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    Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology.
    Genet Res Int 2018 18;2018:7624932. Epub 2018 Feb 18.
    Department of Molecular Endocrinology, National Institute for Research in Reproductive Health, J.M. Street, Parel, Mumbai 400012, India.
    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. Read More

    Role of AMH as Diagnostic Tool for Polycystic Ovarian Syndrome.
    J Obstet Gynaecol India 2018 Apr 15;68(2):117-122. Epub 2017 Nov 15.
    1Department of Obstetric and Gynecology, PGIMER and Dr RML Hospital, New Delhi, 110001 India.
    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. Read More

    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.
    J Am Acad Dermatol 2018 Apr 13. Epub 2018 Apr 13.
    Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY. Electronic address:
    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. The information contained in this continuing medical education article should facilitate a better understanding on hair disorders in cancer survivors, so that adequate support and therapies may be provided to cancer survivors. Read More

    CME Part 1: Hair disorders in cancer patients.
    J Am Acad Dermatol 2018 Apr 13. Epub 2018 Apr 13.
    Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY. Electronic address:
    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. Read More

    Rebound thymic hyperplasia after adrenalectomy in a patient with Cushing syndrome caused by adrenocortical adenoma: A case report.
    Medicine (Baltimore) 2018 Apr;97(15):e0367
    Department of Pediatrics, Chonbuk National University Medical School.
    Rationale: The development of rebound thymic hyperplasia (RTH) has been reported in patients who have recovered from stressful conditions such as surgery and steroid therapy. We report a case of RTH following the resolution of hypercortisolism after adrenalectomy for the treatment of adrenocortical adenoma in a patient with Cushing syndrome.

    Patient Concerns: A 5-month-old female infant with a history of overeating, hirsutism, and excessive weight gain for the previous 2 months was referred to the hospital. Read More

    Potential genetic polymorphisms predicting polycystic ovary syndrome.
    Endocr Connect 2018 Apr 5. Epub 2018 Apr 5.
    S Fang, Hangzhou Fuyang Women and Children Hospital, Hangzhou, China.
    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. Read More

    Contemporary approaches to the management of polycystic ovary syndrome.
    Ther Adv Endocrinol Metab 2018 Apr 7;9(4):123-134. Epub 2018 Feb 7.
    University Alma Mater Studiorum of Bologna, Via Santo Stefano 38, 40125 Bologna, Italy.
    Polycystic ovary syndrome (PCOS) is a common disorder in women in their reproductive years and is characterized by androgen excess, ovulatory dysfunction, and polycystic ovarian morphology. It is also associated with several metabolic abnormalities, particularly insulin resistance and obesity, which play an important role in the pathophysiology of PCOS and, in particular, negatively influence ovarian function and fertility. This review article summarizes the available treatment for women with PCOS. Read More

    Cutis laxa in a patient with 1p36 deletion syndrome.
    J Dermatol 2018 Apr 3. Epub 2018 Apr 3.
    Department of Dermatology, Shanghai Children's Medical Center, Shanghai Jiaotong University, School of Medicine, Shanghai, China.
    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. Read More

    The effect of CAG repeats length on differences in hirsutism among healthy Israeli women of different ethnicities.
    PLoS One 2018 27;13(3):e0195046. Epub 2018 Mar 27.
    Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
    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. Read More

    The evaluation of the relationship between some related hormone levels and diet in obese or overweight patients with hirsutism: A randomized clinical trial.
    J Family Med Prim Care 2017 Oct-Dec;6(4):755-759
    Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
    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. Read More

    Aromatase Deficiency due to a Novel Mutation in Gene.
    J Clin Res Pediatr Endocrinol 2018 03 19. Epub 2018 Mar 19.
    Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakir, Turkey.
    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. Read More

    Metabolic risk assessment of Indian women with polycystic ovarian syndrome in relation to four Rotterdam criteria based phenotypes.
    Eur J Obstet Gynecol Reprod Biol 2018 Mar 1;224:60-65. Epub 2018 Mar 1.
    Department of Preventive Medicine, Faculty of Public Health, University of Debrecen, Debrecen, Hungary.
    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. Read More

