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Disorder of sex development

Amanda C Kentner, Urma Khan, M MacRae, Scot E Dowd, Siyang Yan
Epidemiological evidence suggests that exposure to infection during early development increases the risk for neurodevelopmental disorders associated with symptoms such as a decreased desire to engage in social interactions. This disruption in social behavior can be modelled in animals by administering bacterial mimetics such as liposaccharide (LPS). However, when evaluating social interactions in the laboratory, attention is rarely directed on the reciprocal relationship as a whole, which is important as peers may drive social withdrawal...
June 13, 2018: Physiology & Behavior
Roberto Frau, Marco Bortolato
Steroids exert a profound influence on behavioral reactivity, by modulating the functions of most neurotransmitters and shaping the impact of stress and sex-related variables on neural processes. This background - as well as the observation that most neuroactive steroids (including sex hormones, glucocorticoids and neurosteroids) are synthetized and metabolized by overlapping enzymatic machineries - points to steroidogenic pathways as a powerful source of targets for neuropsychiatric disorders. Inhibitors of steroidogenic enzymes have been developed and approved for a broad range of genitourinary and endocrine dysfunctions, opening to new opportunities to repurpose these drugs for the treatment of mental problems...
May 11, 2018: Neuropharmacology
Melissa L Engel, Dominika A Winiarski, Brooke L Reidy, Patricia A Brennan
OBJECTIVE: Somatic complaints, often associated with concurrent and future internalizing symptoms and disorders in adult samples, were examined longitudinally from preschool to school age in a sample of children at an increased familial risk for psychopathology. The behavioral correlates and sex differences of somatic complaints and the persistence of these complaints across early childhood were examined. METHOD: A longitudinal sample of 185 mothers completed a laboratory visit when children were preschool aged and an online follow-up when children were school aged...
June 13, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
Donatella Tramontano, Francesca De Amicis
A successful aging could be gained by life satisfaction, social functioning, or psychological resources and, definitely, by increasing resistance to diverse age-related pathologies. Nowadays, cancer can be considered an age-related disease since the incidence of most cancers increases with age, rising more rapidly beginning in midlife. Although adults with extended longevity are less likely to develop cancer, it is now emerging that aging and cancer share common molecular links, and thus targeting these mechanisms may be suitable to treat multiple disorders, for the prolonging of healthy aging...
June 15, 2018: Journal of Cellular Physiology
David A Diamond, Jonathan Swartz, Amy Tishelman, Judith Johnson, Yee-Ming Chan
INTRODUCTION: A central ethical dilemma in management of the patient with a disorder of sex development (DSD) is the potential conflict between respect for the fundamental right of the child for physical and emotional integrity and self-determination, and the right of parents to serve as surrogate decision-makers and act in their child's best interest. METHODS: Over the past 2 years we have encountered three complex DSD cases on the spectrum of mixed gonadal dysgenesis to ovotesticular DSD in which gender assignment and therefore optimal surgical management was uncertain...
June 1, 2018: Journal of Pediatric Urology
Lisa De Lorenzi, Silvana Arrighi, Elena Rossi, Pierangela Grignani, Carlo Previderè, Stefania Bonacina, Fausto Cremonesi, Pietro Parma
In mammals, the sex of the embryo depends on the SRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine the male phenotype. When this factor is not present, i.e., in subjects with 2 X chromosomes, an alternative pathway induces the development of ovaries, hence a female phenotype. In this case study, we describe a female cattle affected by a disorder of sex development (DSD). The subject, despite having a chromosomal XY constitution, did not develop testicles but ovaries, although they were underdeveloped...
June 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Jagriti Jackie Bhattarai, Mary E Oehlert, Karen D Multon, Scott W Sumerall
OBJECTIVE: The aim of this study was to examine major depressive disorder (MDD) and posttraumatic stress disorder (PTSD) diagnosed at age < 55 as predictors, and sex and race as potential moderators, of dementia and other forms of cognitive impairment. METHOD: Veterans ( N = 4,800) aged ⩾ 56 years were grouped by psychiatric history, sex, and race. Hierarchical and stepwise regression were employed to determine significant predictors. RESULTS: MDD and PTSD were associated with almost double the risk for developing dementia or cognitive impairment at age ⩾ 56...
