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disorders of sexual differentiation

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https://www.readbyqxmd.com/read/28095340/body-image-in-patients-with-mental-disorders-characteristics-associations-with-diagnosis-and-treatment-outcome
#1
Mia Scheffers, Jooske T van Busschbach, Ruud J Bosscher, Liza C Aerts, Durk Wiersma, Robert A Schoevers
OBJECTIVE: Despite the increasing recognition in clinical practice of body image problems in other than appearance related mental disorders, the question remains how aspects of body image are affected in different disorders. The aim of this study was to measure body image in patients with a variety of mental disorders and to compare scores with those in the general population in order to obtain more insight in the relative disturbance of body image in the patients group compared to healthy controls...
January 10, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28087634/genome-wide-identification-of-regulatory-elements-in-sertoli-cells
#2
Danielle M Maatouk, Anirudh Natarajan, Yoichiro Shibata, Lingyun Song, Gregory E Crawford, Uwe Ohler, Blanche Capel
A current goal of molecular biology is to identify transcriptional networks regulating cell differentiation. However, identifying functional gene regulatory elements has been challenging in the context of developing tissues where material is limited and cell types are mixed. To identify regulatory sites during sex determination, we subjected Sertoli cells from mouse fetal testes to DNaseI-seq and ChIP-seq for H3K27ac. DNaseI-seq identified putative regulatory sites around Sertoli- and pregranulosa-enriched genes; however, active enhancers marked by H3K27ac were enriched proximal only to Sertoli-enriched genes...
January 13, 2017: Development
https://www.readbyqxmd.com/read/28042822/enduring-sexually-dimorphic-impact-of-in-utero-exposure-to-elevated-levels-of-glucocorticoids-on-midbrain-dopaminergic-populations
#3
REVIEW
Glenda E Gillies, Kanwar Virdee, Ilse Pienaar, Felwah Al-Zaid, Jeffrey W Dalley
Glucocorticoid hormones (GCs) released from the fetal/maternal glands during late gestation are required for normal development of mammalian organs and tissues. Accordingly, synthetic glucocorticoids have proven to be invaluable in perinatal medicine where they are widely used to accelerate fetal lung maturation when there is risk of pre-term birth and to promote infant survival. However, clinical and pre-clinical studies have demonstrated that inappropriate exposure of the developing brain to elevated levels of GCs, either as a result of clinical over-use or after stress-induced activation of the fetal/maternal adrenal cortex, is linked with significant effects on brain structure, neurological function and behaviour in later life...
December 30, 2016: Brain Sciences
https://www.readbyqxmd.com/read/28041853/stem-cells-in-male-sexual-dysfunction-are-we-getting-somewhere
#4
REVIEW
Mohammad Ayodhia Soebadi, Uros Milenkovic, Emmanuel Weyne, Fabio Castiglione, Maarten Albersen
INTRODUCTION: Stem cells for sexual disorders are steadily being introduced into clinical trials. Two conditions of importance are the main target for this line of treatment, especially when regarding the wide array of translational and basic science highlighting the potential advantages of regenerative therapy: erectile dysfunction (ED) and more recently Peyronie disease (PD). Cellular therapy offers a treatment modality that might reverse disease progression. It would be used in a curative setting, in contrast to other pharmaceutical agents that are currently available...
December 29, 2016: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/28033663/review-disorders-of-sex-development-the-evolving-role-of-genomics-in-diagnosis-and-gene-discovery
#5
REVIEW
Brittany Croft, Katie Ayers, Andrew Sinclair, Thomas Ohnesorg
Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to occur in around 1.7% of all live births (Fausto-Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality, Basic Books, New York, 2000). They are often caused by the breakdown in the complex genetic mechanisms that underlie gonadal development and differentiation. Having a genetic diagnosis can be important for patients with a DSD: it can increase acceptance of a disorder often surrounded by stigma, alter clinical management and it can assist in reproductive planning...
