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disorders of sexual differentiation

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https://www.readbyqxmd.com/read/29771299/at-the-crossroads-of-fate-somatic-cell-lineage-specification-in-the-fetal-gonad
#1
Emmi Rotgers, Anne Jørgensen, Humphrey Hung-Chang Yao
The reproductive endocrine systems are vastly different between male and female. This sexual dimorphism of endocrine milieu originates from sex-specific differentiation of the somatic cells in the gonads during fetal life. The majority of gonadal somatic cells arise from the adrenogonadal primordium. After separation of the adrenal and gonadal primordia, the gonadal somatic cells initiate sex-specific differentiation during gonadal sex determination with the specification of the supporting cell lineages: Sertoli cells in the testis vs...
May 15, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29768628/androgen-insensitivity-syndrome-a-review
#2
Rafael Loch Batista, Elaine M Frade Costa, Andresa de Santi Rodrigues, Nathalia Lisboa Gomes, José Antonio Faria, Mirian Y Nishi, Ivo Jorge Prado Arnhold, Sorahia Domenice, Berenice Bilharinho de Mendonca
Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome...
March 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29759915/social-interaction-anxiety-and-personality-traits-predicting-engagement-in-health-risk-sexual-behaviors
#3
Ryan L Rahm-Knigge, Mark A Prince, Bradley T Conner
Individuals with social interaction anxiety, a facet of social anxiety disorder, withdraw from or avoid social encounters and generally avoid risks. However, a subset engages in health risk sexual behavior (HRSB). Because sensation seeking, emotion dysregulation, and impulsivity predict engagement in HRSB among adolescents and young adults, the present study hypothesized that latent classes of social interaction anxiety and these personality traits would differentially predict likelihood of engagement in HRSB...
May 4, 2018: Journal of Anxiety Disorders
https://www.readbyqxmd.com/read/29733759/teleology-and-defining-sex
#4
Nathan K Gamble, Michal Pruski
Disorders of sexual differentiation lead to what is often referred to as an intersex state. This state has medical, as well as some legal, recognition. Nevertheless, the question remains whether intersex persons occupy a state in between maleness and femaleness or whether they are truly men or women. To answer this question, another important conundrum needs to be first solved: what defines sex? The answer seems rather simple to most people, yet when morphology does not coincide with haplotypes, and genetics might not correlate with physiology the issue becomes more complex...
May 7, 2018: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
https://www.readbyqxmd.com/read/29710218/fertility-and-birth-outcomes-in-women-with-epilepsy-seeking-pregnancy
#5
Page B Pennell, Jacqueline A French, Cynthia L Harden, Anne Davis, Emilia Bagiella, Evie Andreopoulos, Connie Lau, Nichelle Llewellyn, Sarah Barnard, Stephanie Allien
Importance: Prior studies report lower birth rates for women with epilepsy (WWE) but have been unable to differentiate between biological and social contributions. To our knowledge, we do not have data to inform WWE seeking pregnancy if their likelihood of achieving pregnancy is biologically reduced compared with their peers. Objective: To determine if WWE without a prior diagnosis of infertility or related disorders are as likely to achieve pregnancy within 12 months as their peers without epilepsy...
April 30, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29702176/bipolar-affective-disorder-and-borderline-personality-disorder-differentiation-based-on-the-history-of-early-life-stress-and-psychoneuroendocrine-measures
#6
Angela Kaline Mazer, Anthony J Cleare, Allan H Young, Mario F Juruena
INTRODUCTION: Borderline Personality Disorder (BPD) and Bipolar Affective Disorder (BD) have clinical characteristics in common which often make their differential diagnosis difficult. The history of early life stress (ELS) may be a differentiating factor between BPD and BD, as well as its association with clinical manifestations and specific neuroendocrine responses in each of these diagnoses. OBJECTIVE: Assessing and comparing patients with BD and BPD for factors related to symptomatology, etiopathogenesis and neuroendocrine markers...
April 24, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29692525/hernia-uteri-inguinalis-in-ovotesticular-disorder-of-sexual-differentiation-a-rare-complication-and-role-of-imaging
#7
Janardhana Ponnatapura
Neonate with ambiguous genitalia can cause great apprehension for the family as well as for healthcare providers. We report a rare complication of delayed diagnosis of hernia uteri inguinalis in ovotesticular disorder of sexual differentiation (DSD) in 20-year-old male patient who presented with pain and swelling in left inguinal region since 1 month. He had a past surgical history of repair of hypospadias 10 years back. On imaging, the left inguinal hernia sac contained nonfunctioning uterus and one ovary in the left scrotal sac and one testis in the right scrotal sac...
