent progress in understanding of the genetic and molecular mechanisms leading to autonomous aldosterone production in PA.Systematic screening detects primary aldosteronism in 5 to 10% of all patients with hypertension and in approximately 20% of patients with resistant hypertension...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27716277/array-cgh-diagnosis-in-ovarian-failure-identification-of-new-molecular-actors-for-ovarian-physiology
#4
Sylvie Jaillard, Linda Akloul, Marion Beaumont, Houda Hamdi-Roze, Christele Dubourg, Sylvie Odent, Solène Duros, Nathalie Dejucq-Rainsford, Marc-Antoine Belaud-Rotureau, Célia Ravel
BACKGROUND: Ovarian failure (OF) is considered premature if it occurs before the age of 40. This study investigates the genetic aetiology underlying OF in women under the age of 40 years. METHODS: We conducted an experimental prospective study performing all genome microarrays in 60 patients younger than 40 years presenting an OF revealed by a decrease of circulating Anti-Müllerian Hormone (AMH) and leading to an oocyte donation program. RESULTS: We identified nine significant copy number variations (CNVs) including candidate genes potentially implicated in reproductive function...
October 3, 2016: Journal of Ovarian Research
https://www.readbyqxmd.com/read/27697203/gonadotrope-tumors
#5
S L Asa, S Ezzat
Gonadotrope tumors arise from the gonadotropes of the adenohypophysis. These cells rarely give rise to hyperplasia, usually only in the setting of long-standing premature gonadal failure. In contrast, gonadotrope tumors represent one of the most frequent types of pituitary tumors. Despite their relatively common occurrence, the pathogenesis of gonadotrope tumors remains unknown. Effective nonsurgical therapies remain out of reach. We review the pituitary gonadotrope from the morphologic and functional perspectives to better understand its involvement as the cell of origin of a frequent type of pituitary tumor...
2016: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/27681884/induction-of-steroidogenic-cells-from-adult-stem-cells-and-pluripotent-stem-cells-review
#6
Takashi Yazawa, Yoshitaka Imamichi, Kaoru Miyamoto, Md Rafiqul Islam Khan, Junsuke Uwada, Akihiro Umezawa, Takanobu Taniguchi
Steroid hormones are mainly produced in adrenal glands and gonads. Because steroid hormones play vital roles in various physiological processes, replacement of deficient steroid hormones by hormone replacement therapy (HRT) is necessary for patients with adrenal and gonadal failure. In addition to HRT, tissue regeneration using stem cells is predicted to provide novel therapy. Among various stem cell types, mesenchymal stem cells can be differentiated into steroidogenic cells following ectopic expression of nuclear receptor (NR) 5A subfamily proteins, steroidogenic factor-1 (also known as adrenal 4 binding protein) and liver receptor homolog-1, with the aid of cAMP signaling...
November 30, 2016: Endocrine Journal
https://www.readbyqxmd.com/read/27650467/could-gonadal-and-adrenal-androgen-deficiencies-contribute-to-the-depressive-symptoms-in-men-with-systolic-heart-failure
#7
Katarzyna Kulej-Lyko, Jacek Majda, Stephan von Haehling, Wolfram Doehner, Monika Lopuszanska, Alicja Szklarska, Waldemar Banasiak, Stefan D Anker, Piotr Ponikowski, Ewa A Jankowska
BACKGROUND: Testosterone (TT) and dehydroepiandrosterone sulphate (DHEAS) are neurosteroids and their deficiencies constitute the hormone risk factors promoting the development of depression in elderly otherwise healthy men. We investigated the link between hypogonadism and depression in accordance with age and concomitant diseases in men with systolic HF using the novel scale previously dedicated for elderly population. METHODS: We analysed the prevalence of depression and severity of depressive symptoms in population of 226 men with systolic HF (40-80 years) compared to 379 healthy peers...