December 2016: Birth Defects Research. Part C, Embryo Today: Reviews
https://www.readbyqxmd.com/read/27974129/-clinical-evaluation-and-management-of-neonates-with-disorder-of-sexual-development
#6
Hui Liu, Xiao-Mei Tong
Disorder of sexual development or disorder of sex differentiation (DSD) refers to the inconsistency between karyotype and gonad phenotype and/or gonad anatomy in neonates and is manifested as the difficulty in identifying neonates' sex. According to the karyotype, DSD is classified as 46,XY DSD, 46,XX DSD, and sex chromosome DSD. A combination of detailed medical history, physical examination, and laboratory and imaging examinations is required for the diagnosis and comprehensive assessment of neonatal DSD and the determination of potential causes in clinical practice...
December 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27959334/implication-of-notch1-gene-in-susceptibility-to-anxiety-and-depression-among-sexual-abuse-victims
#7
I M Steine, T Zayats, C Stansberg, S Pallesen, J Mrdalj, B Håvik, J Soulé, J Haavik, A M Milde, S Skrede, R Murison, J Krystal, J Grønli
Sexual abuse contributes to the development of multiple forms of psychopathology, including anxiety and depression, but the extent to which genetics contributes to these disorders among sexual abuse victims remains unclear. In this translational study, we first examined gene expression in the brains of rodents exposed to different early-life conditions (long, brief or no maternal separation). Hypothesizing that genes revealing changes in expression may have relevance for psychiatric symptoms later in life, we examined possible association of those genes with symptoms of anxiety and depression in a human sample of sexual abuse victims...
December 13, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27918876/awareness-of-identity-alteration-and-diagnostic-preference-between-borderline-personality-disorder-and-dissociative-disorders
#8
Vedat Sar, Firdevs Alioğlu, Gamze Akyuz, Emre Tayakısı, Ezgi F Öğülmüş, Doğuş Sönmez
AIM: This study inquires into identity alteration among college students and its relationship to borderline personality disorder (BPD) and/or dissociative disorders (DDs). METHODS: Steinberg Identity Alteration Questionnaire (SIAQ), Childhood Trauma Questionnaire (CTQ), and self-report screening tool of the BPD section of the Structured Clinical Interview for DSM-IV (SCID-BPD) were administered to 1301 college students. Participants who fit the diagnostic criteria of BPD (n = 80) according to the clinician-administered SCID-BPD and 111 non-BPD controls were evaluated using the Structured Clinical Interview for DSM-IV DDs (SCID-D) by two psychiatrists blind to the group membership and scale scores...
December 5, 2016: Journal of Trauma & Dissociation
https://www.readbyqxmd.com/read/27914563/differential-effects-of-testosterone-and-estradiol-on-clitoral-function-an-experimental-study-in-rats
#9
Paolo Comeglio, Ilaria Cellai, Sandra Filippi, Chiara Corno, Francesca Corcetto, Annamaria Morelli, Elena Maneschi, Elisa Maseroli, Edoardo Mannucci, Massimiliano Fambrini, Mario Maggi, Linda Vignozzi
INTRODUCTION: Female sexual response is a complex phenomenon in which psychological, neurologic, and vascular mechanisms and hormonal factors interact. During the arousal phase, they cooperate to increase genital blood flow, thus inducing engorgement of the clitoris and lubrication of the vagina. Regulation of vascular and non-vascular smooth muscle tone is the crucial event in the erectile process. Preclinical studies have suggested that nitric oxide (NO) is the main vasodilator neurotransmitter modulating, through the second messenger cyclic guanosine monophosphate (cGMP), clitoral flow vessels...
December 2016: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/27900396/-persistent-mullerian-duct-syndrome-rare-incidental-finding-during-treatment-of-pediatric-inguinal-hernia
#10
P Sperling, T Meyer
BACKGROUND: Persistent mullerian duct syndrome (PMDS) is a rare, autosomal recessive disorder. It is a form of male disorder of sexual differentiation in which mullerian duct structures are present in male phenotypes and 46XY karyotypes. In affected individuals, uterus, fallopian tubes, cervix and vagina are present. METHODS: A 2-month-old boy was admitted to hospital with a right-sided inguinal hernia. The physical examination showed a phenotypically normal boy with a right sided indirect inguinal hernia and impalpable testis...
