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disorders of sexual differentiation

Dorothea L Floris, Meng-Chuan Lai, Tanmay Nath, Michael P Milham, Adriana Di Martino
Background: The male predominance in the prevalence of autism spectrum disorder (ASD) has motivated research on sex differentiation in ASD. Multiple sources of evidence have suggested a neurophenotypic convergence of ASD-related characteristics and typical sex differences. Two existing, albeit competing, models provide predictions on such neurophenotypic convergence. These two models are testable with neuroimaging. Specifically, the Extreme Male Brain (EMB) model predicts that ASD is associated with enhanced brain maleness in both males and females with ASD (i...
2018: Molecular Autism
C Berthin, P Sibilia, J Martins-Hericher, A Donzeau, L Martin
BACKGROUND: Non-classical congenital adrenal hyperplasia (NC-CAH) is a recessive autosomal disease caused by a deficiency of adrenal steroidogenesis enzymes. It must be distinguished from classical CAH, either simple virilising or salt-wasting, diagnosed during the neonatal period and responsible for potentially lethal disorders of sexual differentiation. NC-CAH presents a simpler and less specific clinical picture. Herein, we present two cases comprising twin girls consulting for diffuse hypertrichosis...
March 7, 2018: Annales de Dermatologie et de Vénéréologie
Steven J Nieto, Cana B Quave, Therese A Kosten
BACKGROUND: The mu-opioid antagonist, naltrexone (NTX), is a FDA-approved treatment for alcohol use disorder (AUD); however, the data on whether it differentially affects males vs. females are mixed. NTX increases hypothalamic-pituitary-adrenal (HPA) axis activity that associates with subjective responses to alcohol and craving in individuals with AUD. The present study tested for sex differences in the ability of NTX to decrease appetitive and consummatory behaviors in rats in operant alcohol self-administration...
February 24, 2018: Pharmacology, Biochemistry, and Behavior
Bianca Ho, Keelin Greenlaw, Abeer Al Tuwaijri, Sanny Moussette, Francisco Martínez, Elisa Giorgio, Alfredo Brusco, Giovanni Battista Ferrero, Natália D Linhares, Eugênia R Valadares, Marta Svartman, Vera M Kalscheuer, Germán Rodríguez Criado, Catherine Laprise, Celia M T Greenwood, Anna K Naumova
BACKGROUND: Sexual dimorphism in DNA methylation levels is a recurrent epigenetic feature in different human cell types and has been implicated in predisposition to disease, such as psychiatric and autoimmune disorders. To elucidate the genetic origins of sex-specific DNA methylation, we examined DNA methylation levels in fibroblast cell lines and blood cells from individuals with different combinations of sex chromosome complements and sex phenotypes focusing on a single autosomal region--the differentially methylated region (DMR) in the promoter of the zona pellucida binding protein 2 (ZPBP2) as a reporter...
February 20, 2018: Biology of Sex Differences
Nora M Haney, Laith M Alzweri, Wayne J G Hellstrom
BACKGROUND: Pelvic surgeries are recognized to cause dysfunction of the male sexual response, which consists of erection, emission, expulsion, and orgasm. However, the least attention has been paid to male orgasmic dysfunction after invasive pelvic surgery. AIM: To describe the available literature on post-pelvic surgery orgasmic dysfunction disorders. METHODS: A literature search was performed on PubMed using the search strings related to dysfunction of the male sexual cycle and orgasm after pelvic surgery...
January 25, 2018: Sexual Medicine Reviews
Andreas Maercker, Tobias Hecker, Mareike Augsburger, Sören Kliem
Prevalence rates are still lacking for posttraumatic stress disorder (PTSD) and complex PTSD (CPTSD) diagnoses based on the new ICD-11 criteria. In a nationwide representative German sample (N = 2524; 14-99 years), exposure to traumatic events and symptoms of PTSD or CPTSD were assessed with the International Trauma Questionnaire. A clinical variant of CPTSD with a lower threshold for core PTSD symptoms was also calculated, in addition to conditional prevalence rates dependent on trauma type and differential predictors...
