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https://www.readbyqxmd.com/read/28926831/multiparameter-investigation-of-a-46-xx-46-xy-tetragametic-chimeric-phenotypical-male-patient-with-bilateral-scrotal-ovotestes-and-ovulatory-activity
#1
Yolande van Bever, Katja P Wolffenbuttel, Hennie T Brüggenwirth, Eric Blom, Annelies de Klein, Bert H J Eussen, Florijn van der Windt, Sabine E Hannema, Arianne B Dessens, Lambert C J Dorssers, Katharina Biermann, Remko Hersmus, Yolanda B de Rijke, Leendert H J Looijenga
We report on an adult male initially presenting with gynecomastia and a painless scrotal mass without additional genital anomalies. Hyperpigmentation of the skin following the Blaschko's lines was identified. He underwent gonadectomy because of suspected cancer. Histological analyses revealed an ovotestis with ovulatory activity confirmed by immunohistochemistry with multiple markers. Karyotyping of cultured peripheral blood lymphocytes and a buccal smear revealed a 46,XX/46,XY chimeric constitution with different percentages...
September 20, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28925024/complete-characterization-of-new-isolates-of-neptunomonas-phycophila-leads-to-emend-its-description-and-opens-possibilities-of-biotechnological-applications
#2
Ana L Diéguez, Phillip Pichon, Sabela Balboa, Thorolf Magnesen, Jesús L Romalde
Five strains were isolated from gonad of Great scallop (Pecten maximus) broodstock in a Norwegian hatchery. The study of 16S rRNA gene sequences showed that these isolates belong to Neptunomonas phycophila, a bacterium originally isolated from a symbiont of the anemone Aiptasia tagetes from Puerto Rico. The gyrB and rpoB genes sequences confirmed the affiliation of the scallop isolates to this species. Phenotypic characterization was performed and some differences between the Norwegian isolates and the type strain of N...
September 18, 2017: MicrobiologyOpen
https://www.readbyqxmd.com/read/28924487/a-novel-stop-mutation-p-gln22-of-dax1-nr0b1-results-in-late-onset-x-linked-adrenal-hypoplasia-congenita
#3
Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner, Marcus Quinkler
DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. However, patients with a late-onset form of X-linked AHC have also been described in the past years...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28923704/cloning-characterisation-docking-and-expression-analysis-of-3-beta-hydroxysteroid-dehydrogenase-during-ontogenetic-development-and-annual-reproductive-cycles-in-catfish-clarias-batrachus
#4
Irfan Ahmad Bhat, Mohd Ashraf Rather, Mir Ishfaq Nazir, Gireesh-Babu Pathakota, Mukunda Goswami, J K Sundaray, Rupam Sharma
Fish like higher animals, have a well-defined mechanism to produce sex steroids that play a critical role in gonadal development and maturation. In this study, we aimed to analyse the expression pattern of 3β-HSD in different tissues, during ontogenetic development and gonadal recrudescence of Clarias batrachus. A full-length cDNA of 1617 bp including an open reading frame (ORF) of 1125 bp encoding 374 amino acids was isolated from testes of C. batrachus. The docking analysis between C. batrachus 3β-HSD protein and eurycomanone exhibited high binding affinity toward each other with total energy of -108...
September 11, 2017: Theriogenology
https://www.readbyqxmd.com/read/28923703/transcriptome-analysis-of-three-critical-periods-of-ovarian-development-in-yellow-river-carp-cyprinus-carpio
#5
Yongfang Jia, Ping Nan, Wanwan Zhang, Fang Wang, Ruihua Zhang, Tingting Liang, Xiaolin Ji, Qiyan Du, Zhongjie Chang
Ovary development is a complex process involving numerous genes; the molecular mechanism underlying the ovary development of carp is still unknown. Here we used Illumina HiSeq™ 2500 to explore the transcriptome of undifferentiated gland (PG), juvenile ovary (OJ) and adult ovary (OA) of Yellow River carp (Cyprinus carpio). A total of 58,749 unigenes were obtained, comprising 45,707 known genes and 13,042 new genes. We identified differentially-expressed genes (DEGs) during development and characterized the functional properties of DEGs by comparison with the gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes databases...