    The case for early use of rapid whole genome sequencing in management of critically ill infants: Late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease and recurrent infections.
    Cold Spring Harb Mol Case Stud 2018 Mar 16. Epub 2018 Mar 16.
    Rady Children's Institute for Genomic Medicine.
    Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy number variants, and single gene mutations. Read More

    [Diffuse hypertrichosis revealing non-classical congenital adrenal hyperplasia].
    Ann Dermatol Venereol 2018 Mar 7. Epub 2018 Mar 7.
    Service de dermatologie, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex, France. Electronic address:
    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. Read More

    Salivary cortisol and cortisone responses to short-term psychological stress challenge in late adolescent and young women with different hyperandrogenic states.
    Psychoneuroendocrinology 2018 May 24;91:31-40. Epub 2018 Feb 24.
    Endocrinology Unit, Department of Medical and Surgical Sciences, Centre for Applied Biomedical Research (C.R.B.A.), S. Orsola-Malpighi Hospital, Alma Mater University of Bologna, Bologna, Italy. Electronic address:
    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. Read More

    Treatment Options for Hirsutism: A Systematic Review and Network Meta-Analysis.
    J Clin Endocrinol Metab 2018 Mar 7. Epub 2018 Mar 7.
    Mayo Clinic Evidence-based Practice Center, Mayo Clinic, Rochester, Minnesota.
    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. Read More

    Evaluation and Treatment of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline.
    J Clin Endocrinol Metab 2018 Mar 7. Epub 2018 Mar 7.
    University of Chicago, Chicago, Illinois.
    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. Read More

    An ovarian Leydig cell tumor of ultrasound negative in a postmenopausal woman with hirsutism and hyperandrogenism: A case report.
    Medicine (Baltimore) 2018 Mar;97(10):e0093
    Department of Endocrinology, the First Affiliated Hospital, College of Medicine, Zhejiang University.
    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. Read More

    Impact of Autoimmune Thyroiditis on Reproductive and Metabolic Parameters in Patients with Polycystic Ovary Syndrome.
    Exp Clin Endocrinol Diabetes 2018 Apr 5;126(4):198-204. Epub 2018 Mar 5.
    Endokrinologikum Hamburg, Lornsenstraße 4-6; Hamburg, Germany.
    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. Read More

    An 88-year-old woman with flushing, alopecia and hirsutism and a Sertoli-Leydig cell tumour.
    BMJ Case Rep 2018 Mar 1;2018. Epub 2018 Mar 1.
    Department of Endocrinology, Susquehanna Health System, Williamsport, Pennsylvania, USA.
    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. Read More

    Coronary artery disease risk in young women with polycystic ovary syndrome.
    Oncotarget 2018 Feb 4;9(9):8756-8764. Epub 2018 Jan 4.
    Management Office for Health Data, China Medical University Hospital, Taichung, Taiwan.
    Women with polycystic ovary syndrome are characterized by obesity, menstruation irregularity, hirsutism and infertility, and prevalent with cardiometabolic comorbidities, but population-based studies on the risk of developing coronary artery disease are limited. From claims data of the Taiwan National Health Insurance, we identified 8048 women with polycystic ovary syndrome aged 15-49 years newly diagnosed in 1998-2013, and 32192 women without the syndrome and CAD as controls, frequency matched by age and diagnosis date. By the end of 2013, after a mean follow-up period of 5. Read More

    The effect of resistant dextrin as a prebiotic on metabolic parameters and androgen level in women with polycystic ovarian syndrome: a randomized, triple-blind, controlled, clinical trial.
    Eur J Nutr 2018 Feb 26. Epub 2018 Feb 26.
    Midwifery Department, Social Determinants of Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
    Introduction: Polycystic ovary syndrome (PCOS) is one of the most common abnormalities in women of reproductive age that can lead to a variety of metabolic and reproductive disorders. Studies reveal that a healthy diet is the most effective way for treating the risk factors associated with metabolic disorders and place greater emphasis on the consumption of prebiotic foods. The present study aims to determine the effect of resistant Dextrin on metabolic parameters, including lipid profile, fasting blood glucose (FBS) and high sensitivity C-reactive protein (hsCRP), and androgen levels, including serum levels of dehydroepiandrosterone sulfate (DHEA-S) and free testosterone, as the primary outcomes, and manifestations of PCOS including menstrual cycle irregularity and hirsutism, as the secondary outcomes. Read More

