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https://www.readbyqxmd.com/read/27900396/-persistent-mullerian-duct-syndrome-rare-incidental-finding-during-treatment-of-pediatric-inguinal-hernia
#1
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
#2
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
#3
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...
November 25, 2016: Pharmacology, Biochemistry, and Behavior
https://www.readbyqxmd.com/read/27871958/current-perspectives-on-stem-cell-therapy-for-erectile-dysfunction
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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 7, 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
#10
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
#11
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
https://www.readbyqxmd.com/read/27798415/recent-findings-on-the-genetics-of-disorders-of-sex-development
#12
Jessica Kremen, Yee-Ming Chan, Jonathan M Swartz
PURPOSE OF REVIEW: Disorders of sex development (DSD) are a diverse group of conditions affecting gonadal development, sexual differentiation, or chromosomal sex. In this review, we will discuss recent literature on the genetic causes of DSD, with a focus on novel genetic sequencing technologies, new phenotypes associated with known DSD genes, and increasing recognition of the role of genetic regulatory elements in DSD. RECENT FINDINGS: We performed a comprehensive search of PubMed through August 2016 to identify important peer-reviewed publications from 2015 to 2016 on the topic of DSD genetics...
January 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/27753553/firearm-ownership-among-military-veterans-with-ptsd-a-profile-of-demographic-and-psychosocial-correlates
#13
Adrienne J Heinz, Nicole L Cohen, Lori Holleran, Jennifer A Alvarez, Marcel O Bonn-Miller
Post-traumatic stress disorder (PTSD), a condition that disproportionately affects military veterans, is associated with heightened rates of aggression and suicide. Although experience with firearms is common among this population, virtually nothing is known regarding who is more likely to own a firearm and whether firearm ownership is differentially associated with psychological and behavioral risk factors among veterans with PTSD. Of 465 veterans (79% male) entering PTSD treatment, 28% owned a firearm (median number of firearms among owners = 3, range = 1-40)...
October 2016: Military Medicine
https://www.readbyqxmd.com/read/27737328/long-term-follow-up-of-a-female-with-congenital-adrenal-hyperplasia-due-to-p450-oxidoreductase-deficiency
#14
Beatriz D S F Bonamichi, Stella L M Santiago, Débora R Bertola, Chong A Kim, Nivaldo Alonso, Berenice B Mendonca, Tania A S S Bachega, Larissa G Gomes
P450 oxidoreductase deficiency (PORD) is a variant of congenital adrenal hyperplasia that is caused by POR gene mutations. The POR gene encodes a flavor protein that transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 type II (including 21-hydroxylase, 17α-hydroxylase 17,20 lyase and aromatase), which is fundamental for their enzymatic activity. POR mutations cause variable impairments in steroidogenic enzyme activities that result in wide phenotypic variability ranging from 46,XX or 46,XY disorders of sexual differentiation, glucocorticoid deficiency, with or without skeletal malformations similar to Antley-Bixler syndrome to asymptomatic newborns diagnosed during neonatal screening test...
October 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27652228/psychosexual-therapy-for-delayed-ejaculation-based-on-the-sexual-tipping-point-model
#15
REVIEW
Michael A Perelman
The Sexual Tipping Point(®) (STP) model is an integrated approach to the etiology, diagnosis and treatment of men with delayed ejaculation (DE), including all subtypes manifesting ejaculatory delay or absence [registered trademark owned by the MAP Educational Fund, a 501(c)(3) public charity]. A single pathogenetic pathway does not exist for sexual disorders generally and that is also true for DE specifically. Men with DE have various bio-psychosocial-behavioral & cultural predisposing, precipitating, maintaining, and contextual factors which trigger, reinforce, or worsen the probability of DE occurring...