September 20, 2016: Aging Male: the Official Journal of the International Society for the Study of the Aging Male
https://www.readbyqxmd.com/read/27647650/-andrologic-consequences-of-chronic-renal-failure-state-of-the-art-for-the-yearly-scientific-report-of-the-french-national-association-of-urology
#8
Y Neuzillet, R Thuret, F Kleinclauss, M-O Timsit
OBJECTIVE: To describe the state of the art of current knowledge regarding gonadal consequences of end-stage chronic kidney disease (CKD) and renal transplantation. MATERIAL AND METHOD: A systematic review of the literature search was performed from the databases Medline (NLM, Pubmed) and Embase, focused on the following keywords: "chronic kidney disease"; "chronic renal failure"; "hypogonadism"; "kidney transplantation"; "testicular dysfunction"; "testosterone"...
September 16, 2016: Progrès en Urologie
https://www.readbyqxmd.com/read/27642883/sy-03-3-overview-of-somatic-mutations-and-epigenetic-regulation-of-aldosterone-producing-adenoma-apa
#9
Satoshi Umemura
Primary aldosteronism (PA) is a heterogeneous group of disorders including both sporadic and familial forms (familial hyperaldosteronism type I, II and III). PA is the most frequent endocrine cause of secondary hypertension and associated with a higher rate of cardiovascular complications, compared with essential hypertension.Here I review the recent progress in understanding of the genetic and molecular mechanisms leading to autonomous aldosterone production in PA.Systematic screening detects primary aldosteronism in 5 to 10% of all patients with hypertension and in approximately 20% of patients with resistant hypertension...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27637014/gonadal-function-is-associated-with-cardiometabolic-health-in-pre-pubertal-boys-with-klinefelter-syndrome
#10
S Davis, N Lahlou, M Bardsley, M-C Temple, K Kowal, L Pyle, P Zeitler, J Ross
The most common sex chromosome aneuploidy, Klinefelter syndrome (KS), is associated with primary gonadal failure and increased morbidity and mortality from cardiometabolic disorders in adulthood. Children with KS also have a high prevalence of metabolic syndrome (MetS) features. To assess the relationship of gonadal and cardiometabolic function in children with KS, we evaluated serum hormones [gonadotropins, inhibin B (INHB), anti-mullerian hormone (AMH), total testosterone (TT)], and features of MetS (waist circumference, fasting lipid panel, fasting blood glucose (FBG), and blood pressure) in 93 pre-pubertal boys with KS age 4-12 years (mean 7...
September 16, 2016: Andrology
https://www.readbyqxmd.com/read/27586847/gonadal-dysfunction-in-chronic-kidney-disease
#11
REVIEW
Biff F Palmer, Deborah J Clegg
Sexual dysfunction is a common finding in both men and women with chronic kidney failure. Common disturbances include erectile dysfunction in men, menstrual abnormalities in women, and decreased libido and fertility in both sexes. These abnormalities are primarily organic in nature and are related to uremia as well as the other comorbid conditions that frequently occur in the chronic kidney failure patient. Fatigue and psycho social factors related to the presence of a chronic disease are also contributory factors...
September 1, 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27575027/hsd3b1-and-resistance-to-androgen-deprivation-therapy-in-prostate-cancer-a-retrospective-multicohort-study
#12
Jason W D Hearn, Ghada AbuAli, Chad A Reichard, Chandana A Reddy, Cristina Magi-Galluzzi, Kai-Hsiung Chang, Rachel Carlson, Laureano Rangel, Kevin Reagan, Brian J Davis, R Jeffrey Karnes, Manish Kohli, Donald Tindall, Eric A Klein, Nima Sharifi
BACKGROUND: HSD3B1 (1245A>C) has been mechanistically linked to castration-resistant prostate cancer because it encodes an altered enzyme that augments dihydrotestosterone synthesis from non-gonadal precursors. We postulated that men inheriting the HSD3B1 (1245C) allele would exhibit resistance to androgen-deprivation therapy (ADT). METHODS: In this multicohort study, we determined HSD3B1 genotype retrospectively in men treated with ADT for post-prostatectomy biochemical failure and correlated genotype with long-term clinical outcomes...