    [Exploration of the meridian differentiation law in polycystic ovarian syndrome of hirsutism based on data mining technology].
    Zhongguo Zhen Jiu 2018 Feb;38(2):165-73
    Dongfang Hospital of Beijing University of CM, Beijing 100078, China.
    Objective: To analyze the distribution characteristics of hirsutism and the law of meridian differentiation in polycystic ovarian syndrome (PCOS).

    Methods: For the patients of PCOS, the modified Ferriman-Gallwey score (mF-G score) was adopted to evaluate the hirsutism distribution. The clementine data mining software was used to analyze the distribution region of hirsutism and the correlation with meridian. Read More

    Adverse effects of doping with anabolic androgenic steroids (AAS) in competitive athletics, recreational sports and bodybuilding.
    Minerva Endocrinol 2018 Feb 19. Epub 2018 Feb 19.
    Centre of Reproductive Medicine and Andrology, University Hospital Münster, Muenster, Germany -
    Despite the fact that sports organizations and legislators have introduced various mechanisms to discourage athletes from using performance and appearance enhancing substances a high percentage of athletes admits to their unabated application. In competitive athletics, bodybuilding and in recreational sports anabolic androgenic steroids (AAS) continue to be the substances most abused. This review summarizes the side effects of AAS abuse on organs and system functions in both sexes. Read More

    The Diagnostic Value of Anti-Mullerian Hormone in Early Post Menarche Adolescent Girls with Polycystic Ovarian Syndrome.
    J Pediatr Adolesc Gynecol 2018 Feb 17. Epub 2018 Feb 17.
    Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
    Study Objective: Polycystic ovarian syndrome (PCOS) is a common endocrine disorder characterized by hyperandrogenism and chronic anovulation, which affects 5-10% of reproductive age females. Diagnosis of adult patients with PCOS is made easily with clinical and laboratory methods and the antimullerian hormone (AMH) level are accepted as a good indicator. However, there is still no complete consensus on the diagnosis of PCOS in adolescents. Read More

    Para-ovarian adrenal rest tumors: gynecologic manifestations of untreated congenital adrenal hyperplasia.
    Gynecol Endocrinol 2018 Feb 20:1-3. Epub 2018 Feb 20.
    d Department of Gynecology Oncology , University of California Irvine , Orange , CA , USA.
    Congenital adrenal hyperplasia (CAH) is an inherited disorder of adrenal steroidogenesis often diagnosed in infancy. Gynecologists may encounter adult patients with CAH due to the clinical effects of increased androgens, e.g. Read More

    Effects of combined oral contraceptives on the clinical and biochemical parameters of hyperandrogenism in patients with polycystic ovary syndrome: a systematic review and meta-analysis.
    Eur J Contracept Reprod Health Care 2018 Feb 19;23(1):64-77. Epub 2018 Feb 19.
    b Reproductive Endocrinology Research Center, Research Institute for Endocrine Sciences , Shahid Beheshti University of Medical Sciences , Tehran , Iran.
    Introduction: Nowadays, selection of COCs with maximum antiandrogenic effects is one the main issues in treatment of women with polycystic ovary syndrome (PCOS).

    Objective: This systematic review and meta-analysis aimed to compare the effects of COCs on the clinical and biochemical parameters of hyperandrogenism (HA) in patients with PCOS.

