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disorders of sexual differentiation

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https://www.readbyqxmd.com/read/28207417/adrenarche-unmasks-compound-heterozygous-3%C3%AE-hydroxysteroid-dehydrogenase-deficiency-c-244g-a-p-ala82thr-and-the-novel-931c-t-p-gln311-variant-in-a-non-salt-wasting-severely-undervirilised-46xy
#1
Stephanie Louise Teasdale, Adam Morton
3β-Hydroxysteroid dehydrogenase type II deficiency (3βHSD2) congenital adrenal hyperplasia is a rare cause of ambiguous genitalia, resulting in abnormal virilisation in both 46XY and 46XX. We describe a case of 46XY ambiguous genitalia that was misdiagnosed as androgen insensitivity syndrome. The correct diagnosis was made after adrenarche. Genotyping demonstrated compound heterozygosity in two alleles, the previously described c.244G>A (p.Ala82Thr), and a novel 931C>T(p.Gln311*) variant. We suggest that adrenarche unmasked the condition by driving cortisol production to rates that caused the mutant 3bHSD2 enzyme to become rate limiting for cortisol production...
February 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28202904/genome-wide-dna-de-methylation-is-associated-with-noninfectious-bud-failure-exhibition-in-almond-prunus-dulcis-mill-d-a-webb
#2
Jonathan Fresnedo-Ramírez, Helen M Chan, Dan E Parfitt, Carlos H Crisosto, Thomas M Gradziel
Noninfectious bud-failure (BF) remains a major threat to almond production in California, particularly with the recent rapid expansion of acreage and as more intensive cultural practices and modern cultivars are adopted. BF has been shown to be inherited in both vegetative and sexual progeny, with exhibition related to the age and propagation history of scion clonal sources. These characteristics suggest an epigenetic influence, such as the loss of juvenility mediated by DNA-(de)methylation. Various degrees of BF have been reported among cultivars as well as within sources of clonal propagation of the same cultivar...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28194504/variation-in-post-traumatic-response-the-role-of-trauma-type-in-predicting-icd-11-ptsd-and-cptsd-symptoms
#3
Philip Hyland, Jamie Murphy, Mark Shevlin, Frédérique Vallières, Eoin McElroy, Ask Elklit, Mogens Christoffersen, Marylène Cloitre
PURPOSE: The World Health Organization's 11th revision to the International Classification of Diseases manual (ICD-11) will differentiate between two stress-related disorders: PTSD and Complex PTSD (CPTSD). ICD-11 proposals suggest that trauma exposure which is prolonged and/or repeated, or consists of multiple forms, that also occurs under circumstances where escape from the trauma is difficult or impossible (e.g., childhood abuse) will confer greater risk for CPTSD as compared to PTSD...
February 14, 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/28184278/possible-sexually-dimorphic-role-of-mirna-and-other-sncrna-in-asd-brain
#4
Cynthia M Schumann, Frank R Sharp, Bradley P Ander, Boryana Stamova
BACKGROUND: Autism spectrum disorder (ASD) is sexually dimorphic in brain structure, genetics, and behaviors. In studies of brain tissue, the age of the population is clearly a factor in interpreting study outcome, yet sex is rarely considered. To begin to address this issue, we extend our previously published microarray analyses to examine expression of small noncoding RNAs (sncRNAs), including microRNAs (miRNAs), in ASD and in the control temporal cortex in males and females. Predicted miRNA targets were identified as well as the pathways they overpopulate...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28179814/prenatal-stress-immune-programming-of-sex-differences-in-comorbidity-of-depression-and-obesity-metabolic-syndrome
#5
Jill M Goldstein, Laura Holsen, Grace Huang, Bradley D Hammond, Tamarra James-Todd, Sara Cherkerzian, Taben M Hale, Robert J Handa
Major depressive disorder (MDD) is the number one cause of disability worldwide and is comorbid with many chronic diseases, including obesity/metabolic syndrome (MetS). Women have twice as much risk for MDD and comorbidity with obesity/MetS as men, although pathways for understanding this association remain unclear. On the basis of clinical and preclinical studies, we argue that prenatal maternal stress (ie, excess glucocorticoid expression and associated immune responses) that occurs during the sexual differentiation of the fetal brain has sex-dependent effects on brain development within highly sexually dimorphic regions that regulate mood, stress, metabolic function, the autonomic nervous system, and the vasculature...
December 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28179808/sex-differences-in-the-developing-brain-as-a-source-of-inherent-risk
#6
Margaret M McCarthy
Brain development diverges in males and females in response to androgen production by the fetal testis. This sexual differentiation of the brain occurs during a sensitive window and induces enduring neuroanatomical and physiological changes that profoundly impact behavior. What we know about the contribution of sex chromosomes is still emerging, highlighting the need to integrate multiple factors into understanding sex differences, including the importance of context. The cellular mechanisms are best modeled in rodents and have provided both unifying principles and surprising specifics...