October 2016: Lancet Oncology
https://www.readbyqxmd.com/read/27501986/stochastic-anomaly-of-methylome-but-persistent-sry-hypermethylation-in-disorder-of-sex-development-in-canine-somatic-cell-nuclear-transfer
#13
Young-Hee Jeong, Hanlin Lu, Chi-Hun Park, Meiyan Li, Huijuan Luo, Joung Joo Kim, Siyang Liu, Kyeong Hee Ko, Shujia Huang, In Sung Hwang, Mi Na Kang, Desheng Gong, Kang Bae Park, Eun Ji Choi, Jung Hyun Park, Yeon Woo Jeong, Changjong Moon, Sang-Hwan Hyun, Nam Hyung Kim, Eui-Bae Jeung, Huanming Yang, Woo Suk Hwang, Fei Gao
Somatic cell nuclear transfer (SCNT) provides an excellent model for studying epigenomic reprogramming during mammalian development. We mapped the whole genome and whole methylome for potential anomalies of mutations or epimutations in SCNT-generated dogs with XY chromosomal sex but complete gonadal dysgenesis, which is classified as 78, XY disorder of sex development (DSD). Whole genome sequencing revealed no potential genomic variations that could explain the pathogenesis of DSD. However, extensive but stochastic anomalies of genome-wide DNA methylation were discovered in these SCNT DSD dogs...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27473876/characterization-of-the-pou5f1-homologue-in-nile-tilapia-from-expression-pattern-to-biological-activity
#14
Huang Xiaohuan, Zhao Yang, Liu Linyan, Fan Zhenhua, Zhou Linyan, Wang Zhijian, Wei Ling, Wang Deshou, Wei Jing
POU5F1 (OCT4) is a crucial transcription factor for induction and maintenance of cellular pluripotency, as well as survival of germ cells in mammals. However, the homologues of POU5F1 in teleost fish, including zebrafish and medaka, now named Pou5f3, exhibit considerable differences in expression pattern and pluripotency-maintaining activity. To what extent the POU5F1 homologues are conserved in vertebrates has been unclear. In this study, we report that the POU5F1 homologue from the Nile tilapia (Oreochromis niloticus), OnPou5f3, displays an expression pattern and biological activity somewhat different from those in zebrafish or medaka...
September 15, 2016: Stem Cells and Development
https://www.readbyqxmd.com/read/27463801/nr5a1-loss-of-function-mutations-lead-to-46-xy-partial-gonadal-dysgenesis-phenotype-report-of-three-novel-mutations
#15
Helena C Fabbri, Juliana G Ribeiro de Andrade, Andréa T Maciel-Guerra, Gil Guerra-Júnior, Maricilda P de Mello
Mutations in the NR5A1 gene, which encodes the steroidogenic factor 1 (SF1), are responsible for different phenotypes of disorders of sex development (DSD), such as bilateral anorchia and hypospadias. Furthermore, they can be associated with primary amenorrhea, premature ovarian failure, male infertility, adrenal tumors, and endometriosis. Direct sequencing of the 7 NR5A1 exons including ∼1,000 bp of the 5'-upstream and 3'-downstream regions and all intron-exon boundaries was performed in patients with DSD...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/27454361/discovering-genes-essential-to-the-hypothalamic-regulation-of-human-reproduction-using-a-human-disease-model-adjusting-to-life-in-the-omics-era
#16
M I Stamou, K H Cox, William F Crowley
The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite coordination of an assortment of cellular networks, all converging on the GnRH neurons. These neurons have a complex life history, migrating mainly from the olfactory placode into the hypothalamus, where GnRH is secreted and acts as the master regulator of the hypothalamic-pituitary-gonadal axis. Much of what we know about the biology of the GnRH neurons has been aided by discoveries made using the human disease model of isolated GnRH deficiency (IGD), a family of rare Mendelian disorders that share a common failure of secretion and/or action of GnRH causing hypogonadotropic hypogonadism...
