keyword
MENU ▼
Read by QxMD icon Read
search

Androgen insensitivity

keyword
https://www.readbyqxmd.com/read/28493277/bone-mineral-density-in-complete-androgen-insensitivity-syndrome-and-the-timing-of-gonadectomy
#1
Thomas F J King, Winnie Z M Wat, Sarah M Creighton, Gerard S Conway
OBJECTIVE: Low bone mineral density (BMD) has been reported in complete androgen insensitivity syndrome (CAIS), but the impact of timing of gonadectomy is not known. We aimed to assess the relationship between age of gonadectomy and BMD in women with CAIS. DESIGN: Retrospective analysis of pre- and post-gonadectomy parameters in women with CAIS attending an adult Disorders of Sex Development (DSD) clinic in a tertiary centre. PATIENTS: One hundred and thirteen women with CAIS...
May 10, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28487303/female-phenotype-with-male-karyotype-a-clinical-enigma
#2
Suja Sukumar, Pavan Uppula, Santosh Kumar, Anil Bhansali
Development of gonadal and phenotypic sex during embryogenesis invariably corresponds to the genotypic sex. However, some disorders of sex development are associated with discordance between the chromosomal, gonadal or phenotypic sex which include complete androgen insensitivity syndrome, 46XY complete gonadal dysgenesis (Swyer syndrome) and, rarely, congenital adrenal hyperplasia due to CYP 17A1 (17α-hydroxylase) deficiency. The enzyme CYP17A1 includes 17α-hydroxylase and 17,20-lyase which are required for the synthesis of cortisol and sex steroids, respectively...
May 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28473226/kennedy-disease-x-linked-recessive-bulbospinal-neuronopathy-a-comprehensive-review-from-pathophysiology-to-therapy
#3
REVIEW
G Querin, G Sorarù, P-F Pradat
Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by expansion of a CAG repeat sequence in exon 1 of the androgen receptor gene (AR) encoding a polyglutamine (polyQ) tract. The polyQ-expanded AR accumulates in nuclei, and initiates degeneration and loss of motor neurons and dorsal root ganglia. While the disease has long been considered a pure lower motor neuron disease, recently, the presence of major hyper-creatine-kinase (CK)-emia and myopathic alterations on muscle biopsy has suggested the presence of a primary myopathy underlying a wide range of clinical manifestations...
May 1, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28456808/heterozygous-nonsense-mutation-in-the-androgen-receptor-gene-associated-with-partial-androgen-insensitivity-syndrome-in-an-individual-with-47-xxy-karyotype
#4
Rafael L Batista, Andresa S Rodrigues, Mirian Y Nishi, Alina C R Feitosa, Nathália L R A Gomes, José Antonia F Junior, Sorahia Domenice, Elaine M F Costa, Berenice B de Mendonça
There are only 2 patients with 47,XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47,XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X- inactivation of the healthy allele...
April 29, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28432720/androgen-receptor-dysfunction-as-a-prevalent-manifestation-in-young-male-carriers-of-a-flna-gene-mutation
#5
Laura Carrera-García, Maximiliano Francisco Rivas-Crespo, María Soledad Fernández García
Androgenic actions require the proper signal transmission by the androgen receptor (AR), a nuclear transcription factor. This is initially located in the cell cytoplasm and should translocates to the nucleus to interact with DNA. AR functional impairment causes diverse blockage degrees of androgenic steroid action, known as androgen insensitivity syndromes. Filamin A, a protein coded by the FLNA gene, is a co-activator of various cytoplasmic factors, including AR. The mutational inactivation of the FLNA gene induces insufficiency of translocation and activation of AR...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28422721/functional-analysis-implicating-the-snp-rs61552325-in-erbb2-as-an-effector-for-androgen-insensitive-prostate-cancer-cell-invasion
#6
Xianxiang Xin, Yinmin Gu, Yang Chen, Yuanjie Huang, Zengnan Mo, Yanling Hu
BACKGROUND: As one of the most common cancers in men, the pathogenesis of prostate cancer has been widely researched. Aberrant activation of the erb-b2 receptor tyrosine kinase 2 (ERBB2) has been found to play a critical role in metastatic prostate cancer. In our previous study, we demonstrated that rs61552325 (Pro1140Ala) located in ERBB2 is strongly correlated to prostate cancer. Therefore, we initially studied the effect of rs61552325 on androgen-independent prostate cancer cell metastasis...