December 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28152641/a-review-of-paediatric-and-adolescent-gynaecology-services-in-a-tertiary-outpatient-clinic
#7
Mugdha Kulkarni, Julie Glanville, Sally Phillot, Adam Balen
Adolescence is a distinctive stage in human development during which many simple and complex medical conditions can present for the first time. Paediatric and adolescent gynaecological conditions need careful multidisciplinary clinical management with a sensitive approach understanding the patients' psychological and physiological circumstances. The objective of this study is to review the tertiary paediatric and adolescent gynaecology service in Leeds, United Kingdom and to present an overview of the various conditions that present to such a clinic...
February 2, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28149308/normative-penile-anthropometry-in-term-newborns-in-kumasi-ghana-a-cross-sectional-prospective-study
#8
Serwah Bonsu Asafo-Agyei, Emmanuel Ameyaw, Jean-Pierre Chanoine, Samuel Blay Nguah
BACKGROUND: Genital measurements are a useful adjunct in the early detection of various endocrine conditions including hypopituitarism and disorders of sexual differentiation. Standards for genital sizes have been published but racial/ethnic differences exist. This study was done to establish norms for genital sizes in term Ghanaian male newborns. METHODS: This was a cross-sectional study of all apparently well full-term newborns of postnatal age < 48 h and birth weight between 2...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28120258/psychopathology-subgroups-and-hiv-risk-among-women-in-psychiatric-treatment
#9
Robert C McMahon, John M Abbamonte, Jessy G Dévieux
Among individuals with mental illness, the HIV infection rate is generally found to be substantially higher than in the general population. Understanding dimensions or subtypes of psychopathology linked with HIV risk behavior may enable development of targeted interventions to reduce HIV transmission. This study identified subgroups of women (n = 243) receiving outpatient psychiatric treatment based upon cluster analysis of indices of personality disorder and clinical symptom syndromes. High, medium, and low psychiatric severity cluster subgroups were found to differ significantly on key HIV risk variables...
January 24, 2017: AIDS and Behavior
https://www.readbyqxmd.com/read/28095340/body-image-in-patients-with-mental-disorders-characteristics-associations-with-diagnosis-and-treatment-outcome
#10
Mia Scheffers, Jooske T van Busschbach, Ruud J Bosscher, Liza C Aerts, Durk Wiersma, Robert A Schoevers
OBJECTIVE: Despite the increasing recognition in clinical practice of body image problems in other than appearance related mental disorders, the question remains how aspects of body image are affected in different disorders. The aim of this study was to measure body image in patients with a variety of mental disorders and to compare scores with those in the general population in order to obtain more insight in the relative disturbance of body image in the patients group compared to healthy controls...
January 10, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28087634/genome-wide-identification-of-regulatory-elements-in-sertoli-cells
#11
Danielle M Maatouk, Anirudh Natarajan, Yoichiro Shibata, Lingyun Song, Gregory E Crawford, Uwe Ohler, Blanche Capel
A current goal of molecular biology is to identify transcriptional networks regulating cell differentiation. However, identifying functional gene regulatory elements has been challenging in the context of developing tissues where material is limited and cell types are mixed. To identify regulatory sites during sex determination, we subjected Sertoli cells from mouse fetal testes to DNaseI-seq and ChIP-seq for H3K27ac. DNaseI-seq identified putative regulatory sites around Sertoli- and pregranulosa-enriched genes; however, active enhancers marked by H3K27ac were enriched proximal only to Sertoli-enriched genes...
January 13, 2017: Development
https://www.readbyqxmd.com/read/28042822/enduring-sexually-dimorphic-impact-of-in-utero-exposure-to-elevated-levels-of-glucocorticoids-on-midbrain-dopaminergic-populations
#12
REVIEW
Glenda E Gillies, Kanwar Virdee, Ilse Pienaar, Felwah Al-Zaid, Jeffrey W Dalley
Glucocorticoid hormones (GCs) released from the fetal/maternal glands during late gestation are required for normal development of mammalian organs and tissues. Accordingly, synthetic glucocorticoids have proven to be invaluable in perinatal medicine where they are widely used to accelerate fetal lung maturation when there is risk of pre-term birth and to promote infant survival. However, clinical and pre-clinical studies have demonstrated that inappropriate exposure of the developing brain to elevated levels of GCs, either as a result of clinical over-use or after stress-induced activation of the fetal/maternal adrenal cortex, is linked with significant effects on brain structure, neurological function and behaviour in later life...