January 2018: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29673731/duplication-of-sox9-associated-with-46-xx-ovotesticular-disorder-of-sex-development
#8
Berenice López-Hernández, Juan Pablo Méndez, Ramón Mauricio Coral-Vázquez, Jesús Benítez-Granados, Juan Carlos Zenteno, Vanessa Villegas-Ruiz, Raúl Calzada-León, Daniela Soderlund, Patricia Canto
RESEARCH QUESTION: The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease. DESIGN: Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were molecularly studied. Multiplex-ligation dependent probe amplification (MLPA) and quantitative real-time PCR analysis (qRT-PCR) for SOX9 were performed...
April 4, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29661835/sexual-differentiation-of-contextual-fear-responses
#9
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/29600277/malign-differentiation-of-a-large-buschke-loewenstein-tumor-in-penis
#10
Osman Akdag, Gokce Yildiran
Buschke-Loewenstein tumor (BLT) is a giant condyloma acuminatum which is very rare and commonly affects the anogenital region. The malignant transformation and localization in penis is very rare. This article aims to present a case with BLT with malignant transformation in penis. A 59-year-old male patient was referred, who has have been suffering from a cauliflower-like lesion in the penis for 8 years. Biopsies revealed a BLT with malignant transformation. The lesion was excised largely and reconstructed with local flaps and skin grafts...
April 2018: Surgery Journal
https://www.readbyqxmd.com/read/29582157/next-generation-sequencing-reveals-genetic-landscape-in-46-xy-disorders-of-sexual-development-patients-with-variable-phenotypes
#11
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/29576442/effect-size-in-efficacy-trials-of-women-with-decreased-sexual-desire
#12
REVIEW
Robert E Pyke, Anita H Clayton
BACKGROUND: Regarding hypoactive sexual desire disorder (HSDD) in women, some reviewers judge the effect size small for medications vs placebo, but substantial for cognitive behavior therapy (CBT) or mindfulness meditation training (MMT) vs wait list. However, we lack comparisons of the effect sizes for the active intervention itself, for the control treatment, and for the differential between the two. AIM: For efficacy trials of HSDD in women, compare effect sizes for medications (testosterone/testosterone transdermal system, flibanserin, and bremelanotide) and placebo vs effect sizes for psychotherapy and wait-list control...
March 22, 2018: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/29541439/network-specific-sex-differentiation-of-intrinsic-brain-function-in-males-with-autism
#13
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
https://www.readbyqxmd.com/read/29525066/-diffuse-hypertrichosis-revealing-non-classical-congenital-adrenal-hyperplasia
#14
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...
April 2018: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29486222/naltrexone-alters-alcohol-self-administration-behaviors-and-hypothalamic-pituitary-adrenal-axis-activity-in-a-sex-dependent-manner-in-rats
#15
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...
April 2018: Pharmacology, Biochemistry, and Behavior
https://www.readbyqxmd.com/read/29463315/x-chromosome-dosage-and-presence-of-sry-shape-sex-specific-differences-in-dna-methylation-at-an-autosomal-region-in-human-cells
#16
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
https://www.readbyqxmd.com/read/29396282/male-orgasmic-dysfunction-post-radical-pelvic-surgery
#17
REVIEW
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
https://www.readbyqxmd.com/read/29377849/icd-11-prevalence-rates-of-posttraumatic-stress-disorder-and-complex-posttraumatic-stress-disorder-in-a-german-nationwide-sample
#18
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...
April 2018: Journal of Nervous and Mental Disease
https://www.readbyqxmd.com/read/29358304/the-amh-genotype-rs10407022-t-g-is-associated-with-circulating-amh-levels-in-boys-but-not-in-girls
#19
Iben Katinka Greiber, Casper P Hagen, Alexander Siegfried Busch, Mikkel Grunnet Mieritz, Lise Aksglæde, Katharina 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) ( AMH rs10407022 T>G and AMHR2 rs11170547 C>T) on circulating reproductive hormone levels and pubertal onset in boys and girls...
February 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29332494/an-evaluation-of-adolescent-and-young-adult-re-victimization-experiences-problematic-substance-use-and-negative-consequences
#20
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...
April 2018: Violence Against Women
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