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Androgen insensitivity

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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/28192783/androgen-insensitivity-syndrome-in-a-family-of-warmblood-horses-caused-by-a-25-bp-deletion-of-the-dna-binding-domain-of-the-androgen-receptor-gene
#2
G Eastman Welsford, Rikke Munk, Daniel A F Villagómez, Poul Hyttel, W Allan King, Tamas Revay
Testicular feminization, an earlier term coined for describing a syndrome resulting from failure of masculinization of target organs by androgen secretions during embryo development, has been well documented not only in humans but also in the domestic horse. The pathology, actually referred to as androgen insensitivity syndrome (AIS), has been proposed to follow an X-linked recessive pattern of inheritance in some horse breeds already investigated. Affected individuals are characterized by a female phenotype but with a stallion genotype of 64,XY SRY+ constitution...
February 14, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28186600/-analysis-of-ar-gene-mutation-in-a-family-affected-with-complete-androgen-insensitivity-syndrome-using-long-chain-rt-pcr
#3
Xiao Zhang, Jian Zeng, Yanhong Lin, Xiangdong Tu
OBJECTIVE: To identify potential mutation of androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS) and his family members. METHODS: Total RNA and genomic DNA were extracted from the peripheral blood samples derived from the proband and her family members. Sequences of 7 exons of the AR gene were amplified with reverse transcriptase PCR(RT-PCR) and subjected to direct sequencing. Suspected mutation was also analyzed with PCR-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28165461/structure-of-the-homodimeric-androgen-receptor-ligand-binding-domain
#4
Marta Nadal, Stefan Prekovic, Nerea Gallastegui, Christine Helsen, Montserrat Abella, Karolina Zielinska, Marina Gay, Marta Vilaseca, Marta Taulès, Adriaan B Houtsmuller, Martin E van Royen, Frank Claessens, Pablo Fuentes-Prior, Eva Estébanez-Perpiñá
The androgen receptor (AR) plays a crucial role in normal physiology, development and metabolism as well as in the aetiology and treatment of diverse pathologies such as androgen insensitivity syndromes (AIS), male infertility and prostate cancer (PCa). Here we show that dimerization of AR ligand-binding domain (LBD) is induced by receptor agonists but not by antagonists. The 2.15-Å crystal structure of homodimeric, agonist- and coactivator peptide-bound AR-LBD unveils a 1,000-Å(2) large dimerization surface, which harbours over 40 previously unexplained AIS- and PCa-associated point mutations...
February 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/28161405/neo-yoke-repair-for-severe-hypospadias-a-simple-modification-for-better-outcome
#5
Hamed M Seleim, Hani Morsi, Mohamed M Elbarbary
BACKGROUND: Although staged repair for reconstructing severe hypospadias is more popular, various one-stage repairs have been attempted. Koyanagi repair (parameatal-based and fully extended circumferential foreskin flap urethroplasty) has enabled correction of severe hypospadias in one stage. However, its un-acceptably high incidence of complications has initiated a series of technical modifications, including the "yoke" repair. OBJECTIVES: To retrospectively analyze the outcome of a proposed modification of the originally described yoke repair, for patients with severe hypospadias...
January 14, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28081535/efficacy-and-safety-of-continuous-subcutaneous-infusion-of-recombinant-human-gonadotropins-for-congenital-micropenis-during-early-infancy%C3%A2
#6
Athanasia Stoupa, Dinane Samara-Boustani, Isabelle Flechtner, Graziella Pinto, Isabelle Jourdon, Laura González-Briceño, Maud Bidet, Kathleen Laborde, Didier Chevenne, Anne-Elodie Millischer, Henri Lottmann, Thomas Blanc, Yves Aigrain, Michel Polak, Jacques Beltrand
BACKGROUND: Early postnatal administration of gonadotropins to infants with congenital hypogonadotropic hypogonadism (CHH) can mimic minipuberty, thereby increasing penile growth. We assessed the effects of gonadotropin infusion on stretched penile length (SPL) and hormone levels in infants with congenital micropenis. METHODS: Single-center study including 6 males with micropenis in case of isolated CHH (n = 4), panhypopituitarism (n = 1), and partial androgen insensitivity syndrome (PAIS; n = 1)...
January 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28079402/sexual-dysfunction-in-premenopausal-women-could-be-related-to-hormonal-profile
#7
Fabiene Bernardes Castro Vale, Bruna Barbosa Coimbra, Gerson Pereira Lopes, Selmo Geber
Female sexual dysfunction (FSD) is a public health problem that affects women's quality of life. Although the relationship between some hormones and the FSD has been described, it is not well established for all hormones. Therefore, the aim of our study was to evaluate the association between hormonal dysfunction and sexual dysfunction in premenopausal women. We performed a cross-sectional study with 60 patients with regular menstrual cycles, with age ranging from 18 to 44 years, with previous diagnosis of FSD...