February 2016: Endocrine Reviews
https://www.readbyqxmd.com/read/27453009/the-effect-of-bone-marrow-derived-mesenchymal-stem-cells-on-chemotherapy-induced-ovarian-failure-in-albino-rats
#17
Hala Gabr, Moshira Abdelhakiim Rateb, Maha Hamdi El Sissy, Hanan Ahmed Seddiek, Sarah Ali Abdelhameed Gouda
OBJECTIVES: Chemotherapy targets rapidly dividing tissues in the body. It destroys the progenitor cells in gonads resulting in premature ovarian failure. Studies have suggested that bone marrow-derived stem cells can generate oocytes in chemotherapy treated female rats after transplantation. The present study aimed to assess mechanism of homing, the action of injected BM-MSCs on ovarian function after ovarian damage. EXPERIMENTAL DESIGN: Seventy two female albino rats were randomly allocated into Control and CTX group, The Experimental protocol was lasted for 12 weeks during which serum FSH and E2 were monitored twice at the end of the 2nd week (12 rats) and 8th week (6 rats)...
October 2016: Microscopy Research and Technique
https://www.readbyqxmd.com/read/27431683/identification-of-nr0b1-as-a-novel-androgen-receptor-co-repressor-in-mouse-sertoli-cells
#18
Yu-Chi Li, Man-Ling Luo, Huan Guo, Tian-Tian Wang, Shou-Ren Lin, Jian-Bo Chen, Qian Ma, Yan-Li Gu, Zhi-Mao Jiang, Yao-Ting Gui
Nuclear receptor subfamily 0 group B member 1 (Nr0b1) is an atypical member of the nuclear receptor family that is predominantly expressed in mouse Sertoli cells (SCs). Mutations of NR0B1 in humans cause adrenal failure and hypogonadotropic hypogonadism. The targeted mutagenesis of Nr0b1 in mice has revealed a primary gonadal defect characterized by the overexpression of aromatase and cellular obstruction of the seminiferous tubules and efferent ductules, leading to germ cell death and infertility. The transgenic expression of Nr0b1 under the control of the Müllerian-inhibiting substance promoter (MIS-Nr0b1), which is selectively expressed in SCs, improves fertility...
September 2016: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/27409225/phytotherapy-in-reducing-glycemic-index-and-testicular-oxidative-stress-resulting-from-induced-diabetes-a-review
#19
J S Oliveira, A A N Silva, V A Silva
Oxidative stress plays a main role in the development of diabetes complications. The impairment of gonadal antioxidant potential and endocrine disturbance in diabetic males causes testicular damage and failure in sperm production. Plants have been widely used to control diabetes due their hypoglycemic and antioxidant potential, contributing towards the recovery of testicular function. Current study comprises a review of the literature on the main medicinal plants used in the recovery of testicular oxidative damage in animals with experimental diabetes...
July 11, 2016: Brazilian Journal of Biology, Revista Brasleira de Biologia
https://www.readbyqxmd.com/read/27398041/fertility-risk-assessment-and-preservation-in-male-and-female-prepubertal-and-adolescent-cancer-patients
#20
REVIEW
Nikolaos Zavras, Charalampos Siristatidis, Argyris Siatelis, Anna Koumarianou
Cancer represents the second cause of death in prepubertal children and adolescents, although it is currently associated with an overall survival rate of 80%-85%. The annual incidence rate is 186.6 per 1 million children and adolescents aged up to 19 years. Both disease and treatment options are associated with life-altering, long-term effects that require monitoring. Infertility is a common issue, and as such, fertility preservation represents an essential part in the management of young patients with cancer who are at risk of premature gonadal failure...
2016: Clinical Medicine Insights. Oncology
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