September 9, 2017: Theriogenology
https://www.readbyqxmd.com/read/28923284/fertility-outcome-and-information-on-fertility-issues-in-individuals-with-different-forms-of-disorders-of-sex-development-findings-from-the-dsd-life-study
#6
Jolanta Słowikowska-Hilczer, Angelica Lindén Hirschberg, Hedi Claahsen-van der Grinten, Nicole Reisch, Claire Bouvattier, Ute Thyen, Peggy Cohen Kettenis, Robert Roehle, Birgit Köhler, Anna Nordenström
OBJECTIVE: To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received. DESIGN: A cross-sectional multicenter study, dsd-LIFE. SETTING: Not applicable. PATIENT(S): A total of 1,040 patients aged ≥16 years with different DSD diagnoses participated...
September 15, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28921784/the-evolution-of-gonad-expenditure-and-gonadosomatic-index-gsi-in-male-and-female-broadcast-spawning-invertebrates
#7
Geoff A Parker, Steven A Ramm, Jussi Lehtonen, Jonathan M Henshaw
Sedentary broadcast-spawning marine invertebrates, which release both eggs and sperm into the water for fertilization, are of special interest for sexual selection studies. They provide unique insight into the early stages of the evolutionary succession leading to the often-intense operation of both pre- and post-mating sexual selection in mobile gonochorists. Since they are sessile or only weakly mobile, adults can interact only to a limited extent with other adults and with their own fertilized offspring...
September 18, 2017: Biological Reviews of the Cambridge Philosophical Society
https://www.readbyqxmd.com/read/28921562/a-novel-approach-using-long-read-sequencing-and-ddpcr-to-investigate-gonadal-mosaicism-and-estimate-recurrence-risk-in-two-families-with-developmental-disorders
#8
Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, Adam Ameur, Eva-Lena Stattin, Göran Annerén, Helena Malmgren, Carina Frykholm, Marie-Louise Bondeson
OBJECTIVE: De novo mutations contribute significantly to severe early-onset genetic disorders. Even if the mutation is apparently de novo there is a recurrence risk due to parental germ line mosaicism, depending on the gonadal generation the mutation occurred. METHODS: We demonstrate the power of using SMRT sequencing and ddPCR to determine parental origin and allele frequencies of de novo mutations in germ cells in two families whom had undergone assisted reproduction...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28920944/the-dosage-dependent-effect-exerted-by-the-nm23-h1-h2-homolog-ndk-1-on-distal-tip-cell-migration-in-c-elegans
#9
Zsolt Farkas, Luca Fancsalszky, Éva Saskői, Alexandra Gráf, Krisztián Tárnok, Anil Mehta, Krisztina Takács-Vellai
Abnormal regulation of cell migration and altered rearrangement of the cytoskeleton are fundamental properties of metastatic cells. The first identified metastasis suppressor NM23-H1, which displays nucleoside-diphosphate kinase (NDPK) activity is involved in these processes. NM23-H1 inhibits the migratory and invasive potential of some cancer cells. Correspondingly, numerous invasive cancer cell lines (eg, breast, colon, oral, hepatocellular carcinoma, and melanoma) display low endogenous NM23 levels. In this review, we summarize mechanisms, which are linked to the anti-metastatic activity of NM23...
September 18, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28919554/revisiting-the-wandering-womb-oxytocin-in-endometriosis-and-bipolar-disorder
#10
REVIEW
Natalie L Dinsdale, Bernard J Crespi
Hippocrates attributed women's high emotionality - hysteria - to a 'wandering womb'. Although hysteria diagnoses were abandoned along with the notion that displaced wombs cause emotional disturbance, recent research suggests that elevated levels of oxytocin occur in both bipolar disorder and endometriosis, a gynecological condition involving migration of endometrial tissue beyond the uterus. We propose and evaluate the hypothesis that elevated oxytocinergic system activity jointly contributes to bipolar disorder and endometriosis...
September 14, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/28919010/germ-cell-proliferation-and-apoptosis-during-testicular-regression-in-a-seasonal-breeding-fish-kept-in-captivity
#11
Yves Moreira Ribeiro, Santer Alvares de Matos, Fabricio Flavio Theophilo Domingos, Helio Batista Dos Santos, Augusto Bicalho Cruz Vieira, Nilo Bazzoli, Elizete Rizzo
Cell proliferation and apoptosis regulate germ cells stock and sperm production, eliminate anomalous gametes, and are essential parameters to consider in fish farming. Herein, spermatogenic activity as well as germ cell proliferation and apoptosis were assessed in Leporinus taeniatus, a seasonal breeding species from the São Francisco River basin, Brazil. Testes of 24 adult fishes from a farming station were sampled between December and July and processed for light and transmission electron microscopy and immunohistochemistry for PCNA and TUNEL assay...
