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https://www.readbyqxmd.com/read/29670770/genetic-variants-associated-with-hyperandrogenemia-in-pcos-pathophysiology
#1
REVIEW
Roshan Dadachanji, Nuzhat Shaikh, Srabani Mukherjee
Polycystic ovary syndrome is a multifactorial endocrine disorder whose pathophysiology baffles many researchers till today. This syndrome is typically characterized by anovulatory cycles and infertility, altered gonadotropin levels, obesity, and bulky multifollicular ovaries on ultrasound. Hyperandrogenism and insulin resistance are hallmark features of its complex pathophysiology. Hyperandrogenemia is a salient feature of PCOS and a major contributor to cosmetic anomalies including hirsutism, acne, and male pattern alopecia in affected women...
2018: Genetics Research International
https://www.readbyqxmd.com/read/29669566/apa-i-polymorphism-in-vdr-gene-is-related-to-metabolic-syndrome-in-polycystic-ovary-syndrome-a-cross-sectional-study
#2
Betânia Rodrigues Santos, Sheila Bunecker Lecke, Poli Mara Spritzer
BACKGROUND: Polycystic ovary syndrome (PCOS) is a common endocrine disorder determined by polygenic traits as well as environmental factors. Lower vitamin D levels have been detected in PCOS women and related to hormone and metabolic disturbances. Vitamin D acts in tissues through the vitamin D receptor (VDR). VDR gene variants have been associated with worse metabolic profile in the general population. We investigated the genotype and haplotype distribution of the Bsm-I (rs1544410), Apa-I (rs7975232), and Taq-I (rs731236) VDR gene polymorphisms in PCOS and non-hirsute women from southern Brazil...
April 18, 2018: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/29662281/role-of-amh-as-diagnostic-tool-for-polycystic-ovarian-syndrome
#3
Upma Saxena, Manisha Ramani, Pushpa Singh
Background: To evaluate role of AMH as a diagnostic tool for PCOS. Methods: This was a prospective case-control study on women attending Gynae OPD of Dr RML Hospital, New Delhi, from 1 November 2015 to 31 March 2017. Study comprised of 45 women with PCOS, diagnosed using Rotterdam criteria and 45 women as controls. Clinical history included oligomenorrhea, hirsutism, examination included BMI, Ferriman-Gallwey score, investigations included blood for FSH, LH, estradiol, TSH, prolactin, total testosterone, AMH level and pelvic USG which was done for all women...
April 2018: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/29660423/cme-part-2-hair-disorders-in-cancer-survivors-persistent-chemotherapy-induced-alopecia-persistent-radiotherapy-induced-alopecia-and-hair-growth-disorders-related-to-endocrine-therapy-or-cancer-surgery
#4
REVIEW
Azael Freites-Martinez, Jerry Shapiro, Corina van den Hurk, Shari Goldfarb, Joaquin Jimenez, Anthony M Rossi, Ralf Paus, Mario E Lacouture
With increasing survival rates across all cancers, survivors represent a growing population that is frequently affected by persistent or permanent hair growth disorders as a result of systemic therapies, radiotherapy, surgical procedures, and therapeutic transplants. These hair disorders include persistent chemotherapy-induced alopecia, persistent radiotherapy-induced alopecia, endocrine therapy-induced alopecia and hirsutism, post-surgery alopecia and localized hypertrichosis, alopecia attributed to therapeutic transplants, and to novel anticancer therapies...
April 13, 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29660422/cme-part-1-hair-disorders-in-cancer-patients
#5
REVIEW
Azael Freites-Martinez, Jerry Shapiro, Shari Goldfarb, Julie Nangia, Joaquin J Jimenez, Ralf Paus, Mario E Lacouture
Cytotoxic chemotherapies, molecularly targeted therapies, immunotherapies, radiotherapy, stem cell transplants, and endocrine therapies may lead to hair disorders (including alopecia, hirsutism, hypertrichosis, pigmentary and textural hair changes). The mechanisms underlying these changes are varied and remain incompletely understood, hampering the development of preventive or therapeutic guidelines. The psychosocial impact of chemotherapy -induced alopecia has been well-documented mainly in the oncology literature, however the effect of other alterations such as radiation-induced alopecia, hirsutism, changes in hair color or texture on quality of life have not been described...
