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Disorders of sexual development

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https://www.readbyqxmd.com/read/29668062/long-term-outcomes-and-molecular-analysis-of-a-large-cohort-of-patients-with-46-xy-disorder-of-sex-development-due-to-partial-gonadal-dysgenesis
#1
Nathalia Lisboa Gomes, Antônio Marcondes Lerário, Aline Machado Zamboni, Daniela Rodrigues de Moraes, Thatiana Evilen da Silva, Ivo Jorge Prado Arnhold, Rafael Loch Batista, José Antônio Diniz Faria Júnior, Elaine F Costa, Mirian Y Nishi, Marlene Inacio, Sorahia Domenice, Berenice B Mendonca
BACKGROUND: Follow-up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information on prognosis difficult. OBJECTIVE: To analyse the long-term outcomes of patients with 46,XY PGD regarding testosterone production, germ cell tumour risk, genotype, and psychosexual adaptation. METHODS: A retrospective longitudinal study of 33 patients (20 assigned male and 13 patients assigned female at birth). Molecular diagnosis was performed by Sanger sequencing or by targeted massively parallel sequencing of 63 genes related to disorders of sex development (DSDs)...
April 18, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29661835/sexual-differentiation-of-contextual-fear-responses
#2
Lorianna Colon, Natalie Odynocki, Anthony Santarelli, Andrew M Poulos
Development and sex differentiation impart an organizational influence on the neuroanatomy and behavior of mammalian species. Prior studies suggest that brain regions associated with fear motivated defensive behavior undergo a protracted and sex-dependent development. Outside of adult animals, evidence for developmental sex differences in conditioned fear is sparse. Here, we examined in male and female Long-Evans rats how developmental age and sex affect the long-term retention and generalization of Pavlovian fear responses...
May 2018: Learning & Memory
https://www.readbyqxmd.com/read/29661117/sexual-victimization-and-mental-illness-prevalence-rates-among-incarcerated-women-a-literature-review
#3
Marie E Karlsson, Melissa J Zielinski
Incarcerated women evidence high rates of both interpersonal trauma and mental illness. In particular, the rates of sexual violence victimization are so high that some researchers have suggested that sexual abuse may be a pathway to prison for women, likely through the development of mental illness, including substance abuse. This review article summarizes the literature on sexual victimization ( n = 32 articles; 28 independent studies) and mental illness ( n = 11 articles; 8 independent studies) prevalence among samples of incarcerated women ( Ns ≥ 100) in context of methodological choices within included articles...
January 1, 2018: Trauma, Violence & Abuse
https://www.readbyqxmd.com/read/29660018/sexual-assault-and-disabling-ptsd-in-active-duty-service-women
#4
Denise Parnell, Vasudha Ram, Paulette Cazares, Jennifer Webb-Murphy, Melanie Roberson, Shiva Ghaed
Introduction: Sexual assault in the military is a major concern and may result in significant health problems, such as post-traumatic stress disorder (PTSD). Those developing disabling PTSD symptoms may require a disability evaluation. We examined disability evaluation trends for service women with PTSD to better understand characteristics associated with inability to continue Active Duty service. Methods: This is a retrospective review of disability reports and electronic medical records for 322 Active Duty women diagnosed with and treated for PTSD by psychiatrists and psychologists at a large military treatment facility between 2011 and 2014...
April 6, 2018: Military Medicine
https://www.readbyqxmd.com/read/29658497/-addictions-profiles-as-a-tool-for-comparison-of-chemical-and-nonchemical-dependencies
#5
K Yu Zalmunin, V D Mendelevich
AIM: A clinical and phenomenological comparative evaluation of addictions (alcoholism, drug addiction, sexual and tobacco dependence, pathological gambling) to develop integrative methods for the assessment of comparative performance profiles of addictive disorders. MATERIAL AND METHODS: One hundred and forty-six patients were examined using clinical, psychometric and statistical methods. RESULTS AND CONCLUSION: Addiction profiles were described and addictive potentials were compared...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29655603/new-technologies-to-uncover-the-molecular-basis-of-disorders-of-sex-development
#6
REVIEW
Hayk Barseghyan, Emmanuèle C Délot, Eric Vilain
The elegant developmental biology experiments conducted in the 1940s by French physiologist Alfred Jost demonstrated that the sexual phenotype of a mammalian embryo depended whether the embryonic gonad develops into a testis or not. In humans, anomalies in the processes that regulate development of chromosomal, gonadal or anatomic sex result in a spectrum of conditions termed Disorders/Differences of Sex Development (DSD). Each of these conditions is rare, and understanding of their genetic etiology is still incomplete...
April 12, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29616484/broad-autism-phenotypic-traits-and-the-relationship-to-sexual-orientation-and-sexual-behavior
#7
Lydia R Qualls, Kathrin Hartmann, James F Paulson
Individuals with higher levels of the broad autism phenotype (BAP) have some symptoms of autism spectrum disorder (ASD). Like individuals with ASD, people with higher-BAP may have fewer sexual experiences and may experience more same-sex attraction. This study measured BAP traits, sexual experiences, and sexual orientation in typically developing (TD) individuals to see if patterns of sexual behavior and sexual orientation in higher-BAP resemble those in ASD. Although BAP characteristics did not predict sexual experiences, one BAP measure significantly predicted sexual orientation, β = 0...
