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disorders of sexual differentiation

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 10, 2016: Archives of Endocrinology and Metabolism
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
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
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 about 85% of patients with clinical diagnosis complete androgen insensitivity syndrome (CAIS) and less than 30% with partial androgen insensitivity syndrome (PAIS) can be explained by inactivating mutations in the androgen receptor (AR) gene. OBJECTIVE: 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 dihydrotestosterone (DHT)-dependent transcriptional induction of the AR target gene apolipoprotein D (APOD) in cultured genital fibroblasts (GF) (APOD-assay) and next generation sequencing (NGS) of the complete coding - and non-coding AR-locus...
September 1, 2016: Journal of Clinical Endocrinology and Metabolism
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
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
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
Ariel Ketcherside, Jessica Baine, Francesca Filbey
BACKGROUND: Tetrahydrocannabinol (Δ(9)-THC), the primary ingredient in marijuana, exerts its effects across several neurological and biological systems that interact with the endocrine system. Thus, differential effects of Δ(9)-THC are likely to exist based on sex and hormone levels. METHODS: We reviewed the existing literature to determine sex-based effects of Δ(9)-THC on neural structure and functioning. RESULTS: The literature demonstrates differences in male and female marijuana users on brain structure, reward processing, attention, motor coordination, and sensitivity to withdrawal...
2016: Current Addiction Reports
Courtney E Dutton, Christal L Badour, Alyssa C Jones, Emily R Mischel, Matthew T Feldner
Affective lability, or the instability of emotional states, is associated with heightened levels of trauma-related emotional responding and posttraumatic stress disorder (PTSD) symptoms. However, the impact of affective lability, specifically on habituation to idiographic trauma cues, has yet to be examined among trauma-exposed individuals. The current study examined differential response trajectories to trauma-related imaginal exposure as a function of affective lability. Specifically, 72 women with a history of sexual victimization participated in a laboratory-based study involving a single session of repeated imaginal exposures to idiographic traumatic event cues...
October 2016: Journal of Anxiety Disorders
Karen M McCammon, Satya P Panda, Chuanwu Xia, Jung-Ja P Kim, Daniela Moutinho, Michel Kranendonk, Richard J Auchus, Eileen M Lafer, Debashis Ghosh, Pavel Martasek, Rekha Kar, Bettie Sue Masters, Linda J Roman
Human NADPH-cytochrome P450 oxidoreductase (POR) gene mutations are associated with severe skeletal deformities and disordered steroidogenesis. The human POR mutation A287P presents with disordered sexual development and skeletal malformations. Difficult recombinant expression and purification of this POR mutant suggested that the protein was less stable than WT. The activities of cytochrome P450 17A1, 19A1, and 21A2, critical in steroidogenesis, were similar using our purified, full-length, unmodified A287P or WT POR, as were those of several xenobiotic-metabolizing cytochromes P450, indicating that the A287P protein is functionally competent in vitro, despite its functionally deficient phenotypic behavior in vivo Differential scanning calorimetry and limited trypsinolysis studies revealed a relatively unstable A287P compared with WT protein, leading to the hypothesis that the syndrome observed in vivo results from altered POR protein stability...
September 23, 2016: Journal of Biological Chemistry
V Peralta, M J Cuesta
BACKGROUND: Delusional disorder (DD) is an under-researched condition and its relationship to schizophrenia (SZ) controversial. This study aimed to further characterize DD and to examine multi-domain evidence for the distinction between DD and SZ. METHOD: Using univariate analyses we examined 146 subjects with DD, 114 subjects with paranoid SZ and 244 subjects with non-paranoid SZ on 52 characteristics from several domains including demographics, risk factors, premorbid features, illness characteristics, index episode features, delusional-related features, response to treatment and outcome...
October 2016: Psychological Medicine
Antonia N Kaczkurkin, Anu Asnaani, Jody Zhong, Edna B Foa
Trauma experienced in childhood and adolescence negatively affects the development of adaptive regulation of emotions and is associated with greater symptoms of anger. Prior research has suggested that high levels of anger may impede the outcome of treatment in adults with posttraumatic stress disorder (PTSD). The current study investigated whether high levels of anger resulted in poorer treatment outcomes in adolescent girls with PTSD. Participants included 61 female adolescent survivors of sexual abuse or assault who were randomized to either prolonged exposure for adolescents (PE-A) or client-centered therapy (CCT) for traumatized children for 8-14 weekly sessions...
August 2016: Journal of Traumatic Stress
Mikhail N Koffarnus, Matthew W Johnson, Daisy G Y Thompson-Lake, Michael J Wesley, Terry Lohrenz, P Read Montague, Warren K Bickel
Cocaine users have a higher incidence of risky sexual behavior and HIV infection than nonusers. Our aim was to measure whether safer sex discount rates-a measure of the likelihood of having immediate unprotected sex versus waiting to have safer sex-differed between controls and cocaine users of varying severity. Of the 162 individuals included in the primary data analyses, 69 met the Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.; DSM-IV-TR) criteria for cocaine dependence, 29 were recreational cocaine users who did not meet the dependence criteria, and 64 were controls...