April 13, 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29622662/potential-genetic-polymorphisms-predicting-polycystic-ovary-syndrome
#6
Yao Chen, Shu-Ying Fang
Polycystic ovary syndrome (PCOS) is a heterogenous endocrine disorder with typical symptoms of oligomenorrhoea, hyperandrogenism, hirsutism, obesity, insulin resistance and increased risk of type 2 diabetes mellitus. Extensive evidence indicates that PCOS is a genetic disease and numerous biochemical pathways have been linked with its pathogenesis. A number of genes from these pathways have been investigated, which include those involved with steroid hormone biosynthesis and metabolism, action of gonadotropin and gonadal hormones, folliculogenesis, obesity and energy regulation, insulin secretion and action and many others...
April 5, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29611295/cutis-laxa-in-a-patient-with-1p36-deletion-syndrome
#7
Zhen Zhang, Jian Wang, Niu Li, Ruen Yao, Ji Chen
Chromosome 1p36 deletion is the most common subtelomeric deletion syndrome characterized by variable features including unique facial appearance, intellectual disability, developmental delay, cardiac defects, seizures and hypotonia. Here, we report a patient with developmental delay, dilated cardiomyopathy, seizures, hirsutism and cutis laxa who was diagnosed with 1p36 deletion syndrome by chromosome microarray analysis. This patient is the first reported case of 1p36 deletion syndrome associated with cutis laxa and our results suggest that the 1p36 region contains one or more genes relevant to cutis laxa...
April 3, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29584789/the-effect-of-cag-repeats-length-on-differences-in-hirsutism-among-healthy-israeli-women-of-different-ethnicities
#8
Naomi Weintrob, Ori Eyal, Meital Slakman, Anat Segev Becker, Galit Israeli, Ofra Kalter-Leibovici, Shay Ben-Shachar
PURPOSE: Variations in the degree of hirsutism among women of different ethnic backgrounds may stem from multiple etiologies. Shorter length of the polymorphic CAG repeats of the androgen receptor (AR) gene may be associated with increased activity of the receptor leading to hirsutism. We hypothesized that there are ethnic differences in the degree of hirsutism that is unrelated to androgen levels among Israeli women, and that the CAG repeats length may contribute to these differences...
2018: PloS One
https://www.readbyqxmd.com/read/29564258/the-evaluation-of-the-relationship-between-some-related-hormone-levels-and-diet-in-obese-or-overweight-patients-with-hirsutism-a-randomized-clinical-trial
#9
Atefeh Krouni, Sedighe Forouhari, Bahia Namavarjahromi, Mohammad Hossein Dabbaghmanesh, Arezoo Shayan, Sara Sepasi, Atefeh Zare
Introduction: Hirsutism is a common disorder that has remarkable physical and mental effects on individuals. No appropriate diet has yet specified for individuals with hirsutism. The present study was carried out to examine the effect of high-fibre, low-caloric balanced diet on some related hormone levels in obese or overweight women with hirsutism who had referred to clinics affiliated with Shiraz University of Medical Sciences. Materials and Methods: The present study was a clinical trial that was carried out on 47 obese or overweight women with hirsutism in 2014...