June 1, 2018: Journal of Aging and Health
Jessye Wojtusik, Terri L Roth
  Iron overload disorder (IOD) can lead to organ dysfunction and may exacerbate other diseases in the critically endangered black rhinoceros ( Diceros bicornis). It is important to develop methods for monitoring the progression of iron storage (hemosiderosis), diagnosing the disease, and evaluating treatments in this species. Traditionally, an equine enzyme immunoassay (EIA) was used to measure rhinoceros ferritin, a serum protein correlated to iron stores. The goal of this study was to validate a rhinoceros-specific assay and investigate factors potentially associated with ferritin concentrations in black rhinoceros...
June 2018: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
T Yamauchi, T Sasaki, T Yoshikawa, S Matsumoto, M Takahashi
Background: Mental disorders and suicide resulting from overwork or work-related stress have become major occupational health issues worldwide, particularly in Asian countries. However, no studies have reported incidence rates of mental disorders and suicide by sex, age group and industry, using a national database containing all cases involving compensation in Asian countries. Aims: The present study examined incidence rates of occupational mental disorders and suicide by sex, age group and industry using a database containing all cases involving compensation for mental disorders and suicide in Japan over a 5-year period...
June 12, 2018: Occupational Medicine
Yixin Zhang, Cong Du, Wei Wang, Wen Chen, Ping Shao, Chongdan Wang, Junhong Leng, Jun Shen, Long Tan, Wanqi Zhang
OBJECTIVE: Neonatal TSH screening is effective in detecting congenital hypothyroidism and estimating iodine status in a given population, but various factors influence TSH levels. The aim of this study was to evaluate the effect of maternal and neonatal factors on neonatal TSH levels. DESIGN AND SETTING: Data were obtained from an ongoing prospective cohort study. A total of 988 pregnant women and their newborn infants participated in the study from April 2015 to May 2017 at Tianjin Maternal and Child Health Center and Tanggu Maternity Hospital in Tianjin, China...
September 2018: Journal of Trace Elements in Medicine and Biology
Núria Camats, Mónica Fernández-Cancio, Laura Audí, André Schaller, Christa E Flück
SF-1/NR5A1 is a transcriptional regulator of adrenal and gonadal development. NR5A1 disease-causing variants cause disorders of sex development (DSD) and adrenal failure, but most affected individuals show a broad DSD/reproductive phenotype only. Most NR5A1 variants show in vitro pathogenic effects, but not when tested in heterozygote state together with wild-type NR5A1 as usually seen in patients. Thus, the genotype-phenotype correlation for NR5A1 variants remains an unsolved question. We analyzed heterozygous 46,XY SF-1/NR5A1 patients by whole exome sequencing and used an algorithm for data analysis based on selected project-specific DSD- and SF-1-related genes...
June 11, 2018: European Journal of Human Genetics: EJHG
Marc Saez, Maria A Barceló, Mònica Farrerons, Guillem López-Casasnovas
BACKGROUND: A number of factors contribute to attention deficit hyperactivity disorder (ADHD) and although they are not fully known, the occurrence of ADHD seems to be a consequence of an interaction between multiple genetic and environmental factors. However, apart from pesticides, the evidence is inadequate and inconsistent as it differs not only in the population and time period analysed, but also in the type of study, the control of the confounding variables and the statistical methods used...
June 8, 2018: Environmental Research
Natalie V Miller, Kathryn A Degnan, Amie A Hane, Nathan A Fox, Andrea Chronis-Tuscano
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder with origins early in life. There is growing evidence that individual differences in temperament reactivity are predictive of ADHD symptoms, yet little is known about the relations between temperament reactivity in early infancy and later ADHD symptoms or the combined effect of reactivity with early environmental factors on ADHD symptom development. Using a 9-year prospective longitudinal design, this study tested the independent and interactive contributions of infant reactivity and maternal caregiving behaviors (MCB) on parent- and teacher-reported childhood ADHD symptoms...
June 11, 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
Anne Marije Kaag, Reinout W Wiers, Taco de Vries, Tommy Pattij, Anna E Goudriaan
Despite apparent sex differences in the development and treatment of alcohol use disorder, relatively little is known about the underlying neural mechanisms. In this study we therefore investigated neural cue-reactivity in a sample of male (n=28) and female (n=27) problem drinkers (matched on age and alcohol use severity) with an average alcohol use disorder identification test score of 12 which is indicative of a likely alcohol use disorder. Neural cue-reactivity data were extracted from four regions of interest: the ventral and dorsal striatum and the ventral and dorsal anterior cingulate cortex, with a significance level set at p<0...