November 29, 2016: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/27899901/association-of-aryl-hydrocarbon-receptor-related-gene-variants-with-the-severity-of-autism-spectrum-disorders
#11
Takashi X Fujisawa, Shota Nishitani, Ryoichiro Iwanaga, Junko Matsuzaki, Chisato Kawasaki, Mamoru Tochigi, Tsukasa Sasaki, Nobumasa Kato, Kazuyuki Shinohara
Exposure to environmental chemicals, such as dioxin, is known to have adverse effects on the homeostasis of gonadal steroids, thereby potentially altering the sexual differentiation of the brain to express autistic traits. Dioxin-like chemicals act on the aryl hydrocarbon receptor (AhR), polymorphisms, and mutations of AhR-related gene may exert pathological influences on sexual differentiation of the brain, causing autistic traits. To ascertain the relationship between AhR-related gene polymorphisms and autism susceptibility, we identified genotypes of them in patients and controls and determined whether there are different gene and genotype distributions between both groups...
2016: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/27894930/sex-dependent-influence-of-chronic-mild-stress-cms-on-voluntary-alcohol-consumption-study-of-neurobiological-consequences
#12
Eva M Marco, Javier Antonio Ballesta, Carlos Irala, María-Donina Hernández, María Elisa Serrano, Virginia Mela, Meritxell López-Gallardo, María-Paz Viveros
Alcohol use disorder and depression are highly comorbid, and both conditions exhibit important sexual dimorphisms. Here, we aimed to investigate voluntary alcohol consumption after 6weeks of chronic mild stress (CMS) in Wistar rats - employed as an animal model of depression. Male and female rats were investigated, and changes in several molecular markers were analysed in frontal cortex (FCx) and hippocampal formation (HF). CMS induced depressive-like responses in the forced swimming test - increased immobility time - in male and female animals, without affecting anhedonia (sucrose preference test) nor motor activity (holeboard); body weight gain and food intake were diminished only among CMS males...
January 2017: Pharmacology, Biochemistry, and Behavior
https://www.readbyqxmd.com/read/27871958/current-perspectives-on-stem-cell-therapy-for-erectile-dysfunction
#13
REVIEW
Taylor C Peak, James Anaissie, Wayne J G Hellstrom
INTRODUCTION: Erectile dysfunction (ED) is a common sexual disorder that affects the lives of millions of male patients and their partners. Various medical and surgical therapies exist, with the most common being oral intake of phosphodiesterase 5 inhibitors. One therapeutic strategy in preclinical development to treat ED is stem cell transplantation. AIM: To examine the studies that have investigated stem cells for the treatment of ED. METHODS: A literature review was performed through PubMed focusing on stem cells and ED...