February 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28070912/role-of-testosterone-and-y-chromosome-genes-for-the-masculinization-of-the-human-brain
#8
Ivanka Savic, Louise Frisen, Amirhossein Manzouri, Anna Nordenstrom, Angelica Lindén Hirschberg
: Women with complete androgen insensitivity syndrome (CAIS) have a male (46,XY) karyotype but no functional androgen receptors. Their condition, therefore, offers a unique model for studying testosterone effects on cerebral sex dimorphism. We present MRI data from 16 women with CAIS and 32 male (46,XY) and 32 female (46,XX) controls. METHODS: FreeSurfer software was employed to measure cortical thickness and subcortical structural volumes. Axonal connections, indexed by fractional anisotropy, (FA) were measured with diffusion tensor imaging, and functional connectivity with resting state fMRI...
January 10, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28057092/-the-prenatal-genetic-diagnosis-of-a-family-with-complete-androgen-insensitivity-syndrome
#9
W Q Wu, Y Liu, Q Geng, F W Luo, W B Chen, H Yuan, J S Xie
Objective: To identify the Androgen Receptor (AR) gene mutation of one family with complete androgen insensitivity syndrome (CAIS) and to establish the methods of prenatal genetic diagnosis for CAIS. Methods: The AR gene exons of the family were amplified by PCR and sequenced directly. Linkage analysis was performed by using the CAG repeats in the exon1 of AR gene to assure accuracy of the prenatal diagnosis. Results: We found a frameshift mutation c. 2546del A (p. Asn849Ile fsX34) in the exon7 of AR gene in the proband...
December 20, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28039344/complete-androgen-insensitivity-syndrome-with-concomitant-seminoma-and-sertoli-cell-adenoma-an-unusual-combination
#10
Balamurugan Thirunavukkarasu, Asit Ranjan Mridha, Neena Malhotra, Sheragaru Hanumanthappa Chandrashekhara
Androgen insensitivity syndrome is a rare disorder of sex development and its clinical manifestations vary from subtle male infertility to an overt complete androgen insensitivity syndrome (CAIS) with a female phenotype. CAIS is often diagnosed at puberty or in adolescence during investigation for primary amenorrhoea. Undiagnosed patients have an increased risk of development of malignancy in the harboured testes. Inguinal hernia is the commonest mode of presentation of CAIS in childhood and various screening methods are available during the initial herniorrhaphy procedure...
December 30, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/28011219/in-silico-selection-and-cell-based-characterization-of-selective-and-bioactive-compounds-for-androgen-dependent-prostate-cancer-cell
#11
Elisa C Santa Cruz, Adriel R Carecho, Marta E Saidel, Carlos Alberto Montanari, Andrei Leitão
Prostate cancer is one of the most prevalent types of cancer in male population. It is a hormone driven disease, especially in its initial phase. Hence, androgen deprivation therapy (ADT) is the major chemotherapeutic effort and novel AR inhibitors with improved pharmacological profiles are needed. In this report, a novel bioactive compound was selected and investigated using in silico and cell-based assays. Neq0502 compound was selective for the testosterone stimulated AR-dependent prostate cancer cell (LNCaP, GI50=22...
December 11, 2016: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28005277/health-related-quality-of-life-and-psychological-well-being-in-adults-with-differences-disorders-of-sex-development
#12
Elena Bennecke, Ute Thyen, Annette Grüters, Anke Lux, Birgit Köhler
OBJECTIVE: Rare congenital conditions with incongruence of chromosomal, gonadal and phenotypic sex have been classified as differences/disorders of sex development (DSD). Included in DSD are conditions with diverse genetic aetiology, varying levels of prenatal androgen effects, phenotypes and, subsequently, different medical treatments. Quality of life (QoL) and psychological well-being are indicators of successful psychosocial adaptation to the conditions. We sought to investigate the HRQoL and psychological well-being in this population...
December 22, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27998513/sexual-orientation-and-medical-history-among-iranian-people-with-complete-androgen-insensitivity-syndrome-and-congenital-adrenal-hyperplasia
#13
Behzad S Khorashad, Ghasem M Roshan, Alistair G Reid, Zahra Aghili, Mehran Hiradfar, Mozhgan Afkhamizadeh, Ali Talaei, Azadeh Aarabi, Nosrat Ghaemi, Negin Taghehchian, Hedieh Saberi, Nazanin Farahi, Mohammad Reza Abbaszadegan
OBJECTIVE: To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female. METHODS: Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents...