May 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28413602/do-sex-differences-in-ceoaes-and-2d-4d-ratios-reflect-androgen-exposure-a-study-in-women-with-complete-androgen-insensitivity-syndrome
#7
Judy van Hemmen, Peggy T Cohen-Kettenis, Thomas D Steensma, Dick J Veltman, Julie Bakker
BACKGROUND: Studies investigating the influence of perinatal hormone exposure on sexually differentiated traits would greatly benefit from biomarkers of these early hormone actions. Click-evoked otoacoustic emissions show sex differences that are thought to reflect differences in early androgen exposure. Women with complete androgen insensitivity syndrome (CAIS), who lack androgen action in the presence of XY-chromosomes, enabled us to study the effect of complete androgen inaction. The main goal was to investigate a possible link between click-evoked otoacoustic emissions and effective androgen exposure and, thus, whether this can be used as a biomarker...
2017: Biology of Sex Differences
https://www.readbyqxmd.com/read/28401578/dual-action-of-high-estradiol-doses-on-mnu-induced-prostate-neoplasms-in-a-rodent-model-with-high-serum-testosterone-protective-effect-and-emergence-of-unstable-epithelial-microenvironment
#8
Bianca F Gonçalves, Silvana G P de Campos, Rejane M Góes, Wellerson R Scarano, Sebastião R Taboga, Patricia S L Vilamaior
BACKGROUND: Estrogens are critical players in prostate growth and disease. Estrogen therapy has been the standard treatment for advanced prostate cancer for several decades; however, it has currently been replaced by alternative anti-androgenic therapies. Additionally, studies of its action on prostate biology, resulting from an association between carcinogens and estrogen, at different stages of life are scarce or inconclusive about its protective and beneficial role on induced-carcinogenesis...
June 2017: Prostate
https://www.readbyqxmd.com/read/28391184/thioredoxin-1-modulates-apoptosis-induced-by-bioactive-compounds-in-prostate-cancer-cells
#9
Aida Rodriguez-Garcia, David Hevia, Juan C Mayo, Pedro Gonzalez-Menendez, Lucia Coppo, Jun Lu, Arne Holmgren, Rosa M Sainz
Accumulating evidence suggests that natural bioactive compounds, alone or in combination with traditional chemotherapeutic agents, could be used as potential therapies to fight cancer. In this study, we employed four natural bioactive compounds (curcumin, resveratrol, melatonin, and silibinin) and studied their role in redox control and ability to promote apoptosis in androgen sensitive and insensitive prostate cancer cells. Here is shown that curcumin and resveratrol promote ROS production and induce apoptosis in LNCaP and PC-3...