January 27, 2018: Journal of Nervous and Mental Disease
Iben Katinka Greiber, Casper P Hagen, Alexander Siegfried Busch, Mikkel G Mieritz, Lise Aksglaede, Katharina M Main, Kristian Almstrup, Anders Juul
OBJECTIVE: Fetal Anti-Müllerian hormone (AMH) is responsible for normal male sexual differentiation and circulating AMH is used as a marker of testicular tissue in newborns with Disorders of Sex Development. Little is known about the mechanism of action in postnatal life. A recent genome wide association study (GWAS) reported genetic variation of AMH affecting AMH levels in young men. This study investigated the effect of genetic variation of AMH and AMH type II receptor(AMHR2) (AMHrs10407022 T>G and AMHR2rs11170547 C>T) on circulating reproductive hormone levels and pubertal onset in boys and girls...
January 22, 2018: Endocrine Connections
D J Angelone, Tiffany Marcantonio, Jessica Melillo
We investigated substance use and negative consequences in women who experienced an initial sexual assault (SA) in high school and subsequently in college. More than 650 participants completed questionnaires assessing substance use/consequences, SA history, and posttraumatic stress disorder (PTSD) symptomology. Revictimized women reported differential substance use/consequences relative to controls underscoring the need to conceptualize adolescence as a key developmental period with a unique pathway to a subsequent SA, especially in association with substance use...
June 1, 2017: Violence Against Women
Teniel Sonya Ramikie, Kerry James Ressler
Following sexual maturity, females disproportionately have higher rates of posttraumatic stress disorder (PTSD) and experience greater symptom severity and chronicity as compared with males. This observation has led many to examine sex differences in PTSD risk factors. Though relatively few, these studies reveal that the root causes of PTSD sex differences are complex, and partly represent interactions between sex-specific nonbiological and biological risk factors, which differentially shape PTSD vulnerability...
November 21, 2017: Biological Psychiatry
Sandra Markmann, Bishnu P De, Jasmine Reid, Clarisse Jose, Jonathan B Rosenberg, Philip Leopold, Stephen M Kaminsky, Dolan Sondhi, Odelya E Pagovich, Ronald G Crystal
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder occurring in 1:10,000-1:20,000 live births. In >95% of the cases, CAH results from mutations in the CYP21A2 gene, encoding the adrenal steroid enzyme 21-hydroxylase (21OH). Cardinal phenotypic features of CAH include genital ambiguity and sexual precocity, and in severe cases, neonatal salt loss and death. Current standard of care consists of life-long oral steroid replacement to reverse the cortisol deficiency. Although significant advances in the treatment of CAH have been made, the burden of a life-long therapeutic intervention is not ideal for quality of life...
January 9, 2018: Human Gene Therapy
Yufei Xu, Yulin Chen, Niu Li, Xuyun Hu, Guoqiang Li, Yu Ding, Juan Li, Yiping Shen, Xiumin Wang, Jian Wang
BACKGROUND: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicity. This study aimed to analyze the clinical presentation and diagnosis as well as highlight the molecular characteristics of a subject with LCH type 1. CASE PRESENTATION: Clinical data were collected from the subject and analyzed...
January 6, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Anat Ben-Porat
The study examined patterns of utilization of various services among female victims of domestic violence in Israel. The study looked at how cultural background, characteristics of violence, attempts at separation from partner, and women's emotional distress contributed to patterns of service utilization. The sample of participants included 499 women who arrived at 12 shelters in Israel. Of those participants, 142 were Jewish, 156 were Arab, 125 had been born in the former Soviet Union (FSU), and 76 had been born in Ethiopia...
May 1, 2017: Journal of Interpersonal Violence
Zoya Marinova, Andreas Maercker, Edna Grünblatt, Tomasz K Wojdacz, Susanne Walitza
OBJECTIVE: Complex posttraumatic stress disorder (CPTSD) is a newly proposed diagnosis in the International Classification of Diseases-version 11, which is currently intensively investigated. Childhood trauma is regarded as main source of CPTSD symptoms, even in later life. Induction of DNA methylation changes by childhood trauma may contribute to its long-lasting adverse health consequences. The current study analyzed the correlation of genome-wide DNA methylation profiles with complex posttraumatic sequelae in buccal epithelial cells from 31 elderly former indentured child laborers (Verdingkinder) using the Infinium Illumina 450k Human DNA methylation chip...
