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Rebecca Nash, Kevin C Ward, Ahmedin Jemal, David E Sandberg, Vin Tangpricha, Michael Goodman
BACKGROUND: Transgender people and persons with disorders of sex development (DSD) are two separate categories of gender minorities, each characterized by unique cancer risk factors. Although cancer registry data typically include only two categories of sex, registrars have the option of indicating that a patient is transgender or has a DSD. METHODS: Data for primary cancer cases in 46 states and the District of Columbia were obtained from the North American Association of Central Cancer Registries (NAACCR) database for the period 1995-2013...
March 9, 2018: Cancer Epidemiology
F Mohammadpour Lashkari, M A Sadighi Gilani, A Ghaheri, M R Zamanian, P Borjian Boroujeni, A Mohseni Meybodi, M Sabbaghian
Disorders of sex development (DSD) are congenital abnormalities as an atypical development process in either gonadal or chromosomal structure. It is the cause of the abnormality in phenotype and characteristics. Chromosomal analysis plays an important role in the DSD determination. 45,X/46,XY mosaicism is a rare karyotype, and its prevalence is about 1.5 in 10,000 newborns. It affects the growth, hormonal balance, gonad development and histology. All data such as height, male general appearance, testis size and volume, external genitalia, spermogram and hormonal levels, testis pathology, Y chromosome microdeletion and karyotype, and assisted reproductive technology (ART) outcome were recorded based on patients profile and history...
March 12, 2018: Andrologia
Karen M Rothacker, Katie L Ayers, Dave Tang, Kiranjit Joshi, Jocelyn A van den Bergen, Gorjana Robevska, Naeem Samnakay, Lakshmi Nagarajan, Kate Francis, Andrew H Sinclair, Catherine S Choong
Background: Desert hedgehog ( DHH ) mutations have been described in only a limited number of individuals with 46, XY disorders of sex development (DSD) presenting as either partial or complete gonadal dysgenesis. Gonadal tumours and peripheral neuropathy have been associated with DHH mutations. Herein we report a novel, homozygous mutation of DHH identified through a targeted, massively parallel sequencing (MPS) DSD panel, in a patient presenting with partial gonadal dysgenesis. This novel mutation is two amino acids away from a previously described mutation in a patient who presented with complete gonadal dysgenesis...
2018: International Journal of Pediatric Endocrinology
Ekaterina Perminov, Sara Mangosing, Alexandra Confer, Olga Gonzalez, Jason R Crawford, Natalia Schlabritz-Loutsevitch, Shyamesh Kumar, Edward Dick
Disorders of sexual development are rare in non-human primates. We report a case of true hermaphroditism in a 19-year-old, nulliparous, female baboon (Papio spp.). At necropsy, the animal was obese with adequate muscle mass and hydration. Reproductive organs appeared normal with the exception of 2 firm nodular structures in the myometrium (1-1.5 cm diameter) and a thickened, dark endocervical mucosa. Histologically, both gonads were ovotestes and contained discrete areas of ovarian and testicular tissue. There were follicles in various stages of development surrounded by ovarian stroma...
March 5, 2018: Journal of Medical Primatology
Henrik Falhammar, Hedi L Claahsen-van der Grinten, Nicole Reisch, Jolanta Slowikowska-Hilczer, Anna Nordenstrom, Robert Roehle, Claire Bouvattier, Baudewijntje P Kreukels, Birgit Koehler
OBJECTIVE: The knowledge about health status in adults with disorder of sex development (DSD) is scarce. DESIGN AND METHODS: A cross-sectional observational study in 14 European tertiary centers recruited 1040 participants (717 females, 311 males, 12 others) with DSD. Mean age was 32.4±13.6 year (range 16-75). The cohort was divided into: Turner (n=301), Klinefelter (n=224), XY-DSD (n=222), XX-DSD (excluding congenital adrenal hyperplasia (CAH) and 46,XX males)(n=21), 46,XX-CAH (n=226), and 45,X/46,XY (n=45)...
February 28, 2018: Endocrine Connections
Anu Bashamboo, Caroline Eozenou, Anne Jorgensen, Joelle Bignon-Topalovic, Jean-Pierre Siffroi, Capucine Hyon, Attila Tar, Péter Nagy, Janos Sólyom, Zita Halász, Annnabel Paye-Jaouen, Sophie Lambert, David Rodriguez-Buritica, Rita Bertalan, Laetitia Martinerie, Ewa Rajpert-De Meyts, John C Achermann, Ken McElreavey
Emerging evidence from murine studies suggests that mammalian sex determination is the outcome of an imbalance between mutually antagonistic male and female regulatory networks that canalize development down one pathway while actively repressing the other. However, in contrast to testis formation, the gene regulatory pathways governing mammalian ovary development have remained elusive. We performed exome or Sanger sequencing on 79 46,XX SRY-negative individuals with either unexplained virilization or with testicular/ovotesticular disorders/differences of sex development (TDSD/OTDSD)...