March 31, 2017: Redox Biology
https://www.readbyqxmd.com/read/28386495/bilateral-sertoli-cell-tumors-in-a-patient-with-androgen-insensitivity-syndrome
#10
Roberta Fonseca de Souza, Janaina Pereira da Silva, Bruno Vieira Balla, Rodrigo Neves Ferreira, Antônio Chambô Filho
Androgen insensitivity syndrome is the most common cause of male pseudohermaphroditism and the third most common cause of primary amenorrhea. This genetic alteration is a consequence of inherited defects on the X chromosome causing total or partial damage to the intrauterine virilization process due to functional abnormalities in the androgen receptors. The present report describes a 22-year-old patient with a female phenotype and a 46, XY karyotype, presenting with bilateral inguinal tumors. The tumors were surgically removed at the Santa Casa de Misericórdia Hospital in Vitória, Espírito Santo, Brazil...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28386489/psychological-aspects-of-androgen-insensitivity-syndrome-two-cases-illustrating-therapeutical-challenges
#11
Filippa Pritsini, Georgios A Kanakis, Ioannis Kyrgios, Eleni P Kotanidou, Eleni Litou, Konstantina Mouzaki, Aggeliki Kleisarchaki, Dimitrios G Goulis, Assimina Galli-Tsinopoulou
Androgen Insensitivity Syndrome (AIS) and its heterogeneous phenotypes comprise the pieces of a challenging clinical problem. The lack of standardized guidelines results in controversies regarding the proper diagnostic and therapeutic approach, including the time and type of intervention. Due to its variable phenotype, AIS is not diagnosed at the proper age that would allow optimal psychological and medical support to the patient. Therapeutic approaches are not established, mainly due to the rarity of the disease...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28373003/inhibition-of-the-rank-rankl-signaling-with-osteoprotegerin-prevents-castration-induced-acceleration-of-bone-metastasis-in-castration-insensitive-prostate-cancer
#12
Koichiro Takayama, Takamitsu Inoue, Shintaro Narita, Shinya Maita, Mingguo Huang, Kazuyuki Numakura, Hiroshi Tsuruta, Mitsuru Saito, Atsushi Maeno, Shigeru Satoh, Norihiko Tsuchiya, Tomonori Habuchi
Androgen deprivation therapy (ADT) for patients with metastatic or locally advanced prostate cancer reduces bone mineral density by stimulating receptor activator of nuclear factor kappa-B (RANK) signaling in osteoclasts. The involvement of the RANK/RANKL signaling in ADT-induced acceleration of bone metastasis in castration-insensitive prostate cancer was examined in a murine model using osteoprotegerin (OPG). Male Balb/c nude mice were divided into three groups: the non-castration, castration, and castration + OPG groups...
March 31, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28351649/frequency-of-gonadal-tumours-in-complete-androgen-insensitivity-syndrome-cais-a-retrospective-case-series-analysis
#13
S Chaudhry, R Tadokoro-Cuccaro, S E Hannema, C L Acerini, I A Hughes
BACKGROUND: Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder of sex development (DSD) where affected individuals are phenotypically female, but have an XY karyotype and testes. The risk of gonadal tumour development in CAIS may increase with age; incidence rates have been reported to be 0.8-22% in patients who have retained their gonads into adulthood. Consequently, gonadectomy has been recommended either during childhood or after puberty is complete, although there is no consensus on the optimal timing for this procedure...
March 14, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28320446/an-assessment-of-the-quality-of-the-i-dsd-and-the-i-cah-registries-international-registries-for-rare-conditions-affecting-sex-development
#14
M Kourime, J Bryce, J Jiang, R Nixon, M Rodie, S F Ahmed
BACKGROUND: With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses. METHODS: The design and operational aspects of the registries were evaluated against published quality indicators. Additional criteria included the level of activity, international acceptability of the registries and their use for research...
March 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28299491/effects-of-androgen-receptor-mutation-on-testicular-histopathology-of-patient-having-complete-androgen-insensitivity
#15
Ihtisham Bukhari, Guangyuan Li, Liu Wang, Furhan Iqbal, Huan Zhang, Jiansheng Zhu, Hui Liu, Xiangdong Fang, Nasser M Al-Daghri, Howard J Cooke, Yuanwei Zhang, Xiaohua Jiang
Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient...
March 15, 2017: Journal of Molecular Histology
https://www.readbyqxmd.com/read/28261839/clinical-and-molecular-characteristics-in-15-patients-with-androgen-receptor-gene-mutations-from-south-china
#16
L Su, J Cheng, X Yin, G Liu, Z Lu, H Sheng, Y Cai, Q Shi, L Liu
A variety of mutations in the androgen receptor (AR) gene are linked to androgen insensitivity syndrome (AIS) or sexual development disorder. Here, we studied 15 patients with various degrees of disorders of genital hypoplasia from South China. Clinical data including basal hormone level, phenotype, karyotyping and SRY gene identification were documented. Exons with flanking intronic region of the AR gene were sequenced and analysed for mutations, and a total of eight mutations were identified in the AR gene...
March 6, 2017: Andrologia
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
#17
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...
March 1, 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
#18
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...
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
#19
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
#20
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
keyword
keyword
112181
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"