October 2017: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/29553041/aromatase-deficiency-due-to-a-novel-mutation-in-cyp19a1-gene
#10
Edip Ünal, Ruken Yıldırım, Funda Feryal Taş, Vasfiye Demir, Hüseyin Onay, Yusuf Kenan Haspolat
BACKGROUND: Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during the pregnancy due to increased concentration of androgens. METHODS AND RESULTS: The-nineteen-month-old girl was assessed due to ambiguous genitalia There were findings of maternal virilization during pregnancy...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29550643/metabolic-risk-assessment-of-indian-women-with-polycystic-ovarian-syndrome-in-relation-to-four-rotterdam-criteria-based-phenotypes
#11
Priyadarshini Tripathy, Asutosh Sahu, Mahija Sahu, Attila Nagy
OBJECTIVES: Though polycystic ovarian syndrome (PCOS) is associated with multiple metabolic abnormalities, the metabolic risk profile of various PCOS phenotypes is still debated. Here we sought to compare the clinical, biochemical and metabolic parameters among the different PCOS phenotypes and controls. STUDY DESIGN: A total of 394 newly diagnosed PCOS women and 108 controls were enrolled consecutively. PCOS women were divided into four phenotypes based on the presence of two of the following Rotterdam criteria: oligo/anovulation (O), hyperandrogenism (H), and polycystic ovaries (P): A (O + H + P), B (O + H), C (H + P), D (O + P)...
March 1, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29529873/cosmogenic-beryllium-7-in-soil-rainwater-and-selected-plant-species-to-evaluate-the-vegetal-interception-of-atmospheric-fine-particulate-matter
#12
Ibrahim H Saleh, Aly A Abdel-Halim
Beryllium-7 is a radionuclide produced in the upper atmosphere by cosmic-ray spallation with ions of carbon, oxygen and nitrogen. It is one of radionuclides that can be used to trace the fine particulate matter of 2.5-µm diameter (PM2.5 ) and smaller. In this work,7 Be was determined in leaves of 10 plant species collected from streets, parks and open land and in 5 consecutive rains over Alexandria, Egypt.7 Be levels were also measured in soil covered by each type of plant as well as in the nearest uncovered soil to be reference values to determine its intercepted amount and consequently PM2...
March 12, 2018: Isotopes in Environmental and Health Studies
https://www.readbyqxmd.com/read/29525066/-diffuse-hypertrichosis-revealing-non-classical-congenital-adrenal-hyperplasia
#13
C Berthin, P Sibilia, J Martins-Hericher, A Donzeau, L Martin
BACKGROUND: Non-classical congenital adrenal hyperplasia (NC-CAH) is a recessive autosomal disease caused by a deficiency of adrenal steroidogenesis enzymes. It must be distinguished from classical CAH, either simple virilising or salt-wasting, diagnosed during the neonatal period and responsible for potentially lethal disorders of sexual differentiation. NC-CAH presents a simpler and less specific clinical picture. Herein, we present two cases comprising twin girls consulting for diffuse hypertrichosis...
March 7, 2018: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29522931/salivary-cortisol-and-cortisone-responses-to-short-term-psychological-stress-challenge-in-late-adolescent-and-young-women-with-different-hyperandrogenic-states
#14
Marco Mezzullo, Flaminia Fanelli, Guido Di Dalmazi, Alessia Fazzini, Daniela Ibarra-Gasparini, Marianna Mastroroberto, Jenny Guidi, Antonio Maria Morselli-Labate, Renato Pasquali, Uberto Pagotto, Alessandra Gambineri
Hyperandrogenic disorders have been associated with psychological distress, reduced quality of life, anxiety and depression. The hypothalamic-pituitary-adrenal (HPA) axis plays a pivotal role in the adaptive response to stressor events. Salivary cortisol (SalF) and cortisone (SalE) testing have been proven to be useful in the evaluation of HPA-axis activity. This study investigated whether SalF and SalE responses to two putative stressor levels differed between the hyperandrogenic states in late adolescent and young women, thus measuring the HPA-axis adaptive response to acute stress events...
February 24, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29522641/evaluation-and-treatment-of-hirsutism-in-premenopausal-women
#15
Mizuho S Mimoto, Julie L Oyler, Andrew M Davis
No abstract text is available yet for this article.