    Methods: Electronic databases (PubMed, Scopus, ScienceDirect and web of science) were searched from 1987 to November 2015 to identify clinical trials investigating effect of the various COCs on the clinical and biochemical parameters of HA in patients. Read More

    Adult-onset acne: prevalence, impact, and management challenges.
    Clin Cosmet Investig Dermatol 2018 1;11:59-69. Epub 2018 Feb 1.
    Paulista Medical School, Universidade Federal de São Paulo (Federal University of São Paulo), São Paulo, SP, Brazil.
    Acne is a multifactorial and inflammatory disease of pilosebaceous follicles, which affects most adolescents. Recent epidemiological data revealed a difference in adults affected by this disease. Women have a high prevalence and incidence when compared with men, especially after 25 years of age. Read More

    Non-targeted profiling of circulating microRNAs in women with polycystic ovary syndrome (PCOS): effects of obesity and sex hormones.
    Metabolism 2018 Feb 2. Epub 2018 Feb 2.
    Diabetes, Obesity and Human Reproduction Research Group, Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain. Electronic address:
    Purpose: Circulating micro-ribonucleic acids (miRNAs) are small noncoding RNA molecules that influence gene transcription. We conducted the present profiling study to characterize the expression of circulating miRNAs in lean and obese patients with polycystic ovary syndrome (PCOS), the most common endocrine and metabolic disorder in premenopausal women.

    Basic Procedures: We selected 11 control women, 12 patients with PCOS and 12 men so that they were similar in terms of body mass index. Read More

    Diagnostic Evaluation, Comorbidity Screening, and Treatment of Polycystic Ovary Syndrome in Adolescents in 3 Specialty Clinics.
    J Pediatr Adolesc Gynecol 2018 Feb 1. Epub 2018 Feb 1.
    Section of Adolescent Medicine and Sports Medicine, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
    Study Objective: A polycystic ovary syndrome (PCOS) diagnosis in adolescence can have significant long-term health implications. The criteria for its diagnosis in adolescents have been subject to much debate. In this study we aimed to characterize the variability in diagnosis and management among different pediatric specialties. Read More

    Association between severity of depression and clinico-biochemical markers of polycystic ovary syndrome.
    Electron Physician 2017 Nov 25;9(11):5820-5825. Epub 2017 Nov 25.
    M.D., Endocrinologist, Associate Professor, Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
    Background: Polycystic ovary syndrome (PCOS), as the most common endocrine disorder among reproductive-aged women may lead to psychological morbidity.

    Objectives: The present study set out to evaluate the severity of depression in PCOS and non-PCOS women and to evaluate correlation between depression score with body mass index, HOMA-IR, and testosterone level in every group (PCOS and non-PCOS women) in Yazd province.

    Methods: In this cross-sectional study, 62 women with PCOS and 61 non- PCOS subjects (20 to 40 years) who were attending Imam-Ali Clinic in Yazd, Iran from September 2014 through March 2015 participated. Read More

    Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report.
    Ther Clin Risk Manag 2018 22;14:149-155. Epub 2018 Jan 22.
    Department of Functional Sciences.
    Background: Gitelman syndrome (GS) is considered as the most common renal tubular disorder, and we report the first Romanian patient with GS confirmed at molecular level and diagnosed according to genetic testing.

    Patient And Methods: This paper describes the case of a 27-year-old woman admitted with severe hypokalemia, slight hypomagnesemia, hypocalcemia, hypocalciuria, metabolic alkalosis, hyperreninemia, low blood pressure, limb muscle weakness, marked fatigue and palpitations. Family history revealed a consanguineous family with autosomal-recessive transmission of GS with two cases over five generations. Read More

    Homology Modeling of 5-alpha-Reductase 2 Using Available Experimental Data.
    Interdiscip Sci 2018 Jan 30. Epub 2018 Jan 30.
    Pharmaceutical Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran.
    5-Alpha-reductase 2 is an interesting pharmaceutical target for the treatment of several diseases, including prostate cancer, benign prostatic hyperplasia, male pattern baldness, acne, and hirsutism. One of the main approaches in computer aided drug design is structure-based drug discovery. However, the experimental 3D structure of 5-alpha-reductase 2 is not available at present. Read More

