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Androgen insensitivity

Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager
Disorders (differences) of sexual development encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity, and Turner syndrome. Obstetrician-gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine, and anatomic considerations of the most common conditions to provide optimal care...
October 6, 2016: Obstetrics and Gynecology
Hector Mesa, Scott Gilles, Milton W Datta, Paari Murugan, Wendy Larson, Susan Dachel, Carlos Manivel
We performed a detailed morphologic, immunophenotypic, and endocrine characterization of neoplastic and non-neoplastic lesions of androgen-producing cells known to harbor or lack Reinke crystals (RCs) with an aim to provide further insight into the nature of these cells and crystals. Study cases were selected from the files of participating hospitals and subclassified according to current classifications: 20 with Leydig cell tumors (LCTs), 2 with testicular adrenal rest tumors (TARTs), 2 with testicular tumors of adrenogenital syndrome (TTAGS), and 2 with androgen insensitivity syndrome (AIS)...
October 1, 2016: Virchows Archiv: An International Journal of Pathology
Yuma Sakura, Kazuhito Tsuboi, Toru Uyama, Xia Zhang, Rikiya Taoka, Mikio Sugimoto, Yoshiyuki Kakehi, Natsuo Ueda
N-Acylethanolamine acid amidase (NAAA) is a lysosomal enzyme, hydrolyzing various bioactive N-acylethanolamines with a preference for palmitoylethanolamide. Human NAAA mRNA was previously reported to consist of multiple 3'-end splice variants. However, their tissue distributions and roles have not been examined yet. In the present study, we first identified four major splice variants (tentatively referred to as a1, a2, b2, and c2) in a human prostate cancer cell line LNCaP, which were composed of exons 1-11, exons 1-10 and 12, exons 1-9 and 12, and exons 1-8 and 12, respectively...
October 5, 2016: Biochimica et Biophysica Acta
Aditya Shetty, Subramanyam Dasari, Souresh Banerjee, Taher Gheewala, Guoxing Zheng, Aoshuang Chen, Andre Kajdacsy-Balla, Maarten C Bosland, Gnanasekar Munirathinam
Hepatoma-derived growth factor (HDGF) is a heparin-binding growth factor, which has previously been shown to be expressed in a variety of cancers. HDGF overexpression has also previously been correlated with a poor prognosis in several cancers. The significance of HDGF in prostate cancer, however, has not been investigated. Here, we show that HDGF is overexpressed in both androgen-sensitive LNCaP cells and androgen-insensitive DU145, 22RV1, and PC-3 cells. Forced overexpression enhanced cell viability of RWPE-1 cells, whereas HDGF knockdown reduced cell proliferation in human prostate cancer cells...
September 27, 2016: Urologic Oncology
Bibhas Kar, Subbiah Sivamani, Shankar Kundavi, Thankam Rama Varma
BACKGROUND: Androgen insensitivity syndrome or testicular feminization syndrome is a rare X-linked recessive disorder, which encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile)...
October 2016: Journal of Obstetrics and Gynaecology of India
Angela Ann Joseph, Bindu Kulshreshtha, Iram Shabir, Eunice Marumudi, Tony Sam George, Rajesh Sagar, Manju Mehta, Ariachery C Ammini
Children with disorders of sex development (DSD) manifest at birth with malformed genitalia or later with atypical pubertal development. Those born with malformed genitalia are often diagnosed at birth. However, in resource-poor countries like India, where not all births are supervised by healthcare workers, some of these children remain undiagnosed until puberty or even later. The aim of this study was to assess the gender issues and psychosocial problems of children with DSD. Participants included 205 children with DSD (103 with 46,XX DSD and 102 with 46,XY DSD)...
September 20, 2016: Archives of Sexual Behavior
Stephen Wilson, Jianfei Qi, Fabian V Filipp
Sequence motifs are short, recurring patterns in DNA that can mediate sequence-specific binding for proteins such as transcription factors or DNA modifying enzymes. The androgen response element (ARE) is a palindromic, dihexameric motif present in promoters or enhancers of genes targeted by the androgen receptor (AR). Using chromatin immunoprecipitation sequencing (ChIP-Seq) we refined AR-binding and AREs at a genome-scale in androgen-insensitive and androgen-responsive prostate cancer cell lines. Model-based searches identified more than 120,000 ChIP-Seq motifs allowing for expansion and refinement of the ARE...
2016: Scientific Reports
Julie Bakker, Judy van Hemmen
No abstract text is available yet for this article.