March 9, 2018: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29522176/treatment-options-for-hirsutism-a-systematic-review-and-network-meta-analysis
#16
Patricia Barrionuevo, Mohammed Nabhan, Osama Altayar, Zhen Wang, Patricia J Erwin, Noor Asi, Kathryn A Martin, M Hassan Murad
Background: Several pharmacologic treatments for hirsutism are used in practice; however, their relative efficacy is unclear. Methods: We searched MEDLINE, EMBASE, and CENTRAL through January 2017 for randomized controlled trials (RCTs) with follow-up of at least 6 months that evaluated antiandrogens, insulin sensitizers, and oral contraceptives in women with hirsutism. Independent pairs of reviewers selected and appraised trials. Random-effects network meta-analysis was used to compare individual drugs and classes...
March 7, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29522147/evaluation-and-treatment-of-hirsutism-in-premenopausal-women-an-endocrine-society-clinical-practice-guideline
#17
Kathryn A Martin, R Rox Anderson, R Jeffrey Chang, David A Ehrmann, Rogerio A Lobo, M Hassan Murad, Michel M Pugeat, Robert L Rosenfield
Objective: To update the "Evaluation and Treatment of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline," published by the Endocrine Society in 2008. Participants: The participants include an Endocrine Society-appointed task force of seven medical experts and a methodologist. Evidence: This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation system to describe the strength of recommendations and the quality of evidence...
March 7, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29517680/an-ovarian-leydig-cell-tumor-of-ultrasound-negative-in-a-postmenopausal-woman-with-hirsutism-and-hyperandrogenism-a-case-report
#18
Min Chen, Weibin Zhou, Zhe Zhang, Yuting Zou, Chengjiang Li
RATIONALE: The incidence of severe hyperandrogenism associated with masculinity in women is very low. While rare and difficult to diagnose, androgen secreting tumors should be suspected in women with hyperandrogenism and hirsutism, especially in the postmenopausal population. Herein we present one case of ovarian Leydig cell tumor (LCT) with markedly elevated serum testosterone levels and frank hirsutism. PATIENT CONCERNS: A 60-year-old woman, presented with increased hair growth and androgenic alopecia and the hormonal laboratory examination showed that she had elevated serum testosterone level and normal dehydroepiandrosterone sulfate (DHEAS), androstenedione, 17- hydroxyprogesterone, cortisol and thyroid stimulating hormone (TSH)...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29506313/impact-of-autoimmune-thyroiditis-on-reproductive-and-metabolic-parameters-in-patients-with-polycystic-ovary-syndrome
#19
Jan Ulrich, Julia Goerges, Christoph Keck, Dirk Muller-Wieland, Sven Diederich, Onno Eilard Janssen
BACKGROUND: Autoimmune thyroiditis (AIT) has been found to be associated with polycystic ovary syndrome (PCOS). The aim of this retrospective cohort study using data from a fertility clinic, with patients recruited from 2009 to 2010, was to confirm the higher prevalence of AIT in PCOS and to evaluate the impact of AIT on reproductive and metabolic parameters of PCOS patients. METHODS: Patients comprised 827 PCOS subjects seen for reproductive or metabolic complaints...
March 5, 2018: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/29496685/an-88-year-old-woman-with-flushing-alopecia-and-hirsutism-and-a-sertoli-leydig-cell-tumour
#20
Zaina S Inam, Abdul Hussain Azizi, Soemiwati W Holland
Sertoli-Leydig cell tumour (SLCT) is a rare, androgen-secreting sex cord-stromal tumour of the ovary that usually occurs in young premenopausal women. The major clinical manifestations are virilisation and defeminisation. The following case describes an 88-year-old G1P1 woman, 40 years after menopause, who presented with flushing, hirsutism, voice changes and alopecia along with significantly elevated levels of testosterone. Postoperative report revealed a well-differentiated SLCT in the left ovary. This case is unique in that SLCT is a very rare cancer and even more so in an 88-year-old woman...
March 1, 2018: BMJ Case Reports
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