    Gut Microbial Diversity in Women with Polycystic Ovary Syndrome Correlates with Hyperandrogenism.
    J Clin Endocrinol Metab 2018 Jan 23. Epub 2018 Jan 23.
    Department of Reproductive Medicine, University of California, San Diego, La Jolla, CA, USA.
    Context: A majority of women with polycystic ovary syndrome (PCOS) have metabolic abnormalities that result in an increased risk of developing type 2 diabetes and heart disease. Correlative studies have shown an association between changes in the gut microbiome and metabolic disorders. Two recent studies reported a decrease in alpha diversity of the gut microbiome in women with PCOS compared with healthy women. Read More

    New perspectives on the definition and management of polycystic ovary syndrome.
    J Endocrinol Invest 2018 Jan 23. Epub 2018 Jan 23.
    Unit of Endocrinology, S. Orsola-Malpighi Hospital, University Alma Mater Studiorum of Bologna, Bologna, Italy.
    Background: There is a growing debate on the opportunity of improving the understanding in the diagnosis and management of polycystic ovary syndrome (PCOS).

    Objective: This review article summarizes recent research related to the definition of polycystic ovary syndrome (PCOS).

    Methods: Review of the recent literature on the topic. Read More

    Understanding and Addressing Hair Disorders in Transgender Individuals.
    Am J Clin Dermatol 2018 Jan 19. Epub 2018 Jan 19.
    Department of Dermatology, The Permanente Medical Group, 975 Sereno Drive, Vallejo, CA, 94589, USA.
    In the United States, an increasing number of individuals are identifying as transgender. Males at birth who identify as females are called male-to-female (MTF) transgender individuals or trans women, and females at birth who identify as males are called female-to-male (FTM) transgender individuals or trans men. The transgender patient population possess unique health concerns disparate from those of the general populace. Read More

    Cantú syndrome with coexisting familial pituitary adenoma.
    Endocrine 2018 Mar 11;59(3):677-684. Epub 2018 Jan 11.
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
    Context: Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations of Cantú syndrome.

    Case Description: We present a three-generation family with 5 affected members, with marked acromegaloid facies and prominent hypertrichosis, due to a novel missense variant in the ABCC9 gene. Read More

    Head to head comparison of adverse effects and efficacy between high dose deflazacort and high dose prednisolone in systemic lupus erythematosus: a prospective cohort study.
    Lupus 2018 Jan 1:961203317751854. Epub 2018 Jan 1.
    1 Department of Clinical Immunology and Rheumatology, 30025 Christian Medical College, Vellore , India.
    Background Deflazacort (DFZ), an oxazoline derivative of prednisolone (PDN), has a dose equivalence of 1.2:1 (mg) to PDN. No study to date has compared adverse effects and efficacy of high doses of DFZ as against high-dose PDN in systemic lupus erythematosus (SLE). Read More

    A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
    Cold Spring Harb Mol Case Stud 2018 Jan 5. Epub 2018 Jan 5.
    Institute for Genomic Medicine at Nationwide Children's Hospital.
    Two sisters (ages 16 y. and 15 y.) have been followed by our clinical genetics team for several years. Read More

    Combined oral contraceptives and/or antiandrogens versus insulin sensitizers for polycystic ovary syndrome: a systematic review and meta-analysis.
    Hum Reprod Update 2017 Dec 27. Epub 2017 Dec 27.
    Department of Endocrinology & Metabolism, Hospital Universitario Ramón y Cajal & Universidad de Alcalá, E-28034 Madrid, Spain.
    Background: Androgen excess is a key pathogenetic mechanism in polycystic ovary syndrome (PCOS), although hyperinsulinism also contributes to androgen secretion. Therapeutic approaches for adult patients not seeking fertility include combined oral contraceptives (COC), antiandrogens (AA) and/or insulin sensitizers, although these practices are supported by limited high-quality evidence.

    Objective And Rationale: We aimed to assess the efficacy and safety of these common treatments for PCOS by conducting a meta-analysis of RCTs with the following review questions: Which is the more appropriate therapeutic approach for hyperandrogenic symptoms, hyperandrogenemia, and ovulatory dysfunction in adult women with PCOS not seeking fertility; What is the impact on classic cardiometabolic risk factors of the more common treatments used in those women; Does the combination of the antiandrogenic therapy plus metformin have any impact on efficacy or cardiometabolic profile?