August 2016: Translational Andrology and Urology
https://www.readbyqxmd.com/read/27607347/sexual-pain-in-women-exploring-the-manifestations-of-vaginismus-versus-vulvodynia
#16
Anna Ghizzani, Piersante Sestini
BACKGROUND: Sexual pain is frequently seen in gynecological practice as a consequence of lower tract pathology. When organic causes are ruled out we must think of a functional pain syndrome such as the genital pelvic pain/penetration disorder (GPPD) whose diagnostic criteria are defined by the Diagnostic and Statistic Manual-5; these criteria describe both vaginismus and vulvodynia that present themselves with somewhat different clinical dimensions and require different treatments. Even if gynecologists do not usually manage functional sexual pain, they can easily reach the differential diagnosis through the sexual pain anamnesis because some symptoms are specific of one or the other condition...
September 8, 2016: Minerva Ginecologica
https://www.readbyqxmd.com/read/27583472/identification-of-an-ar-mutation-negative-class-of-androgen-insensitivity-by-determining-endogenous-ar-activity
#17
N C Hornig, M Ukat, H U Schweikert, O Hiort, R Werner, S L S Drop, M Cools, I A Hughes, L Audi, S F Ahmed, J Demiri, P Rodens, L Worch, G Wehner, A E Kulle, D Dunstheimer, E Müller-Roßberg, T Reinehr, A T Hadidi, A K Eckstein, C van der Horst, C Seif, R Siebert, O Ammerpohl, P-M Holterhus
CONTEXT: Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. OBJECTIVE: The objective of the study was to clarify this discrepancy by in vitro determination of AR transcriptional activity in individuals with disorders of sex development (DSD) and male controls. DESIGN: Quantification of DHT-dependent transcriptional induction of the AR target gene apolipoprotein D (APOD) in cultured genital fibroblasts (GFs) (APOD assay) and next-generation sequencing of the complete coding and noncoding AR locus...
November 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27576114/recalled-and-current-gender-role-behavior-gender-identity-and-sexual-orientation-in-adults-with-disorders-differences-of-sex-development
#18
Nina Callens, Maaike Van Kuyk, Jet H van Kuppenveld, Stenvert L S Drop, Peggy T Cohen-Kettenis, Arianne B Dessens
The magnitude of sex differences in human brain and behavior and the respective contributions of biology versus socialization remain a topic of ongoing study in science. The preponderance of evidence attests to the notion that sexual differentiation processes are at least partially hormonally mediated, with high levels of prenatal androgens facilitating male-typed and inhibiting female-typed behaviors. In individuals with Disorders/Differences of Sex Development (DSD), hormonal profiles or sensitivities have been altered due to genetic influences, presumably affecting gender(ed) activity interests as well as gender identity development in a minority of the affected population...
August 27, 2016: Hormones and Behavior
https://www.readbyqxmd.com/read/27557947/medical-encounters-for-opioid-related-intoxications-in-southern-nevada-sociodemographic-and-clinical-correlates
#19
Jing Feng, Joseph P Iser, Wei Yang
BACKGROUND: Despite today's heightened concern over opioid overdose, the lack of population-based data examining clinical and contextual factors associated with opioid use represents a knowledge gap with relevance to prevention and treatment interventions. We sought to quantify rates of emergency department (ED) visits and inpatient hospitalizations for harmful opioid effects and their sociodemographic differentials as well as clinical correlates in Southern Nevada, using ED visit and hospital inpatient discharge records from 2011 to 2013...
2016: BMC Health Services Research
https://www.readbyqxmd.com/read/27543095/type-of-childhood-maltreatment-and-the-risk-of-criminal-recidivism-in-adult-probationers-a-cross-sectional-study
#20
Eun Young Kim, Jiung Park, Bongseog Kim
BACKGROUND: Childhood maltreatment is strongly associated with delinquency and the repeated crime. Specific types of childhood maltreatment have been found to have differential effects on recidivism in juvenile offenders, but studies of adult probationers have not been performed. This study investigated the relationship between having a history of childhood maltreatment and mental-health problems and the independent contribution of specific types of maltreatment and mental-health problems to the criminal recidivism of adult probationers...
2016: BMC Psychiatry
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