February 16, 2018: American Journal of Human Genetics
Cornelia Hofstaetter, Carolina Courage, Deborah Bartholdi, Saskia Biskup, Luigi Raio
We present a case of diaphanospondylodysostosis (DSD) which showed increased nuchal translucency at 1st trimester and missing ossification of the lower spine, short ribs with posterior gaps, and absent nasal bone in midtrimester. Autopsy revealed additionally bilateral nephroblastomatosis. Molecular genetic analysis showed a new mutation in the BMPER gene.
February 2018: Clinical Case Reports
Y Ganie, C Aldous, Y Balakrishna, R Wiersma
BACKGROUND: Congenital adrenal hyperplasia (CAH) caused by deficiency of the 21-hydoxylase (21-OH) enzyme is the most common form of CAH worldwide. OBJECTIVE: To evaluate the prevalence of CAH due to 21-OH deficiency, and its clinical presentation and biochemical profiles in affected children. METHODS: We performed a retrospective subset analysis of 44 children with confirmed CAH. RESULTS: All the children had classic CAH...
February 1, 2018: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
David Andrew Griffiths
The 2006 'Consensus statement on management of intersex disorders' recommended moving to a new classification of intersex variations, framed in terms of 'disorders of sex development' or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter's syndromes should be included...
February 2018: Social Studies of Science
Mirela Habibović, Eva Broers, Jordi Piera-Jimenez, Mart Wetzels, Idowu Ayoola, Johan Denollet, Jos Widdershoven
BACKGROUND: Promoting a healthy lifestyle (eg, physical activity, healthy diet) is crucial for the primary and secondary prevention of cardiac disease in order to decrease disease burden and mortality. OBJECTIVE: The current trial aims to evaluate the effectiveness of the Do Cardiac Health: Advanced New Generation Ecosystem (Do CHANGE) service, which is developed to assist cardiac patients in adopting a healthy lifestyle and improving their quality of life. METHODS: Cardiac patients (ie, people who have been diagnosed with heart failure, coronary artery disease, and/or hypertension) will be recruited at three pilot sites (Badalona Serveis Assistencials, Badalona, Spain [N=75]; Buddhist Tzu Chi Dalin General Hospital, Dalin, Taiwan [N=100] and Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands [N=75])...
February 8, 2018: JMIR Research Protocols
Kianusch Tafazzoli, Lutz Wünsch, Marie Bouteleux, Judith Lindert, Tim Schulz, Wiebke Birnbaum, Louise Marshall, Olaf Hiort, Ludger Tüshaus
Endoscopy and laparoscopy are used for the assessment of disorders of sex development (DSD) and therapeutic interventions. Endoscopy (urethra-cystoscopy, vaginoscopy) is especially useful when vaginal or urethral surgery is planned. It is also valuable for the assessment of complications. Laparoscopy is used to identify sex ducts and gonads and to perform minimally invasive abdominal and pelvic surgery. This article reviews clinical indications, limitations, findings, and their reporting. It further discusses the impact of these findings on care in typical clinical situations...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Yang Jin, Qinyan Yue, Kunlun Yang, Suqing Wu, Shengjie Li, Baoyu Gao, Yuan Gao
A novel cathodic-anodic-electrolysis packing (CAEP) used in the treatment of pyridine wastewater was researched, which mainly consisted of 4,4'-diamino-2,2'-disulfonic acid (DSD acid) industrial iron sludge. The physical properties and morphology of the packing were studied. The CAEP was used in a column reactor during the pretreatment of pyridine wastewater. The influence of pH, hydraulic retention time (HRT), the air-liquid ratio (A/L) and the initial concentration of pyridine were investigated by measuring the removal of total organic carbon (TOC) and pyridine...
January 2018: Journal of Environmental Sciences (China)
Kei Takasawa, Maki Igarashi, Makoto Ono, Akira Takemoto, Shuji Takada, Atsuyuki Yamataka, Tsutomu Ogata, Tomohiro Morio, Maki Fukami, Kenichi Kashimada
Recently, a heterozygous missense mutation in NR5A1, p.R92W, was identified as a cause of 46,XX testicular/ovo-testicular disorders of sexual development (DSD). We report a sibling pair with 46,XX DSD due to an NR5A1 mutation with distinct phenotypes, including external and internal genitalia and gonads, for whom different rearing sexes were selected. Thus, the phenotypes of p.R92W vary, even within a family. The father of the patients showed oligozoospermia with the p.R92W mutation, suggesting that in 46,XY individuals, the mutation would cause various gonadal phenotypes...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Wouter B van der Sluis, Nicola Pavan, Giovanni Liguori, Stefano Bucci, Marta R Bizic, Vladimir Kojovic, Jochen Hess, Wilhelmus J H J Meijerink, Margriet G Mullender, Müjde Özer, Jan Maerten Smit, Marlon E Buncamper, Susanne Krege, Miroslav L Djordjevic, Carlo Trombetta, Mark-Bram Bouman
OBJECTIVES: To describe surgical outcomes of ileal vaginoplasty in transgender women and patients with disorders of sex development (DSD). PATIENTS AND METHODS: Transgender women and DSD patients, who underwent ileal vaginoplasty at the VU University Medical Center Amsterdam, University Hospital Trieste, University Hospital Essen and Belgrade University Hospital, were retrospectively identified. A chart review was performed, recording surgical technique, intraoperative characteristics, complications and reoperations...