July 2016: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/27870450/the-immune-system-as-a-novel-regulator-of-sex-differences-in-brain-and-behavioral-development
#14
REVIEW
Lars H Nelson, Kathryn M Lenz
Sexual differentiation of the brain occurs early in life as a result of sex-typical hormone action and sex chromosome effects. Immunocompetent cells are being recognized as underappreciated regulators of sex differences in brain and behavioral development, including microglia, astrocytes, and possibly other less well studied cell types, including T cells and mast cells. Immunocompetent cells in the brain are responsive to steroid hormones, but their role in sex-specific brain development is an emerging field of interest...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27870447/sex-on-the-brain-are-gender-dependent-structural-and-functional-differences-associated-with-behavior
#15
REVIEW
Anna Grabowska
A substantial number of studies provide evidence documenting a variety of sex differences in the brain. It remains unclear whether sexual differentiation at the neural level is related to that observed in daily behavior, cognitive function, and the risk of developing certain psychiatric and neurological disorders. Some investigators have questioned whether the brain is truly sexually differentiated and support this view with several arguments including the following: (1) brain structural or functional differences are not necessarily reflected in appropriate differences at the behavioral level, which might suggest that these two phenomena are not linked to each other; and (2) sex-related differences in the brain are rather small and concern features that significantly overlap between males and females...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27870428/-putative-sex-differences-in-neuroimmune-modulation-of-memory
#16
REVIEW
Natalie C Tronson, Katie M Collette
The neuroimmune system is significantly sexually dimorphic, with sex differences evident in the number and activation states of microglia, in the activation of astrocytes, and in cytokine release and function. Neuroimmune cells and signaling are now recognized as critical for many neural functions throughout the life span, including synaptic plasticity and memory function. Here we address the question of how cytokines, astrocytes, and microglia contribute to memory, and specifically how neuroimmune modulation of memory differentially affects males and females...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27846226/pleiotropic-mechanisms-indicated-for-sex-differences-in-autism
#17
Ileena Mitra, Kathryn Tsang, Christine Ladd-Acosta, Lisa A Croen, Kimberly A Aldinger, Robert L Hendren, Michela Traglia, Alinoë Lavillaureix, Noah Zaitlen, Michael C Oldham, Pat Levitt, Stanley Nelson, David G Amaral, Irva Herz-Picciotto, M Daniele Fallin, Lauren A Weiss
Sexual dimorphism in common disease is pervasive, including a dramatic male preponderance in autism spectrum disorders (ASDs). Potential genetic explanations include a liability threshold model requiring increased polymorphism risk in females, sex-limited X-chromosome contribution, gene-environment interaction driven by differences in hormonal milieu, risk influenced by genes sex-differentially expressed in early brain development, or contribution from general mechanisms of sexual dimorphism shared with secondary sex characteristics...
November 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27821748/spatiotemporal-dynamics-of-androgen-signaling-underlie-sexual-differentiation-and-congenital-malformations-of-the-urethra-and-vagina
#18
Christine E Larkins, Ana B Enriquez, Martin J Cohn
Disorders of sex development (DSDs) are congenital anomalies that affect sexual differentiation of genitourinary organs and secondary sex characters. A common cause of female genital virilization is congenital adrenal hyperplasia (CAH), in which excess androgen production during development of 46XX females can result in vaginal atresia, masculinization of the urethra, a single urogenital sinus, and clitoral hypertrophy or ambiguous external genitalia. Development of the vagina depends on sexual differentiation of the urogenital sinus ridge, an epithelial thickening that forms where the sex ducts attach to the anterior urethra...
November 22, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27821113/case-report-of-whole-genome-sequencing-in-the-xy-female-identification-of-a-novel-sry-mutation-and-revision-of-a-misdiagnosis-of-androgen-insensitivity-syndrome
#19
Sunita M C De Sousa, Karin S Kassahn, Liam C McIntyre, Chan-Eng Chong, Hamish S Scott, David J Torpy
BACKGROUND: The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated. CASE PRESENTATION: Herein we describe a 46,XY woman who was first diagnosed with androgen insensitivity syndrome (testicular feminisation) at 18 years; however, this was later questioned due to the presence of intact Müllerian structures...
November 8, 2016: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/27804859/intrinsic-disorder-in-male-sex-determination-disorderedness-of-proteins-from-the-sry-transcriptional-network
#20
Jean Merone, Onyekahi Nwogu, Jennifer M Redington, Vladimir N Uversky
Sex differentiation is a complex process where sexually indifferent embryo progressively acquires male or female characteristics via tightly controlled, perfectly timed, and sophisticatedly intertwined chain of events. This process is controlled and regulated by a set of specific proteins, with one of the first steps in sex differentiation being the activation of the Y-chromosomal Sry gene (sex-determining region Y) in males that acts as a switch from undifferentiated gonad somatic cells to testis development...
October 28, 2016: Current Protein & Peptide Science
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