September 12, 2017: Tissue & Cell
https://www.readbyqxmd.com/read/28918476/effects-of-stocking-density-on-lipid-deposition-and-expression-of-lipid-related-genes-in-amur-sturgeon-acipenser-schrenckii
#12
Yuanyuan Ren, Haishen Wen, Yun Li, Jifang Li, Feng He, Meng Ni
To investigate the correlation between lipid deposition variation and stocking density in Amur sturgeon (Acipenser schrenckii) and the possible physiological mechanism, fish were conducted in different stocking densities (LSD 5.5 kg/m(3), MSD 8.0 kg/m(3), and HSD 11.0 kg/m(3)) for 70 days and then the growth index, lipid content, lipase activities, and the mRNA expressions of lipid-related genes were examined. Results showed that fish subjected to higher stocking density presented lower final body weights (FBW), specific growth ratio (SGR), and gonad adipose tissue index (GAI) (P < 0...
September 16, 2017: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/28917944/tetrabromoethylcyclohexane-affects-gonadal-differentiation-and-development-in-the-frog-pelophylax-nigromaculatus
#13
Peng-Yan Liu, Tan Meng, Yuan-Yuan Li, Man Cai, Xing-Hong Li, Juan Chen, Zhan-Fen Qin
Tetrabromoethylcyclohexane (TBECH), an additive brominated flame retardant, has been shown to have an androgenic activity in vitro. In the present study, we aimed to investigate the effects of TBECH on gonadal differentiation and development in the frog Pelophylax nigromaculatus, an amphibian species sensitive to androgenic chemicals, and to assess the androgenic activity of TBECH in vivo. P. nigromaculatus tadpoles were exposed to TBECH (1, 10, 100nM) from Gosner stage 24 to complete metamorphosis, and to 5α-dihydrotestosterone (DHT) as a positive control...
September 9, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28917585/total-urogenital-sinus-mobilization-for-ambiguous-genitalia
#14
Vinicius Menezes Jesus, Francisco Buriti, Rodrigo Lessa, Maria Betânia Toralles, Luciana Barros Oliveira, Ubirajara Barroso
INTRODUCTION: Genital ambiguity is a very common phenomenon in disorders of sex development (DSD). According to the Chicago Consensus 2006, feminizing genitoplasty, when indicated, should be performed in the most virilized cases (Prader III to V). Advances in the knowledge of genital anatomy in DSD have enabled the development and improvement of various surgical techniques. Mobilization of the urogenital sinus (MUS), first described by Peña, has become incorporated by most surgeons. However, the proximity of the urethral sphincter prompts concern over urinary incontinence, especially for full mobilization of the urogenital sinus...
August 24, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28917444/developing-a-hospital-wide-fertility-preservation-service-for-pediatric-and-young-adult-patients
#15
Claire A Carlson, Thomas F Kolon, Peter Mattei, Wendy Hobbie, Clarisa R Gracia, Sue Ogle, Jill P Ginsberg
PURPOSE: Gonadal damage is a common consequence of treatment for pediatric malignancies. Nononcologic conditions may also utilize treatments with potential impact on fertility. Models for oncology fertility preservation programs have emerged and demonstrate that a multidisciplinary team approach can have a positive impact on referral patterns, appropriate risk counseling, and access to fertility preservation options. Expansion of programmatic breadth is needed, providing improved care to nonmalignant conditions where the disease itself may impact reproductive health or treatment modalities...