April 3, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29615937/reflecting-on-the-germanwings-disaster-a-systematic-review-of-depression-and-suicide-in-commercial-airline-pilots
#8
Terouz Pasha, Paul R A Stokes
Background: The 2015 Germanwings Flight 9525 disaster, in which 150 people were killed after the co-pilot may have intentionally crashed the plane in a suicide attempt, highlights the importance of better understanding the mental health of commercial airline pilots. However, there have been few systematic reviews investigating the topic of mental health in commercial aviation. This systematic review aims to identify the types and prevalence of mental health disorders that commercial airline pilots experience with a focus on mood disorders and suicide risk...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29615005/improving-risk-prediction-accuracy-for-new-soldiers-in-the-u-s-army-by-adding-self-report-survey-data-to-administrative-data
#9
Samantha L Bernecker, Anthony J Rosellini, Matthew K Nock, Wai Tat Chiu, Peter M Gutierrez, Irving Hwang, Thomas E Joiner, James A Naifeh, Nancy A Sampson, Alan M Zaslavsky, Murray B Stein, Robert J Ursano, Ronald C Kessler
BACKGROUND: High rates of mental disorders, suicidality, and interpersonal violence early in the military career have raised interest in implementing preventive interventions with high-risk new enlistees. The Army Study to Assess Risk and Resilience in Servicemembers (STARRS) developed risk-targeting systems for these outcomes based on machine learning methods using administrative data predictors. However, administrative data omit many risk factors, raising the question whether risk targeting could be improved by adding self-report survey data to prediction models...
April 3, 2018: BMC Psychiatry
https://www.readbyqxmd.com/read/29608076/body-image-and-self-esteem-in-disorders-of-sex-development-a-european-multicenter-study
#10
Tim C van de Grift, Peggy T Cohen-Kettenis, Annelou L C de Vries, Baudewijntje P C Kreukels
OBJECTIVE: Disorders/differences of sex development (DSD) refer to congenital conditions with atypical sex development and are associated with psychosexual issues. The aim of this study was to assess body image and self-esteem across the DSD spectrum and to study the impact of diagnosis and mediating characteristics. METHOD: Data collection was part of dsd-LIFE, a cross-sectional study conducted by 14 European expert clinics on wellbeing and health care evaluation of adults diagnosed with DSD...
April 2018: Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association
https://www.readbyqxmd.com/read/29606595/-informative-predation-towards-a-new-species-concept
#11
Philippe Lherminier
We distinguish two types of predations: the predation of matter-energy equals the food chain, and the informative predation is the capture of the information brought by the sexual partners. The cell or parent consumes energy and matter to grow, multiply and produce offspring. A fixed amount of resources is divided by the number of organisms, so individual growth and numerical multiplication are limited by depletion resources of the environment. Inversely, fertilization does not destroy information, but instead produces news...
March 29, 2018: Comptes Rendus Biologies
https://www.readbyqxmd.com/read/29594260/endocrine-disorders-in-primary-mitochondrial-disease
#12
Iman S Al-Gadi, Richard H Haas, Marni J Falk, Amy Goldstein, Shana E McCormack
Context: Endocrine disorders are common in individuals with mitochondrial disease. To develop evidence-based screening practices in this high-risk population, updated age-stratified estimates of the prevalence of endocrine conditions are needed. Objective: To measure the point prevalence of selected endocrine disorders in individuals with mitochondrial disease. Design Setting and Patients: The North American Mitochondrial Disease Consortium Patient Registry is a large, prospective, physician-curated cohort study of individuals with mitochondrial disease...
April 1, 2018: Journal of the Endocrine Society
https://www.readbyqxmd.com/read/29593659/how-to-control-htlv-1-associated-diseases-preventing-de-novo-cellular-infection-using-antiviral-therapy
#13
Amandine Pasquier, Sandrine Alais, Loic Roux, Maria-Isabel Thoulouze, Karine Alvarez, Chloé Journo, Hélène Dutartre, Renaud Mahieux
Five to ten million individuals are infected by Human T-cell Leukemia Virus type 1 (HTLV-1). HTLV-1 is transmitted through prolonged breast-feeding, by sexual contacts and by transmission of infected T lymphocytes through blood transfusion. One to ten percent of infected carriers will develop a severe HTLV-1-associated disease: Adult-T-cell leukemia/lymphoma (ATLL), or a neurological disorder named Tropical Spastic Paraparesis/HTLV-1 Associated Myelopathy (TSP/HAM). In vivo , HTLV-1 is mostly detected in CD4+ T-cells, and to a lesser extent in CD8+ T cells and dendritic cells...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29582157/next-generation-sequencing-reveals-genetic-landscape-in-46-xy-disorders-of-sexual-development-patients-with-variable-phenotypes
#14
Hao Wang, Lele Zhang, Nan Wang, Hui Zhu, Bing Han, Feng Sun, Haijun Yao, Qiang Zhang, Wenjiao Zhu, Tong Cheng, Kaixiang Cheng, Yang Liu, Shuangxia Zhao, Huaidong Song, Jie Qiao
Disorders of sexual development (DSD) are rare congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. Currently, less than 20% of patients receive an accurate genetic diagnosis. Targeted next-generation sequencing, consisting of 33 candidate genes and 47 genes involved in sexual differentiation and development, was performed on 70 46, XY DSD patients. Functional assays were performed to evaluate the expression and transcriptional activity of one reported and nine novel mutations of NR5A1...