January 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/27994190/three-novel-and-two-known-androgen-receptor-gene-mutations-associated-with-androgen-insensitivity-syndrome-in-sex-reversed-xy-female-patients
#14
Balachandran Saranya, Gunasekaran Bhavani, Brindha Arumugam, Meena Jayashankar, Sathiyavedu Thyagarajan Santhiya
Molecular characterization of 23 cytogenetically confirmed XY females was attempted by screening coding regions of SRY and androgen receptor (AR) genes. Five of the index cases showed sequence variations in various exons of the AR gene: a deletion (n.1911delG) and substitutions n.1761G>A and n.1317C>T in exon 1; n.3510C>T transition in exon 6 and deletion mutation (n.3672delT) in exon 7. Four mutations identified here lead to the formation of truncated receptor protein, involving a substantial loss of AR functional domains which explains the phenotype in the subjects...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27939779/comparative-immunomorphology-of-testicular-sertoli-and-sertoliform-tumors
#15
Hector Mesa, Scott Gilles, Milton W Datta, Paari Murugan, Wendy Larson, Susan Dachel, Juan C Manivel
Sertoli cell (SC) and sertoliform tumors of the testis are very uncommon; for this reason their differential diagnosis and classification can be challenging. We applied an extensive immunophenotypic panel that included androgenic hormones, enzymes and receptors, neuroendocrine, lineage and genitourinary markers to a series of these lesions to determine if and which immunostains can aid in their diagnostic workup. Study cases included: 2 androgen insensitivity syndrome associated SC-adenomas, 3 SC tumors not otherwise specified (SCT-NOS), 3 sclerosing-SCT, 2 large cell calcifying-SCT, 1 SCT with heterologous-sarcomatous elements, 1 malignant SCT, and 1 sertoliform rete testis adenoma (sertoliform-RTA)...
December 7, 2016: Human Pathology
https://www.readbyqxmd.com/read/27897410/androgen-deprivation-causes-selective-deficits-in-the-biomechanical-leg-muscle-function-of-men-during-walking-a-prospective-case-control-study
#16
Ada S Cheung, Hans Gray, Anthony G Schache, Rudolf Hoermann, Daryl Lim Joon, Jeffrey D Zajac, Marcus G Pandy, Mathis Grossmann
BACKGROUND: Although muscle mass declines with testosterone deficiency in men, previous studies of muscle function have not demonstrated consistent deficits, likely due to relatively insensitive methodology. Our objective was to determine the effects of testosterone deprivation on the biomechanical function of individual lower-limb muscles. METHODS: We conducted a 12-month prospective, observational case-control study of 34 men newly commencing androgen deprivation treatment (ADT) for prostate cancer and 29 age-matched prostate cancer controls...
February 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/27879256/determination-and-regulation-of-body-composition-in-elite-athletes
#17
Peter Sonksen
In 2011, the International Association of Athletics Federations (IAAF) and IOC introduced a 'hyperandrogenism' rule that excluded women with a serum testosterone >10 nmol/L from participating in elite sport. This rule was based on the false premise that the greater lean body mass in men was a consequence of their higher serum testosterone. This rule did not have scientific backing and the Court of Arbitration for Sport subsequently rescinded the rule following an appeal from an Indian athlete barred from the Commonwealth Games...
November 22, 2016: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/27862157/gonadal-tumour-risk-in-292-phenotypic-female-patients-with-disorders-of-sex-development-containing-y-chromosome-or-y-derived-sequence
#18
He Huang, Chunqing Wang, Qinjie Tian
OBJECTIVE: Phenotypic female disorders of sex development (DSD) patients with Y chromosome or Y-derived sequence have an increased risk of gonadal germ cell tumours (GCTs). The objective of the study was to evaluate tumour risk of DSD, summarize the clinical characteristics of patients with GCTs and propose management suggestions. METHODS: Medical records of 292 patients diagnosed DSD and undergoing bilateral gonadectomy at Peking Union Medical College Hospital from January 1996 to March 2016 were retrospectively reviewed...
October 13, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27856173/fertility-in-disorders-of-sex-development-a-review
#19
REVIEW
J P Van Batavia, T F Kolon
INTRODUCTION: Disorders of sex development (DSD) are a heterogeneous group of complex conditions that can affect chromosomal, gonadal, and/or phenotypical sex. In addition to impacts on internal and external genitalia,these conditions can affect fertility potentialto various degrees. In this review we discuss fertility issues including gonadalpreservation and reproductive outcomes based on specific DSD conditions. METHODS AND MATERIALS: A systematic literature review was performed on Embase(™), PubMed(®), and Google Scholar(™) for disordersof sex development and infertility...
December 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27849622/novel-mutations-of-the-srd5a2-and-ar-genes-in-thai-patients-with-46-xy-disorders-of-sex-development
#20
Chupong Ittiwut, Jaturong Pratuangdejkul, Vichit Supornsilchai, Sasipa Muensri, Yodporn Hiranras, Taninee Sahakitrungruang, Suttipong Watcharasindhu, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BACKGROUND: Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency: online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial androgen insensitivity syndrome (PAIS): OMIM 312300] during the 8th-12th weeks of gestation cause varying degrees of undervirilized external genitalia in 46, XY disorders of sex development (DSD) with increased testosterone production. The objective of the study was to determine clinical and genetic characteristics of Thai patients with 46, XY DSD...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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