February 1, 2018: BJU International
R Walia, M Singla, K Vaiphei, S Kumar, A Bhansali
OBJECTIVE: To study the clinical profile and the management of patients with disorders of sex development (DSD). DESIGN AND SETTING: Retrospective study from a tertiary care hospital of North India. METHODS AND PATIENTS: One hundred ninety-four patients of DSD registered in the Endocrine clinic of Postgraduate Institute of Medical Education and Research, Chandigarh between 1995 and 2014 were included. RESULTS: One hundred and two patients (52...
February 2018: Endocrine Connections
Katarina Varga, Ivana Biljan, Vladislav Tomisic, Zlatko Mihalic, Hrvoj Vancik
Monomer‒dimer equilibria of nitrosobenzene and 2-nitrosopyridine in gas phase and solution were studied by range of quantum chemical methods in an attempt to find the level of theory suitable for modeling dimerization reactions of aromatic C-nitroso compounds in general. The best agreement with the experimental standard reaction Gibbs energies was obtained with a combination of double-hybrid density functionals B2PLYP-D3, PBE0DH and DSD-PBEB86, and basis sets of triple zeta quality. Of all other tested functionals, global hybrid PBE0 behaved equally well, and proved to be more than adequate for at least preliminary work...
January 30, 2018: Journal of Physical Chemistry. A
Hayk Barseghyan, Aleisha Symon, Mariam Zadikyan, Miguel Almalvez, Eva E Segura, Ascia Eskin, Matthew S Bramble, Valerie A Arboleda, Ruth Baxter, Stanley F Nelson, Emmanuèle C Délot, Vincent Harley, Eric Vilain
BACKGROUND: Disorders of sex development (DSD) have an estimated frequency of 0.5% of live births encompassing a variety of urogenital anomalies ranging from mild hypospadias to a discrepancy between sex chromosomes and external genitalia. In order to identify the underlying genetic etiology, we had performed exome sequencing in a subset of DSD cases with 46,XY karyotype and were able to identify the causative genetic variant in 35% of cases. While the genetic etiology was not ascertained in more than half of the cases, a large number of variants of unknown clinical significance (VUS) were identified in those exomes...
January 30, 2018: Biology of Sex Differences
Katlin I Mallette, Peter Pieroni, Sonny S Dhalla
AIM: To correlate the length of endoscope hang time and number of bacteria cultured prior to use. METHODS: Prospectively, we cultured specimens from 19 gastroscopes, 24 colonoscopes and 5 side viewing duodenoscopes during the period of 2011 to 2015. A total of 164 results had complete data denoting date of cleansing, number of days stored and culture results. All scopes underwent initial cleaning in the endoscopy suite utilizing tap water, and then manually cleaned and flushed...
January 16, 2018: World Journal of Gastrointestinal Endoscopy
Marie-France Portnoi, Marie-Charlotte Dumargne, Sandra Rojo, Selma F Witchel, Andrew J Duncan, Caroline Eozenou, Joelle Bignon-Topalovic, Sventlana A Yatsenko, Aleksandar Rajkovic, Miguel Reyes-Mugica, Kristian Almstrup, Lelia Fusee, Yogesh Srivastava, Sandra Chantot-Bastaraud, Capucine Hyon, Christine Louis-Sylvestre, Pierre Validire, Caroline de Malleray Pichard, Celia Ravel, Sophie Christin-Maitre, Raja Brauner, Raffaella Rossetti, Luca Persani, Eduardo H Charreau, Liliana Dain, Violeta A Chiauzzi, Inas Mazen, Hassan Rouba, Caroline Schluth-Bolard, Stuart MacGowan, W H Irwin McLean, Etienne Patin, Ewa Rajpert-De Meyts, Ralf Jauch, John C Achermann, Jean-Pierre Siffroi, Ken McElreavey, Anu Bashamboo
SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and influences human sex-determination. We identified two individuals with 46,XY disorders/differences in sex development (DSD) and chromosomal rearrangements encompassing the SOX8 locus and a third individual with 46,XY DSD and a missense mutation in the HMG-box of SOX8...
January 24, 2018: Human Molecular Genetics
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No abstract text is available yet for this article.
February 2018: Journal of Pediatric and Adolescent Gynecology
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