March 2018: Human Genetics
https://www.readbyqxmd.com/read/29581155/disorders-of-sex-development-timing-of-diagnosis-and-management-in-a-single-large-tertiary-center
#15
Ella Kohva, Päivi Miettinen, Seppo Taskinen, Matti Hero, Annika Tarkkanen, Taneli Raivio
BACKGROUND: We describe the phenotypic spectrum and timing of diagnosis and management in a large series of patients with disorders of sexual development (DSD) treated in a single pediatric tertiary center. METHODS: DSD patients who had visited our tertiary center during the survey period (between 2004 and 2014) were identified based on an ICD-10 inquiry, and their phenotypic and molecular genetic findings were recorded from patient charts. RESULTS: Among the 550 DSD patients, 53...
March 26, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29579119/high-levels-of-caregiver-burden-in-prader-willi-syndrome
#16
Nathalie Kayadjanian, Lauren Schwartz, Evan Farrar, Katherine Anne Comtois, Theresa V Strong
OBJECTIVES: Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder that is characterized by hyperphagia, developmental delay, incomplete sexual development, mild-to-moderate intellectual disability, and a variety of challenging behavioral and psychiatric symptoms. The characteristics of PWS can be difficult for caregivers to cope with and are likely to cause significant and long- term caregiver burden. The current study examined burden in 142 caregivers of children and adults with PWS living in the US using the Zarit Burden Interview (ZBI)...
2018: PloS One
https://www.readbyqxmd.com/read/29577166/an-international-urogynecological-association-iuga-international-continence-society-ics-joint-report-on-the-terminology-for-the-assessment-of-sexual-health-of-women-with-pelvic-floor-dysfunction
#17
Rebecca G Rogers, Rachel N Pauls, Ranee Thakar, Melanie Morin, Annette Kuhn, Eckhard Petri, Brigitte Fatton, Kristene Whitmore, Sheryl A Kingsberg, Joseph Lee
INTRODUCTION AND HYPOTHESIS: The terminology in current use for sexual function and dysfunction in women with pelvic floor disorders lacks uniformity, which leads to uncertainty, confusion, and unintended ambiguity. The terminology for the sexual health of women with pelvic floor dysfunction needs to be collated in a clinically-based consensus report. METHODS: This report combines the input of members of the Standardization and Terminology Committees of two International Organizations, the International Urogynecological Association (IUGA), and the International Continence Society (ICS), assisted at intervals by many external referees...
March 26, 2018: International Urogynecology Journal
https://www.readbyqxmd.com/read/29575379/identification-of-ectopic-ovotestis-in-a-dog-with-xx-ovotesticular-sry-negative-disorder-of-sexual-development
#18
M Diel de Amorim, A Lerer, T Durzi, R A Foster, C J Gartley
A 1-year-old, previously spayed phenotypic female Poodle/Soft-coated Wheaten Terrier (Whoodle) cross was presented for a suspected ovarian remnant. Serum luteinizing hormone (LH) concentration was below the detection limit (<1 ng/ml Witness® LH), and serum progesterone concentration was elevated in the chemiluminescence immunoassay (CLIA; 20 ng/ml), consistent with dioestrus and presence of ovarian tissue. Transabdominal ultrasound revealed a retroperitoneal soft tissue structure suspected to be a gonad...
March 24, 2018: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/29572943/urogenital-anomalies-and-urinary-incontinence-in-an-english-cocker-spaniel-dog-with-xx-sex-reversal
#19
Hakyoung Yoon, Sung-Hee Han, Jaehwan Kim, Kihoon Kim, Kidong Eom
A 3-year-old dog weighing 8 kg was referred with a disorder of sexual development and persistent urinary incontinence before and after gonadohysterectomy performed at a local animal hospital. Histopathological examination disclosed hypoplasia of the testes, epididymis, pampiniform plexus, and uterus. On ultrasonography, an anomalous structure containing anechoic fluid was identified in the region dorsal to the urinary bladder. An anomalous communication between the proximal urethra and the remnant uterus and vagina was found on retrograde urethrography under fluoroscopy...
March 23, 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29566378/adrenal-insufficiency-sex-reversal-and-angelman-syndrome-due-to-uniparental-disomy-unmasking-a-mutation-in-cyp11a1
#20
Ahlee Kim, Masanobu Fujimoto, Vivian Hwa, Philippe Backeljauw, Andrew Dauber
BACKGROUND/AIMS: Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome. METHODS: Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing...
March 22, 2018: Hormone Research in Pædiatrics
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