September 13, 2017: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
https://www.readbyqxmd.com/read/28915543/effects-of-diisononyl-phthalate-on-danio-rerio-reproduction
#16
Stefania Santangeli, Francesca Maradonna, Maya Zanardini, Valentina Notarstefano, Giorgia Gioacchini, Isabel Forner-Piquer, Hamid Habibi, Oliana Carnevali
Di-isononyl phthalate (DiNP) is a high molecular weight phthalate commonly used as a plasticizer. It was introduced as a replacement for bis (2-ethylhexyl) phthalate (DEHP) which is used in the production of plasticized polyvinyl chloride (PVC). The purpose of this study was to investigate for the first time the effect of DiNP on female reproductive physiology in Danio rerio. Fish were exposed to five different doses of DiNP plus control (0 μg/L; 0.42 μg/L; 4.2 μg/L; 42 μg/L; 420 μg/L; 4200 μg/L) for a period of 21 days...
September 11, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28915398/masculinization-and-reproductive-effects-in-western-mosquitofish-gambusia-affinis-after-long-term-exposure-to-androstenedione
#17
Li-Ping Hou, Yang Yang, Hu Shu, Guang-Guo Ying, Jian-Liang Zhao, Gui-Zhen Fang, Li Xin, Wen-Jun Shi, Li Yao, Xue-Mei Cheng
Androstenedione (AED) is a naturally occurring steroid hormone. It is metabolized to potent androgens, which may induce androgenic effects in fish. However, little is known whether and how the androgens interfere with the fish gonadal development and reproduction. This study aimed at demonstrating the effects of long-term AED exposure on reproduction and development in mosquitofish (Gambusia affinis). The growth, development and several morphological endpoints, including the segment number and length of anal fin, histological changes of gonads and liver, were evaluated in mosquitofish during development from fertilized embryo to adulthood (180 days) after exposure of AED at environmentally relevant concentrations...
September 12, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28914051/chromosome-centric-human-proteome-project-allies-with-developmental-biology-a-case-study-of-the-role-of-y-chromosome-genes-in-organ-development
#18
Anna Meyfour, Paria Pooyan, Sara Pahlavan, Mostafa Rezaei-Tavirani, Hamid Gourabi, Hossein Baharvand, Ghasem Hosseini Salekdeh
One of the main goals of Chromosome-Centric Human Proteome Project is to identify protein evidence for missing proteins (MPs). Here, we present a case study of the role of Y chromosome genes in organ development and how to overcome the challenges facing MPs identification by employing human pluripotent stem cell differentiation into cells of different organs yielding unprecedented biological insight into adult silenced proteins. Y chromosome is a male-specific sex chromosome which escapes meiotic recombination...
September 15, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28913865/transcriptome-characterization-of-hpg-axis-from-chinese-sea-perch-lateolabrax-maculatus
#19
Z P Wang, D Wang, C L Wang, W J Xie, Y F Zhu, X W Chen
Here the transcriptome and differential gene expression in the adult brain and gonads of the Chinese sea perch Lateolabrax maculatus were reported. A total of 78 256 909 clean reads were generated from the adult brain, ovary and testis by using the Illumina HiSeq2000 platform and assembled into 274 909 contigs. A total of 31 683 unigenes were annotated based on sequence similarity and 20 702 unigenes were found to exhibit 8237 gene ontology terms and 3888 signal pathways. Transcripts of 26 623 unigenes were present in all of the tissues, whereas pairwise comparisons revealed that 671/367, 496/315 and 1668/580 unigenes were up-down regulated by at least two-fold between the brain and ovary, ovary and testis and brain and testis, respectively...
September 14, 2017: Journal of Fish Biology
https://www.readbyqxmd.com/read/28913548/changes-in-histopathology-enzyme-activities-and-the-expression-of-relevant-genes-in-zebrafish-danio-rerio-following-long-term-exposure-to-environmental-levels-of-thallium
#20
Li-Ping Hou, Yang Yang, Hu Shu, Guang-Guo Ying, Jian-Liang Zhao, Yi-Bing Chen, Yong-Heng Chen, Gui-Zhen Fang, Xin Li, Ji-Sheng Liu
Thallium is a rare-earth element, but widely distributed in water environments, posing a potential risk to our health. This study was designed to investigate the chronic effects of thallium based on physiological responses, gene expression, and changes in the activity of relevant enzymes in adult zebra fish exposed to thallium at low doses. The endpoints assessed include mRNA expression of metallothionein (MT)2 and heat shock protein HSP70; enzymatic activities of superoxide dismutase (SOD) and Na(+)/K(+)-ATPase; and the histopathology of gill, gonad, and liver tissues...
September 14, 2017: Bulletin of Environmental Contamination and Toxicology
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