August 2016: Médecine Sciences: M/S
Johanna Känsäkoski, Jarmo Jääskeläinen, Tiina Jääskeläinen, Johanna Tommiska, Lilli Saarinen, Rainer Lehtonen, Sampsa Hautaniemi, Mikko J Frilander, Jorma J Palvimo, Jorma Toppari, Taneli Raivio
Mutations in the X-linked androgen receptor (AR) gene underlie complete androgen insensitivity syndrome (CAIS), the most common cause of 46,XY sex reversal. Molecular genetic diagnosis of CAIS, however, remains uncertain in patients who show normal coding region of AR. Here, we describe a novel mechanism of AR disruption leading to CAIS in two 46,XY sisters. We analyzed whole-genome sequencing data of the patients for pathogenic variants outside the AR coding region. Patient fibroblasts from the genital area were used for AR cDNA analysis and protein quantification...
2016: Scientific Reports
Agnethe Berglund, Trine H Johannsen, Kirstine Stochholm, Mette H Viuff, Jens Fedder, Katharina M Main, Claus H Gravholt
CONTEXT: The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical presentation at diagnosis is sparse even for the most frequent conditions, androgen insensitivity syndrome (AIS) and gonadal dysgenesis (GD). OBJECTIVE: To estimate incidence, prevalence, age at diagnosis and clinical presentation at diagnosis in 46,XY females. DESIGN AND SETTING: A nationwide study covering all known females with a 46,XY karyotype in Denmark since 1960...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
N C Hornig, M Ukat, H U Schweikert, O Hiort, R Werner, S L S Drop, M Cools, I A Hughes, L Audi, S F Ahmed, J Demiri, P Rodens, L Worch, G Wehner, A E Kulle, D Dunstheimer, E Müller-Roßberg, T Reinehr, A T Hadidi, A K Eckstein, C van der Horst, C Seif, R Siebert, O Ammerpohl, P-M Holterhus
CONTEXT: Only about 85% of patients with clinical diagnosis complete androgen insensitivity syndrome (CAIS) and less than 30% with partial androgen insensitivity syndrome (PAIS) can be explained by inactivating mutations in the androgen receptor (AR) gene. OBJECTIVE: To clarify this discrepancy by in-vitro determination of AR transcriptional activity in individuals with disorders of sex development (DSD) and male controls. DESIGN: Quantification of dihydrotestosterone (DHT)-dependent transcriptional induction of the AR target gene apolipoprotein D (APOD) in cultured genital fibroblasts (GF) (APOD-assay) and next generation sequencing (NGS) of the complete coding - and non-coding AR-locus...
September 1, 2016: Journal of Clinical Endocrinology and Metabolism
Mallory N Locklear, Michalis Michealos, William F Collins, Mary F Kritzer
The mesocortical and mesolimbic dopamine systems regulate cognitive and motivational processes and are strongly implicated in neuropsychiatric disorders in which these processes are disturbed. Sex differences and sex hormone modulation are also known for these dopamine-sensitive behaviors in health and disease. One relevant mechanism of hormone impact appears to be regulation of cortical and subcortical dopamine levels. This study asked whether this regulation of dopamine tone is a consequence of sex or sex hormone impact on the firing modes of ventral midbrain dopamine neurons...
August 26, 2016: European Journal of Neuroscience
S Huet, A Tardieu, M Filloux, M Essig, N Pichon, J F Therme, P Piver, Y Aubard, J M Ayoubi, O Garbin, P Collinet, A Agostini, V Lavoue, A Piccardo, T Gauthier
OBJECTIVE: Uterine infertility (UI), which can be caused by a variety of congenital or acquired factors, affects several thousand women in Europe. Uterus transplantation (UTx), at the current stage of research, offers hope for these women to be both the biological mother and the carrier of their child. However, the indications of UTx still need to be defined. The main aim of the study was to describe the different etiologies of UI and other data as marital and parental status from women requesting UTx who contacted us in the framework of a UTx clinical trial...
October 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Xiaojie Zhang, Rubing Wang, German Ruiz Perez, Guanglin Chen, Qiang Zhang, Shilong Zheng, Guangdi Wang, Qiao-Hong Chen
In search of more effective chemotherapeutics for the treatment of castration-resistant prostate cancer and inspired by curcumin analogues, twenty five (1E,3E,6E,8E)-1,9-diarylnona-1,3,6,8-tetraen-5-ones bearing two identical terminal heteroaromatic rings have been successfully synthesized through Wittig reaction followed by Horner-Wadsworth-Emmons reaction. Twenty-three of them are new compounds. The WST-1 cell proliferation assay was employed to assess their anti-proliferative effects toward both androgen-sensitive and androgen-insensitive human prostate cancer cell lines...
