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Congenital adrenal hyperplasia

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https://www.readbyqxmd.com/read/28731586/pregnancy-in-women-with-non-classic-congenital-adrenal-hyperplasia-time-to-conceive-and-outcome
#1
Ori Eyal, Irit Ayalon-Dangur, Anat Segev-Becker, Anita Schachter-Davidov, Shoshana Israel, Naomi Weintrob
OBJECTIVE: Non-classic congenital adrenal hyperplasia (NCAH) is common among Ashkenazi Jews (1:400). It is associated with various degrees of postnatal virilization, irregular menses and infertility. Therapy of symptomatic subjects consists of physiologic doses of glucocorticoids. The objective of this study was to evaluate the effect of glucocorticoid treatment on fertility and on pregnancy outcome in women with NCAH. DESIGN, SETTING AND PATIENTS: This retrospective study included 75 women diagnosed with NCAH who were followed in our clinic and sought fertility between 2008 and 2015...
July 21, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28720594/impact-of-transition-on-quality-of-life-in-patients-with-congenital-adrenal-hyperplasia-diagnosed-during-childhood
#2
Anne Bachelot, Magaly Vialon, Amandine Baptiste, Isabelle Tejedor, Caroline Elie, Michel Polak, Philippe Touraine
BACKGROUND: Health-related quality of life (QoL) in adult patients with congenital adrenal hyperplasia (CAH) has been variously reported. However, there is no study evaluating the impact of transition on quality of life. METHODS: Adult patients with classic or non-classic CAH diagnosed during childhood CAH, born between 1970 and 1990, were recruited from the registers of Pediatric departments belonging to the French reference center for endocrine rare disease. Primary end point was the quality of life (WHOQoL -BREF)...
July 18, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28711608/do-anabolic-androgenic-steroids-have-performance-enhancing-effects-in-female-athletes
#3
REVIEW
Grace Huang, Shehzad Basaria
Doping with anabolic androgenic steroids (AAS) is common among both male and female athletes and is a growing public health problem. Review of historical data of systematic state-sponsored doping programs implemented by the German Democratic Republic in elite female athletes and from the clinical trials of testosterone administration in non-athlete women suggests that AAS have ergogenic effects in women. The use of AAS in female athletes has been associated with adverse effects that include acne, hirsutism, deepening of the voice and menstrual disturbances; life-threatening adverse effects such as cardiac arrhythmias and sudden death have also been reported...
July 12, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28707538/adrenal-cortical-hyperplasia-diagnostic-workup-subtypes-imaging-features-and-mimics
#4
Michelle Agrons, Corey T Jensen, Mouhammed Amir Habra, Christine O Menias, Akram M Shaaban, Nicolaus A Wagner-Bartak, Alicia M Roman-Colon, Khaled M Elsayes
Adrenal cortical hyperplasia manifests radiologically as the nonmalignant growth, or enlargement of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Controlled by the pituitary gland, the adrenal cortex drives critical processes, such as cortisol, mineralocorticoid, and sex hormone production. Any disruption in the multiple enzymes and hormones involved in these pathways may cause serious or life-threatening symptoms, often associated with anatomical changes of the adrenal glands...
July 14, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28696998/evaluation-and-management-of-vaginoplasty-complications
#5
Anne-Marie Amies Oelschlager, Anna Kirby, Lesley Breech
PURPOSE OF REVIEW: Indications for vaginoplasty include congenital conditions such as adrenal hyperplasia, cloacal malformations, and Müllerian agenesis, acquired conditions including stenosis from radiation or surgical resection for malignancy, and gender affirmation. All vaginoplasty techniques carry significant risk of both immediate and long-term complications. RECENT FINDINGS: The purpose of this study is to provide a review of the evaluation and management of the neovagina, addressing management of human papilloma virus infections and complications including stenosis, fistula, prolapse, and neovaginal colitis...
July 10, 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28689203/global-application-of-the-assessment-of-communication-skills-of-paediatric-endocrinology-fellows-in-the-management-of-differences-in-sex-development-using-the-espe-e-learning-org-portal
#6
Laura J C Kranenburg, Sam T H Reerds, Martine Cools, Julie Alderson, Miriam Muscarella, Ellie Magrite, Martijn Kuiper, Shereen Abdelgaffar, Antonio Balsamo, Raja Brauner, Jean Pierre Chanoine, Asma Deeb, Patricia Fechner, Alina German, Paul Martin Holterhus, Anders Juul, Berenice B Mendonca, Kristen Neville, Anna Nordenstrom, Wilma Oostdijk, Rodolfo A Rey, Meilan M Rutter, Nalini Shah, Xiaoping Luo, Kalinka Grijpink, Stenvert L S Drop
BACKGROUND: Information sharing in chronic conditions such as disorders of/differences in sex development (DSD) is essential for a comprehensive understanding by parents and patients. We report on a qualitative analysis of communication skills of fellows undergoing training in paediatric endocrinology. Guidelines are created for the assessment of communication between health professionals and individuals with DSD and their parents. METHODS: Paediatric endocrinology fellows worldwide were invited to study two interactive online cases (www...
