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Disorders of sexual development

Jana K Denkinger, Petra Windthorst, Caroline Rometsch-Ogioun El Sount, Michael Blume, Hes Sedik, Jan I Kizilhan, Niamh Gibbons, Phuong Pham, Jennifer Hillebrecht, Nora Ateia, Christoph Nikendei, Stephan Zipfel, Florian Junne
Introduction: Refugees fleeing persecution, torture, or sexual violence are at high risk of developing both acute and chronic psychological disorders. Systematic violence, as committed against the Yazidi minority in Northern Iraq by the terror organization known as the Islamic State (IS), can be seen as a particularly traumatic burden to the victims, but also to caregivers providing treatments and assistance to them. The intense exposure to traumatic content may cause secondary traumatization in respective caregivers...
2018: Frontiers in Psychiatry
Włodzimierz Opoka, Joanna Piotrowska, Adam Krakowski, Agata Kryczyk, Kinga Sałat, Małgorzata Zygmunt, Tadeusz Librowski, Bożena Muszyńska
BACKGROUND: Zinc (Zn) is a micronutrient and essential element of life and its deficiency causes severe disorders of numerous body systems, such as immune, reproductive and central nervous system. Zinc supplementation affects wound healing and sexual development. The interactions between drugs administration and Zn level in tissues are not fully understood. The aim of the study was to demonstrate differences in Zn content in teeth of laboratory animals that have undergone pharmacological tests...
February 5, 2018: Pharmacological Reports: PR
Tlalit Dori Frenkel, Yael Latzer, Rachel Lev-Wiesel
BACKGROUND: We investigated the correlation between eating-related pathology and the Superwoman ideal among ultra-Orthodox (Haredi) and National-Religious women in Israel using self-figure drawings and related narratives. METHOD: A sample of 55 women filled out self-report eating attitudes questionnaire (EAT-26), the Superwoman Ideal questionnaire, and a self-drawing followed by a narrative. RESULTS: No significant difference in eating pathology was found between the ultra-Orthodox and NationalReligious women...
2018: Israel Journal of Psychiatry and related Sciences
Gro Killi Haugstad, Unni Kirste, Siv Leganger, Elin Haakonsen, Tor S Haugstad
Historic background and development of our somatocognitive approach Mensendieck physiotherapy of the Oslo School is a tradition of physiotherapy founded by the American physician Bess Mensendieck, a contemporary and fellow student of Sigmund Freud at the Paris School of Neurology. It builds on the principles of functional anatomy and the theories of motor learning. We have further developed the theory and practice from this physiotherapy tradition, challenged by the enormous load of patients with longstanding, incapacitating pain on western health care systems, by seeking to incorporate inspirational ideas from body oriented dynamic psychotherapy and cognitive psychotherapy...
December 29, 2017: Scandinavian Journal of Pain
Mateusz Gola, Marc N Potenza
The letter by Kraus et al. (2018) published recently in World Psychiatry presents diagnostic criteria for compulsive sexual behaviors (CSBs). Here, we discuss the potential impact of including CSB disorder in ICD-11 for four areas: educational efforts related to CSB (for both clinicians and patients), investigation of underlying mechanisms and subtypes, development of personalized treatment frameworks, and answering socially important questions and advancing important prevention efforts and effective policies...
June 13, 2018: Journal of Behavioral Addictions
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
Walter Miller
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders of adrenal steroidogenesis that impair cortisol synthesis, with compensatory increases in ACTH leading to hyperplastic adrenals. The term 'CAH' is generally used to mean 'steroid 21-hydroxylase deficiency' (21OHD) as 21OHD accounts for about 95% of CAH in most populations; the incidences of the rare forms of CAH vary with ethnicity and geography. These forms of CAH are easily understood on the basis of the biochemistry of steroidogenesis. Defects in the steroidogenic acute regulatory protein, StAR, disrupt all steroidogenesis and are the second-most common form of CAH in Japan and Korea; very rare defects in the cholesterol side-chain cleavage enzyme, P450scc, are clinically indistinguishable from StAR defects...
June 7, 2018: European Journal of Endocrinology
Mario Lima, Michela Maffi, Niel Di Salvo, Giovanni Ruggeri, Michele Libri, Tommaso Gargano, Hubert Lardy
Persistent Müllerian duct syndrome is a disorder of sexual development, which features a failure of involution of Müllerian structures. An enlarged prostatic utricle is a kind of Müllerian duct remnant (MDR) with a tubular shaped structure communicating with the prostatic urethra. Treatment is aimed at relieving symptoms when present, preserve fertility and prevent neoplastic degeneration. We describe 3 cases of successful robot assisted-removal of symptomatic MDRs. The first case came to our attention for pseudo-incontinence; the other two for recurrent urinary tract infections...
May 30, 2018: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
Kavitha Ganesan, Yacob Habboush, Senan Sultan
Female hypoactive sexual desire disorder (HSDD) is a multifactorial sexual dysfunction disorder characterized by a decrease in sexual desire and personal distress. HSDD occurs in naturally occurring postmenopausal women or secondary to oophorectomy. Multiple studies have assessed the use of transdermal testosterone (TDT) as a management option for patients with HSDD. Our aim is to assess published studies using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) framework for the quality of evidence regarding testosterone use as a short- and long-term therapy for HSDD...