December 30, 2016: Brain Sciences
https://www.readbyqxmd.com/read/28041853/stem-cells-in-male-sexual-dysfunction-are-we-getting-somewhere
#13
REVIEW
Mohammad Ayodhia Soebadi, Uros Milenkovic, Emmanuel Weyne, Fabio Castiglione, Maarten Albersen
INTRODUCTION: Stem cells for sexual disorders are steadily being introduced into clinical trials. Two conditions of importance are the main target for this line of treatment, especially when regarding the wide array of translational and basic science highlighting the potential advantages of regenerative therapy: erectile dysfunction (ED) and more recently Peyronie disease (PD). Cellular therapy offers a treatment modality that might reverse disease progression. It would be used in a curative setting, in contrast to other pharmaceutical agents that are currently available...
December 29, 2016: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/28033663/review-disorders-of-sex-development-the-evolving-role-of-genomics-in-diagnosis-and-gene-discovery
#14
REVIEW
Brittany Croft, Katie Ayers, Andrew Sinclair, Thomas Ohnesorg
Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to occur in around 1.7% of all live births (Fausto-Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality, Basic Books, New York, 2000). They are often caused by the breakdown in the complex genetic mechanisms that underlie gonadal development and differentiation. Having a genetic diagnosis can be important for patients with a DSD: it can increase acceptance of a disorder often surrounded by stigma, alter clinical management and it can assist in reproductive planning...
December 2016: Birth Defects Research. Part C, Embryo Today: Reviews
https://www.readbyqxmd.com/read/27974129/-clinical-evaluation-and-management-of-neonates-with-disorder-of-sexual-development
#15
Hui Liu, Xiao-Mei Tong
Disorder of sexual development or disorder of sex differentiation (DSD) refers to the inconsistency between karyotype and gonad phenotype and/or gonad anatomy in neonates and is manifested as the difficulty in identifying neonates' sex. According to the karyotype, DSD is classified as 46,XY DSD, 46,XX DSD, and sex chromosome DSD. A combination of detailed medical history, physical examination, and laboratory and imaging examinations is required for the diagnosis and comprehensive assessment of neonatal DSD and the determination of potential causes in clinical practice...
December 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27959334/implication-of-notch1-gene-in-susceptibility-to-anxiety-and-depression-among-sexual-abuse-victims
#16
I M Steine, T Zayats, C Stansberg, S Pallesen, J Mrdalj, B Håvik, J Soulé, J Haavik, A M Milde, S Skrede, R Murison, J Krystal, J Grønli
Sexual abuse contributes to the development of multiple forms of psychopathology, including anxiety and depression, but the extent to which genetics contributes to these disorders among sexual abuse victims remains unclear. In this translational study, we first examined gene expression in the brains of rodents exposed to different early-life conditions (long, brief or no maternal separation). Hypothesizing that genes revealing changes in expression may have relevance for psychiatric symptoms later in life, we examined possible association of those genes with symptoms of anxiety and depression in a human sample of sexual abuse victims...
December 13, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27918876/awareness-of-identity-alteration-and-diagnostic-preference-between-borderline-personality-disorder-and-dissociative-disorders
#17
Vedat Sar, Firdevs Alioğlu, Gamze Akyuz, Emre Tayakısı, Ezgi F Öğülmüş, Doğuş Sönmez
AIM: This study inquires into identity alteration among college students and its relationship to borderline personality disorder (BPD) and/or dissociative disorders (DDs). METHODS: Steinberg Identity Alteration Questionnaire (SIAQ), Childhood Trauma Questionnaire (CTQ), and self-report screening tool of the BPD section of the Structured Clinical Interview for DSM-IV (SCID-BPD) were administered to 1301 college students. Participants who fit the diagnostic criteria of BPD (n = 80) according to the clinician-administered SCID-BPD and 111 non-BPD controls were evaluated using the Structured Clinical Interview for DSM-IV DDs (SCID-D) by two psychiatrists blind to the group membership and scale scores...
December 5, 2016: Journal of Trauma & Dissociation
https://www.readbyqxmd.com/read/27914563/differential-effects-of-testosterone-and-estradiol-on-clitoral-function-an-experimental-study-in-rats
#18
Paolo Comeglio, Ilaria Cellai, Sandra Filippi, Chiara Corno, Francesca Corcetto, Annamaria Morelli, Elena Maneschi, Elisa Maseroli, Edoardo Mannucci, Massimiliano Fambrini, Mario Maggi, Linda Vignozzi
INTRODUCTION: Female sexual response is a complex phenomenon in which psychological, neurologic, and vascular mechanisms and hormonal factors interact. During the arousal phase, they cooperate to increase genital blood flow, thus inducing engorgement of the clitoris and lubrication of the vagina. Regulation of vascular and non-vascular smooth muscle tone is the crucial event in the erectile process. Preclinical studies have suggested that nitric oxide (NO) is the main vasodilator neurotransmitter modulating, through the second messenger cyclic guanosine monophosphate (cGMP), clitoral flow vessels...
December 2016: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/27900396/-persistent-mullerian-duct-syndrome-rare-incidental-finding-during-treatment-of-pediatric-inguinal-hernia
#19
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
#20
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
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