December 19, 2017: BMC Research Notes
Laura Dellazizzo, Jules R Dugré, Marieke Berwald, Marie-Christine Stafford, Gilles Côté, Stéphane Potvin, Alexandre Dumais
High rates of violence are found amid offenders with severe mental illnesses (SMI), substance use disorders (SUDs) and Cluster B personality disorders. Elevated rates of comorbidity lead to inconsistencies when it comes to this relationship. Furthermore, overlapping Cluster B personality traits have been associated with violence. Using multiple correspondence analysis and cluster analysis, this study was designed to differentiate profiles of 728 male inmates from penitentiary and psychiatric settings marked by personality traits, SMI and SUDs following different violent patterns...
December 6, 2017: Psychiatry Research
Nan Zhang, Jie Cao, Meng Zhao, Li Sun
RATIONALE: Systemic lupus erythematosus (SLE) is an autoimmune inflammatory connective tissue disorder. It may cause neurologic damage which is mainly characterized by central and mental system, while peripheral sexual damage is relatively rare in which Guillain-Barré Syndrome (GBS) as the first performance is more rare . GBS is an autoimmune peripheral neuropathy usually triggered by an antecedent bacterial or viral infection, with SLE being a rare cause. PATIENT CONCERNS: A 65-year-old male presented to the hospital with progressive numbness and adynamia in extremities...
December 2017: Medicine (Baltimore)
Hai-Ming Yang, Xian-Jie Meng, Wei Wu, Ying-Lu Liu, Xiao-Juan Zhai
To analyze the interdependent relationship between serum bone metabolic markers and traditional Chinese medicine (TCM) syndromes in patients with chronic kidney disease (stages 3 and 4)-related mineral and bone disorder (CKD-MBD), in order to provide the objective basis for exploring the rules of TCM syndrome differentiation in patients with CKD-MBD. The retrospective survey was conducted to collect 105 cases with CKD (stages 3 and 4)-MBD. General clinical indexes, frequency of TCM syndromes and distribution of TCM syndrome type were investigated...
October 2017: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
Yuliya I Kuras, Naomi Assaf, Myriam V Thoma, Danielle Gianferante, Luke Hanlin, Xuejie Chen, Alexander Fiksdal, Nicolas Rohleder
Childhood adversity, such as neglect, or physical, emotional, or sexual abuse, is prevalent in the U.S. and worldwide, and connected to an elevated incidence of disease in adulthood. A pathway in this relationship might be altered hypothalamic-pituitary-adrenal (HPA) axis functioning, as a result of differential hippocampal development in early life. A blunted diurnal cortisol slope is a precursor for many disorders. While studies have focused on HPA reactivity in relation to childhood adversity, there has been markedly less research on basal HPA functioning in those with low-to-moderate adversity...
2017: Frontiers in Human Neuroscience
Muraly Puttabyatappa, Vasantha Padmanabhan
Insulin resistance, a common feature of metabolic disorders such as obesity, nonalcoholic fatty liver disease, metabolic syndrome, and polycystic ovary syndrome, is a risk factor for development of diabetes. Because sex hormones orchestrate the establishment of sex-specific behavioral, reproductive, and metabolic differences, a role for them in the developmental origin of insulin resistance is also to be expected. Female sheep exposed to male levels of testosterone during fetal life serve as an excellent translational model for delineating programming of insulin resistance...
2017: Advances in Experimental Medicine and Biology
Gizem Ürel Demir, Özlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Koray Boduroğlu, Safak Gucer, Mehmet Alikaşifoğlu
INTRODUCTION: Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. CASE REPORT: Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD...
December 2017: Fetal and Pediatric Pathology
Metin Eser, Akif Ayaz
BACKGROUND: Ovotesticular disorder is characterized by the presence of testicular tissue and ovarian tissue in the same individual. Single gen mutations such as SRY, SOX9, DMRT1 and DAX1 can lead to ovotesticular disorder of sexual development. CASE REPORT: Herein, we reported a 3 month-old phenotypically female detected tissues differentiated both Mullerian duct and Wolffian ducts on pathological analysis of laparoscopic biopsy material. In our case observed 46,XY,der(9)t(3;9)(p25;p24) on chromosomal analysis were detected deletion of 9p24...
December 8, 2017: Balkan Medical Journal
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