March 31, 2018: Curēus
Tiago J Costa, Graziela S Ceravolo, Cinthya Echem, Carolina M Hashimoto, Beatriz P Costa, Rosangela A Santos-Eichler, Maria Aparecida Oliveira, Francesc Jiménez-Altayó, Eliana H Akamine, Ana Paula Dantas, Maria Helena C Carvalho
Postmenopausal period has been associated to different symptoms such as hot flashes, vulvovaginal atrophy, hypoactive sexual desire disorder (HSDD) and others. Clinical studies have described postmenopausal women presenting HSDD can benefit from the association of testosterone to conventional hormonal therapy. Testosterone has been linked to development of cardiovascular diseases including hypertension and it also increases cytochrome P -450-induced 20-HETE synthesis which in turn results in vascular dysfunction...
2018: Frontiers in Physiology
Emma Louise Walton
In this issue of the Biomedical Journal, we learn how biomarkers in saliva may be able to provide insight into the health of the brain and the central nervous system. We also discover how computational modeling can help to identify potential epitopes for vaccine development against Chlamydia, the world's most common sexually transmitted infection.
April 2018: Biomedical Journal
Judy Z Segal
In August, 2015, the US Food and Drug Administration approved Addyi (flibanserin) for the treatment of Hypoactive Sexual Desire Disorder in premenopausal women. Ten months before that, the FDA had held a Patient-Focused Drug Development Public Meeting to address the 'unmet need' for a pharmaceutical to treat that condition. I attended that meeting as a rhetorical observer. This essay is an account of persuasive strategies used on, and then by, the FDA, as it considered approving a drug that was not convincingly either safe or effective...
June 1, 2018: Social Studies of Science
Susann Karlberg, Aila Tiitinen, Henrik Alfthan, Marita Lipsanen-Nyman
STUDY QUESTION: What is the timing of onset and clinical course of premature ovarian insufficiency (POI) in patients with Mulibrey nanism (MUL), a monogenic disorder caused by mutations of the peroxisomal TRIM37 gene? SUMMARY ANSWER: The number of ovarian follicles is highly reduced already in infant and young MUL girls and the majority of them will have early depletion of follicles resulting in clinical and biochemical signs of POI. WHAT IS KNOWN ALREADY: Both female and male patients with MUL show failure of sexual maturation, signs of hypogonadism and infertility...
June 1, 2018: Human Reproduction
Krupali Bulsari, Louise Maple-Brown, Henrik Falhammar
BACKGROUND: Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by deficiency of various enzymes responsible for adrenal steroidogenesis. 11-Beta-hydroxylase deficiency (11βOHD) and 17-hydroxylase/17,20-lyase deficiency (17OHD) are rare causes of CAH. METHODS/RESULTS: We hereby present a 65-year-old man with 11βOHD and a 33-year-old woman with 17OHD. The man with 11βOHD presented with peripheral precocious puberty and hypertension at age 15 years, fathered two children but developed complications of chronic glucocorticoid therapy on long-term follow-up...
March 2018: Hormones: International Journal of Endocrinology and Metabolism
Jodi L Pawluski, Mary Gemmel
There is growing use of selective serotonin reuptake inhibitor antidepressant (SSRI) medications during the perinatal period to treat maternal affective disorders. Perinatal SSRI exposure can have a long-term impact on offspring neuroplasticity and behavioral development that remains to be fully elucidated. This mini-review will summarize what is known about the effects of perinatal SSRIs on plasticity in the developing hippocampus, taking into account the role that maternal stress and depression may have. Emerging clinical findings and research in animal models will be discussed...
March 2018: Hormones: International Journal of Endocrinology and Metabolism
Andrea Avendaño, Irene Paradisi, Francisco Cammarata-Scalisi, Michele Callea
5-α-Reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during the fetal period and later during puberty. Its deficiency causes an autosomal recessive disorder of sex development characterized by a wide range of under-virilization of external genitalia in patients with a 46,XY karyotype. Mutations in the SRD5A2 gene cause 5-α-Reductase deficiency; although it is an infrequent disorder, it has been reported worldwide, with mutational heterogeneity...
April 20, 2018: Hormones: International Journal of Endocrinology and Metabolism
Beom-Young Cho
BACKGROUND: Early initiation of alcohol use, cannabis use, and sexual intercourse among adolescents is an important public health concern in the United States. Parents' history of substance use disorder is an important contributing factor for children's problem behaviors. OBJECTIVES: The associations of fathers' lifetime cannabis use disorder with children's initiation of cannabis use, alcohol use, and sexual intercourse were examined. In addition, child's gender was considered as a moderator of each association...
May 30, 2018: Substance Use & Misuse
Luis Villalobos-Gallegos, María Elena Medina-Mora, Corina Benjet, Silvia Ruiz-Velasco, Carlos Magis-Rodriguez, Rodrigo Marín-Navarrete
Previous evidence links substance use disorders (SUD) to STI/HIV risk and suggests that comorbid psychiatric disorders increase the probability to engage in sexual risk behaviors. This study had two aims: (1) to identify subgroups based on sexual risk behavior using a person-centered approach in a sample of substance users and (2) to measure the association of psychiatric and SUD with subgroup membership. We assessed 402 male adults with SUD, reporting sexual intercourse in the previous 12 months using the HIV-Risk Behavior Scale and the Mini International Neuropsychiatric Interview...
May 29, 2018: Archives of Sexual Behavior
Kayle S Sawyer, Nasim Maleki, George Papadimitriou, Nikos Makris, Marlene Oscar-Berman, Gordon J Harris
Excessive alcohol consumption is associated with brain aberrations, including abnormalities in frontal and limbic brain regions. In a prior diffusion tensor magnetic resonance imaging (dMRI) study of neuronal circuitry connecting the frontal lobes and limbic system structures, we demonstrated decreases in white matter fractional anisotropy in abstinent alcoholic men. In the present study, we examined sex differences in alcoholism-related abnormalities of white matter connectivity and their association with alcoholism history...
May 9, 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
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