    Search Methods: We searched PubMed and EMBASE for articles published up to 16 September 2017. Read More

    Pathomechanisms of polycystic ovary syndrome: Multidimensional approaches.
    Front Biosci (Elite Ed) 2018 Mar 1;10:384-422. Epub 2018 Mar 1.
    Department of Molecular Endocrinology, National Institute for Research in Reproductive Health (ICMR), J.M. Street, Parel, Mumbai, India, 400012,
    Polycystic ovary syndrome is a complex endocrine disorder affecting numerous women of reproductive age across the globe. Characterized mainly by irregular menses, hirsutism, skewed LH: FSH ratios and bulky polycystic ovaries, this multifactorial endocrinopathy results in unfavorable reproductive and metabolic sequelae, including anovulatory infertility, type 2 diabetes, metabolic syndrome and cardiovascular disease in later years. Increasing evidence has shown that the manifestation of polycystic ovary syndrome (PCOS) is attributable to a cumulative impact of altered genetic, epigenetic and protein profiles which bring about a systemic dysfunction. Read More

    UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
    Am J Med Genet A 2018 Mar 28;176(3):722-726. Epub 2017 Dec 28.
    Dipartimento di Biochimica, Biofisica e Patologia Generale, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy.
    UBE2A deficiency is a syndromic condition of X-linked intellectual disability (ID) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, micropenis, and onychodystrophy. To date, only seven familial UBE2A intragenic mutations and nine larger microdeletions encompassing UBE2A have been reported. Here, we describe two siblings with X-linked ID and typical clinical features of UBE2A deficiency caused by a novel hemizygous variant, identified by massively parallel sequencing of X-exome. Read More

    What is adolescent polycystic ovary syndrome?
    J Paediatr Child Health 2018 Apr 27;54(4):351-355. Epub 2017 Dec 27.
    SA Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia.
    The diagnostic criteria for adolescent polycystic ovary syndrome (PCOS) has been derived from adult criteria, which makes diagnosis challenging as criteria include normal physiological events that occur during puberty such as acne, hirsutism, menstrual irregularities, high androgen levels and polycystic ovarian morphology on pelvic ultrasound. The only criteria that applies from the adult criteria is exclusion of other conditions that mimic PCOS. Clinical findings consistent with hyperandrogenaemia during adolescence include inflammatory acne, hirsutism, alopecia and/or menstrual irregularities, which are severe and present 2 years after menarche. Read More

    Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area.
    J Endocr Soc 2017 Aug 26;1(8):1012-1014. Epub 2017 Jun 26.
    Endocrinology Unit, Dos De Mayo Hospital, Lima, Peru (051) 15072.
    Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by the loss of body fat. The global prevalence of CGL is one in 10 million, and there are four subtypes. The case is presented of a 18-year-old woman from rural area of the north coast of Peru (Piura) with limited access to health services. Read More

    A Liquid Chromatography/Tandem Mass Spectometry Profile of 16 Serum Steroids, Including 21-Deoxycortisol and 21-Deoxycorticosterone, for Management of Congenital Adrenal Hyperplasia.
    J Endocr Soc 2017 Mar 10;1(3):186-201. Epub 2017 Feb 10.
    Assistance Publique Hôpitaux de Paris (APHP), Hôpitaux Universitaires Est Parisien, Département PM2, Plateforme de Métabolomique, Peptidomique et de Dosage de Médicaments, and.
    Context: Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency (CAH21) is most often diagnosed by newborn screening. The classic parameter studied is 17-hydroxy-progesterone, but the positive predictive value for the diagnosis of CAH is low in full-term newborns and even lower in preterm newborns.

    Objective: To evaluate the diagnostic utility of simultaneously quantifying a large number of steroids by using liquid chromatography/tandem mass spectrometry (LC-MS/MS) from a small serum volume in patients with CAH, particularly during the neonatal period. Read More

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