July 7, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28676275/testicular-adrenal-rest-tumor-tart-in-congenital-adrenal-hyperplasia
#7
Hatice Ozisik, Banu Sarer Yurekli, Ilgin Yildirim Simsir, Ilker Altun, Utku Soyaltın, Ezgi Guler, Huseyin Onay, Banu Sarsik, Fusun Saygili
Congenital adrenal hyperplasia is one of the most common autosomal recessive genetic disorders. Testicular adrenal tumors are significant complications of congenital adrenal hyperplasia. We would like to present two patients of testicular adrenal rest tumors. Patient 1 24 year-old male, he was diagnosed with congenital adrenal hyperplasia at the age of 8 due to precocious puberty. He received hydro-cortisone treatment until the age of 18. Testicular mass had been detected and right radical orchiectomy had been applied 6 months ago and reported as testicular adrenal rest tumor...
July 1, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28669219/the-prevalence-of-non-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-in-russian-women-with-hyperandrogenism
#8
Elena Grodnitskaya, Mark Kurtser
The aim of the study was to determine the prevalence of non-classic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase (21-OH) deficiency among hyperandrogenic women in a Russian population and to evaluate diagnostic value of basal serum 17-hydroxyprogesterone (17-OHP) level to diagnose this disease. A total of 800 consecutive Caucasian women presenting with elevation of at least one serum androgen and/or manifestation of one of the clinical androgenic symptoms were prospectively recruited and evaluated by basal 17-OHP...
July 3, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28644547/a-genetic-epidemiology-study-of-congenital-adrenal-hyperplasia-in-italy
#9
Alessandro Gialluisi, Soara Menabò, Lilia Baldazzi, Letizia Casula, Antonella Meloni, Maria Carla Farci, Stefano Mariotti, Luisa Balestrino, Rita Ortolano, Stefania Murru, Carlo Carcassi, Sandro Loche, Antonio Balsamo, Giovanni Romeo
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) is an autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 (6p21.3). 21OHD-CAH neonatal screening is based on 17-hydroxyprogesterone (17OHP) serum levels, showing high type I error rate and low sensitivity to mild CAH forms. Here, we used an epidemiological approach, which estimates the allelic frequency (q) of an autosomal recessive disorder using the proportion of homozygous patients, the mutational spectrum and the inbreeding coefficient in a sample of affected individuals...
June 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28641572/a-child-with-hypertension-and-ambiguous-genitalia-an-uncommon-variant-of-congenital-adrenal-hyperplasia-a-case-report
#10
Vivek Pant, Suman Baral, Bishal Shrestha, Arjun Tumbapo
BACKGROUND: Deficiency in 11β-hydroxylase as a cause of congenital adrenal hyperplasia is uncommon. It should be considered in the differential diagnosis of hypertension with virilization in any prepubescent child. CASE PRESENTATION: A 12-year-old Asian boy from eastern Nepal presented with pain in his abdomen and hypertension. He was raised as a male but had absent testicles since birth and had precocious puberty. Plasma testosterone, follicle-stimulating hormone, and luteinizing hormone were below baseline level...
June 23, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28640966/linking-the-degree-of-virilization-in-females-with-congenital-adrenal-hyperplasia-to-genotype
#11
Semyon Gurgov, Kerlly J Bernabé, John Stites, Christopher M Cunniff, Karen Lin-Su, Diane Felsen, Maria I New, Dix P Poppas
Mutations of CYP21A2 variably decrease 21-hydroxylase activity and result in a spectrum of disease expressions in patients with congenital adrenal hyperplasia (CAH). We examined the association between CYP21A2 mutations and virilization (Prader score) in females with CAH. The study population included 187 CAH females with fully characterized CYP21A2 mutations. One hundred fifty-eight patients were sorted into groups by expected enzyme activity (percent of normal activity) of the less severely affected allele: (A) null, 0%; (B) I2G, 1%; (C) I172N, 2%; and (D) V281L, >2%...
June 22, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28639595/prenatal-diagnosis-of-steroid-21-hydroxylase-deficient-congenital-adrenal-hyperplasia-experience-from-a-tertiary-care-centre-in-india
#12
Sudhisha Dubey, Veronique Tardy, Madhumita Roy Chowdhury, Neerja Gupta, Vandana Jain, Deepika Deka, Pankaj Sharma, Yves Morel, Madhulika Kabra
BACKGROUND & OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most families opt for prenatal testing and termination of affected foetus. CAH can be diagnosed in utero through direct molecular analysis of CYP21A2 gene, using DNA extracted from foetal tissues or cells obtained from chorionic villus sampling or amniocentesis...