October 1, 2016: Bioorganic & Medicinal Chemistry
V Chauhan, R Dada, V Jain
46, XY differences of sex development (DSD) constitute a heterogenous group of rare genetic defects. Definitive aetiological diagnosis cannot be made in more than half of these cases. The aim of our study was to prospectively evaluate and assign a probable diagnosis based on clinical and biochemical parameters in children with 46, XY DSD. Prospective clinical and biochemical screening was performed in a series of 46, XY children referred to paediatric endocrine services of our centre. Forty children with 46, XY DSD were investigated, and presumptive aetiological diagnoses of 5-alpha reductase deficiency (5αRD), partial gonadal dysgenesis (PGD), partial androgen insensitivity syndrome (PAIS), congenital bilateral anorchia (CBA), congenital lipoid adrenal hyperplasia (CLAH), ovotesticular DSD (OT-DSD) and Frasier syndrome (FS) were made...
August 8, 2016: Andrologia
Julia Hoefer, Mohammady Akbor, Florian Handle, Philipp Ofer, Martin Puhr, Walther Parson, Zoran Culig, Helmut Klocker, Isabel Heidegger
Enzalutamide is an androgen receptor (AR) inhibitor approved for therapy of metastatic castration resistant prostate cancer. However, clinical application revealed that 30 to 40% of patients acquire resistance after a short period of treatment. Currently, the molecular mechanisms underlying such resistances are not completely understood, partly due to a lack of model systems. In the present study we established three different cellular models of enzalutamide resistance including a cell line with wild type AR (LAPC4), DuCaP cells which overexpress wild-type AR, as well as a cell which has been adapted to long term androgen ablation (LNCaP Abl) and harbors the AR T878A mutation...
July 29, 2016: Oncotarget
Xiang Li, Guanglin Chen, Xiaojie Zhang, Qiang Zhang, Shilong Zheng, Guangdi Wang, Qiao-Hong Chen
Flavonoids are a large class of polyphenolic compounds ubiquitously distributed in dietary plants with an array of biological activities. Flavonols are a major sub-class of flavonoids featuring a hydroxyl group at C-3. Certain natural flavonols, such as quercetin and fisetin, have been shown by in vitro cell-based and in vivo animal experiments to be potential anti-prostate cancer agents. However, the Achilles' heel of flavonols as drug candidates is their moderate potency and poor pharmacokinetic profiles...
September 1, 2016: Bioorganic & Medicinal Chemistry Letters
Anne-Marie Amies Oelschlager, Katherine Debiec, Heather Appelbaum
PURPOSE OF REVIEW: Primary vaginal dilation is patient controlled, safe, less painful, and much lower cost compared with operative vaginoplasty and is considered first-line treatment for vaginal agenesis for women with Mayer-Rokitansky-Küster-Hauser syndrome and androgen insensitivity syndrome. RECENT FINDINGS: This review will highlight studies that assess the optimal methods of primary vaginal dilation and clarify ideal counseling, frequency of dilation, management of side-effects, and long-term physical and psychological outcomes...
October 2016: Current Opinion in Obstetrics & Gynecology
Francisco Cortés-Benítez, Marisa Cabeza, María Teresa Ramírez-Apan, Berenice Alvarez-Manrique, Eugene Bratoeff
In this study, we report the synthesis and anti-proliferative effect of a set of eight androst-4-ene-3-one derivatives with different arylcarbamoyl groups at C-17. The novel compounds were prepared from commercially available 3β-hydroxy-5-pregnen-20-one and evaluated against the androgen-sensitive human prostate adenocarcinoma LNCaP cell line. The cancerous cells were exposed to 50 μM of each compound and the proliferating agent testosterone (T) or dihydrotestosterone (DHT). The most potent compounds from this assay were further tested against the androgen-insensitive PC3 cell line...
October 4, 2016: European Journal of Medicinal Chemistry
A Lucas-Herald, S Bertelloni, A Juul, J Bryce, J Jiang, M Rodie, R Sinnott, M Boroujerdi, M Lindhardt-Johansen, O Hiort, P M Holterhus, M Cools, G Guaragna-Filho, G Guerra-Junior, N Weintrob, S Hannema, S Drop, T Guran, F Darendeliler, A Nordenstrom, I A Hughes, C Acerini, R Tadokoro-Cuccaro, S F Ahmed
BACKGROUND: In boys with suspected Partial Androgen Insensitivity Syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking. OBJECTIVE: To assess the clinical characteristics and long-term outcomes in young men with suspected PAIS in relation to the results of AR analysis Methods: Through the I-DSD Registry, clinical information was gathered on young men suspected of having PAIS (n=52) who presented before the age of 16 yrs and who had genetic analysis of AR...
July 12, 2016: Journal of Clinical Endocrinology and Metabolism
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