August 2016: Experimental and Clinical Psychopharmacology
Ema Conde, Telma Santos, Rita Leite, Carla Vicente, António Mesquita Figueiredo
Self-mutilation is understood as any willful gesture or alteration of the body tissue, without a suicidal intent. The commonest self-mutilating gestures are, to a great extent, those that are superficial or moderate, such as cuts, burns or bites. The most severe, as is the case of genital self-mutilation (GSM), are extremely rare and, in most cases, observed in patients suffering from psychosis. Furthermore, they are mostly reported from a surgical standpoint. Here, we report the case of a 20-year-old female patient who resorted to the emergency department (ED) after having amputated her clitoris with a surgical scissor...
July 11, 2016: Journal of Sex & Marital Therapy
Ji Hyun Lee, Kristi E Gamarel, Kendall J Bryant, Nickolas D Zaller, Don Operario
PURPOSE: Sexual minority (lesbian, gay, bisexual) populations have a higher prevalence of mental health and substance use disorders compared to their heterosexual counterparts. Such disparities have been attributed, in part, to minority stressors, including distal stressors such as discrimination. However, few studies have examined associations between discrimination, mental health, and substance use disorders by gender among sexual minority populations. METHODS: We analyzed data from 577 adult men and women who self-identified as lesbian, gay, or bisexual and participated in Wave 2 of the National Epidemiologic Survey on Alcohol and Related Conditions (NESARC)...
August 2016: LGBT Health
Chung-Ying Lin, Amir H Pakpour, Andrea Burri, Ali Montazeri
BACKGROUND: Male sexual dysfunction is an increasing problem across a variety of general and clinical populations, such as cancer populations; especially among prostate cancer patients who tend to receive treatments that often result in erectile dysfunction (ED) and/or premature ejaculation (PE). Therefore, in order to diagnose ED and PE in these populations, adequate and efficient instruments such as the International Index of Erectile Function 5-item version (IIEF-5) and the Premature Ejaculation Diagnostic Tool (PEDT) are needed...
2016: PloS One
Reinhilde J Melles, Marieke D Dewitte, Moniek M Ter Kuile, Madelon M L Peters, Peter J de Jong
INTRODUCTION: Current information processing models propose that heightened attention bias for sex-related threats (eg, pain) and lowered automatic incentive processes ("wanting") may play an important role in the impairment of sexual arousal and the development of sexual dysfunctions such as genitopelvic pain/penetration disorder (GPPPD). Differential threat and incentive processing may also help explain the stronger persistence of coital avoidance in women with vaginismus compared to women with dyspareunia...
August 2016: Journal of Sexual Medicine
Guizhen Huang, Miao Yuan, Jie Zhang, Jun Li, Di Gong, Yanyan Li, Jie Zhang, Ping Lin, Lugang Huang
Zfp637 is a recently identified zinc finger protein, and its functions remain largely unknown. Here, we innovatively demonstrate the effects of Zfp637 on the differentiation of mouse spermatogonia and on its downstream target gene SOX2 in vitro. Obesity has been recognized as a chronic inflammatory disease that leads to decreased sexual function and sexual development disorders. We observed higher levels of IL-6 in serum and testis homogenates from obese mice compared with control mice. We also demonstrated that high levels of IL-6 inhibited Zfp637 expression, and we elucidated the underlying mechanisms...
2016: Scientific Reports
Aissam Goultaiene, Khalid Elmortaji, Reda Sentissi, Amine Moataz, Redouane Rabii, Rachid Aboutaib, Mohammed Dakir, Adil Debbagh, Fethi Meziane
Disorders of sex differentiation cause a discrepancy between sex itself (phenotype) and genetic sex (genotype) which poses a problem in sex determination. In lower socioeconomic level countries where prenatal diagnosis is often absent and technical equipments are inadequate, medical and surgical management is difficult. The aim of this study is to clarify the role of laparoscopy in the management of sexual ambiguity through observation of 4 cases and review of the literature.
2016: Pan African Medical Journal
Anna Biason-Lauber
The process of sexual differentiation is central for reproduction of almost all metazoan and therefore for maintenance of practically all multicellular organisms. In sex development we can distinguish two different processes: First, sex determination is the developmental decision that directs the undifferentiated embryo into a sexually dimorphic individual. In mammals, sex determination equals gonadal development. The second process known as sex differentiation takes place once the sex determination decision has been made through factors produced by the gonads that determine the development of the phenotypic sex...
2016: Results and Problems in Cell Differentiation
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