February 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28638668/severe-short-stature-in-an-adolescent-male-with-prader-willi-syndrome-and-congenital-adrenal-hyperplasia-a-therapeutic-conundrum
#13
Meredith Wasserman, Erin M Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28637490/lipoid-congenital-adrenal-hyperplasia-by-steroidogenic-acute-regulatory-protein-star-gene-mutation-in-an-italian-infant-an-uncommon-cause-of-adrenal-insufficiency
#14
Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa
BACKGROUND: Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants experience salt loss, but glucocorticoid and mineralocorticoid replacement therapy enables long-term survival. Classic lipoid congenital adrenal hyperplasia is relatively common in Japan and Korea but extremely rare in Caucasian populations...
June 20, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28618705/re-should-we-question-early-feminizing-genitoplasty-for-patients-with-congenital-adrenal-hyperplasia-and-xx-karyotype
#15
Douglas A Canning
No abstract text is available yet for this article.
July 2017: Journal of Urology
https://www.readbyqxmd.com/read/28613048/is-the-second-to-fourth-digit-ratio-2d-4d-a-biomarker-of-sex-steroids-activity
#16
Vincenzo de Sanctis, Ashraf T Soliman, Heba Elsedfy, Nada Soliman, Rania Elalaily, Salvatore Di Maio
The second-to-fourth digit ratio (2D:4D) has been used as an indirect method to investigate the putative effects of prenatal exposure to androgens, and has been reported to be smaller in males than in females. This gender difference in digit length ratios has been linked with the in utero balance of androgens to oestrogen. This sexual dimorphism in 2D:4D ratios is apparent by 2 years of age and seems to be established early in life, possibly by the 14th week of gestation. Digits in females attain their maximum length at about 2...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28609197/the-glu331del-mutation-in-the-cyp17a1-gene-causes-atypical-congenital-adrenal-hyperplasia-in-a-46-xx-female
#17
Giulia Lanzolla, Giuseppe Vancieri, Silvia Lanciotti, Federica Sangiuolo, Elisa Menegatti, Luca Federici, Costanzo Moretti, Francesco Brancati
17α-Hydroxylase deficiency is an uncommon type of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene encoding both 17α-hydroxylase and 17,20-lyase, essential for sex steroids production. Main clinical features include lack of pubertal development, hypertension, and hypokalemia. We report the first case of a 46,XX female homozygote for the p.Glu331del mutation in the CYP17A1 gene showing an atypical clinical presentation. She was evaluated the first time for primary amenorrhea and delayed puberty in the presence of low levels of androgens, 17β-estradiol, serum cortisol, and high levels of progesterone and gonadotropins...
June 13, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28594910/testosterone-improves-the-differentiation-efficiency-of-insulin-producing-cells-from-human-induced-pluripotent-stem-cells
#18
Haikun Liu, Dongsheng Guo, Aynisahan Ruzi, Yan Chen, Tingcai Pan, Fan Yang, Jialiang Li, Kecheng Xu, Tiancheng Zhou, Dajiang Qin, Yin-Xiong Li
Human induced pluripotent stem cells (hiPSCs) may provide potential resource for regenerative medicine research, including generation of insulin-producing cells for diabetes research and insulin production. Testosterone (T) is an androgen hormone which promotes protein synthesis and improves the management of type 2 diabetes in clinical studies. Concurrently, co-existed hyperandrogenism and hyperinsulinism is frequently observed in polycystic ovary syndrome, congenital adrenal hyperplasia and some of Wermer's syndrome...
2017: PloS One
https://www.readbyqxmd.com/read/28582566/non-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-revisited-an-update-with-a-special-focus-on-adolescent-and-adult-women
#19
Enrico Carmina, Didier Dewailly, Héctor F Escobar-Morreale, Fahrettin Kelestimur, Carlos Moran, Sharon Oberfield, Selma F Witchel, Ricardo Azziz
BACKGROUND: Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder characterized by androgen excess. OBJECTIVE AND RATIONALE: We conducted a systematic review and critical assessment of the available evidence pertaining to the epidemiology, pathophysiology, diagnosis and management of NCAH. A meta-analysis of epidemiological data was also performed. SEARCH METHODS: Peer-reviewed studies evaluating NCAH published up to October 2016 were reviewed...
June 5, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28576284/congenital-adrenal-hyperplasia
#20
REVIEW
Diala El-Maouche, Wiebke Arlt, Deborah P Merke
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol biosynthesis. Depending on the type and severity of steroid block, patients can have various alterations in glucocorticoid, mineralocorticoid, and sex steroid production that require hormone replacement therapy. Presentations vary from neonatal salt wasting and atypical genitalia, to adult presentation of hirsutism and irregular menses...
May 30, 2017: Lancet
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