June 11, 2018: European Journal of Neuroscience
Yan Yan, Sky Dominguez, Daniel W Fisher, Hongxin Dong
Clinical studies indicate that Alzheimer's disease (AD) disproportionately affects women in both disease prevalence and severity, but the mechanisms underlying this sex divergence are unknown. Though some have suggested this difference in risk is a reflection of known differences in longevity between men and women, mounting clinical and preclinical evidence supports women also having intrinsic susceptibilities towards the disease. While a number of potential risk factors have been hypothesized to affect these differences in risks, none have been definitively verified...
February 2018: Neurobiology of Stress
Tzu-Wen L Cross, Kazuyuki Kasahara, Federico E Rey
BACKGROUND: Sex is one of the most powerful modifiers of disease development. Clear sexual dimorphism exists in cardiometabolic health susceptibility, likely due to differences in sex steroid hormones. Changes in the gut microbiome have been linked with the development of obesity, type 2 diabetes, and atherosclerosis; however, the impact of microbes in sex-biased cardiometabolic disorders remains unclear. The gut microbiome is critical for maintaining a normal estrous cycle, testosterone levels, and reproductive function...
May 30, 2018: Molecular Metabolism
Erkut Ilaslan, Pierre Calvel, Dominika Nowak, Maria Szarras-Czapnik, Jolanta Slowikowska-Hilczer, Anna Spik, Pauline Sararols, Serge Nef, Jadwiga Jaruzelska, Kamila Kusz-Zamelczyk
Identification of novel genes involved in sexual development is crucial for understanding disorders of sex development (DSD). Here, we propose a member of the START domain family, the X chromosome STARD8, as a DSD candidate gene. We have identified a missense mutation of this gene in 2 sisters with 46,XY gonadal dysgenesis, inherited from their heterozygous mother. Gonadal tissue of one of the sisters contained Leydig cells overloaded with cholesterol droplets, i.e., structures previously identified in 46,XY DSD patients carrying mutations in the STAR gene encoding another START domain family member, which is crucial for steroidogenesis...
June 8, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Clare J Wilhelm, Joel G Hashimoto, Melissa L Roberts, Xiaolu Zhang, Calla M Goeke, Shelley H Bloom, Marina Guizzetti
In utero alcohol exposure can cause fetal alcohol spectrum disorders (FASD), characterized by structural brain abnormalities and long-lasting behavioral and cognitive dysfunction. Neuronal plasticity is affected by in utero alcohol exposure and can be modulated by extracellular proteolysis. Plasmin is a major extracellular serine-protease whose activation is tightly regulated by the plasminogen activator (PA) system. In the present study we explored the effect of ethanol on the expression of the main components of the brain PA system in sex-specific cortical astrocyte primary cultures in vitro and in the cortex and hippocampus of post-natal day (PD) 9 male and female rats...
June 6, 2018: Neuropharmacology
Thomas Datzmann, Iana Markevych, Freya Trautmann, Joachim Heinrich, Jochen Schmitt, Falko Tesch
BACKGROUND: There are a few epidemiological studies that (1) link increased ambient air pollution (AP) with an increase in lung cancer incidence rates and (2) investigate whether residing in green spaces could be protective against cancer. However, it is completely unclear whether other forms of cancer are also affected by AP and if residential green spaces could lower cancer incidence rates in general. Therefore, the objective was to estimate whether AP and green space are associated with several cancer types...
June 8, 2018: BMC Public Health
Ana P Santos-Silva, Egberto Gaspar de Moura, Cintia R Pinheiro, Elaine Oliveira, Patricia Cristina Lisboa
Neonates can be exposed to bisphenol A (BPA) through placenta and milk, and BPA is associated with disorders such as precocious puberty and obesity. We evaluated the effects of BPA exposure during breastfeeding on the biochemical and endocrine profiles in young and adult rat progeny. From postnatal day (PND) 3 to 15 dams were divided into low-dose BPA treatment [50 μg/kg/day s.c. (BPA-LD)], high-dose BPA treatment [5 mg/kg/day s.c. (BPA-HD)], and Control (vehicle) groups. Milk was collected at PND15 and 21, which represents the end of exposure and 6 days after withdrawal, respectively...
June 2018: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
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