keyword
MENU ▼
Read by QxMD icon Read
search

"Congenital Adrenal Hyperplasia"

keyword
https://www.readbyqxmd.com/read/28337809/expanded-newborn-screening-program-in-saudi-arabia-incidence-of-screened-disorders
#1
Majid Alfadhel, Ali Al Othaim, Saif Al Saif, Fuad El Mutairi, Moeenaldeen Alsayed, Zuhair Rahbeeni, Hamad Alzaidan, Mohammed Alowain, Zuhair Al-Hassnan, Mohamad Saeedi, Saeed Aljohery, Ali Alasmari, Eissa Faqeih, Mansour Alwakeel, Maher AlMashary, Sulaiman Almohameed, Mohammed Alzahrani, Abeer Migdad, Osama Y Al-Dirbashi, Mohamed Rashed, Mohamed Alamoudi, Minnie Jacob, Lujane Alahaidib, Fahd El-Badaoui, Amal Saadallah, Ayman Alsulaiman, Wafaa Eyaid, Ali Al-Odaib
AIM: To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. METHODS: A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders...
March 24, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28332873/the-effect-of-implementing-standard-recommendations-for-congenital-adrenal-hyperplasia
#2
David Gillis
No abstract text is available yet for this article.
March 23, 2017: Endocrine Practice
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
#3
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/28299309/two-siblings-with-the-same-severe-form-of-21-hydroxylase-deficiency-but-different-growth-and-menstrual-cycle-patterns
#4
Mariarosaria Lang-Muritano, Karine Gerster, Susanna Sluka, Daniel Konrad
Congenital adrenal hyperplasia (CAH) is one of the most frequent autosomal recessive diseases in Europe. Treatment is a challenge for pediatric endocrinologists. Important parameters to judge the outcome are adult height and menstrual cycle. We report the follow-up from birth to adulthood of two Caucasian sisters with salt-wasting CAH due to the same mutation, homozygosity c.290-13A>G (I2 splice), in the 21-hydroxylase gene. Their adherence to treatment was excellent. Our objective was to distinguish the effects of treatment with hydrocortisone (HC) and fludrocortisone (FC) on final height (FH) from constitutional factors...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28289431/management-issues-of-congenital-adrenal-hyperplasia-during-the-transition-from-pediatric-to-adult-care
#5
REVIEW
Jin-Ho Choi, Han-Wook Yoo
Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, tumor, osteoporosis, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers...
February 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28275658/data-on-the-21-hydroxylase-deficient-cah-patients-and-the-identification-of-known-novel-mutations-in-cyp21a2-gene
#6
Ragini Khajuria, Rama Walia, Anil Bhansali, Rajendra Prasad
This article presents the dataset regarding spectrum of mutations in 21-Hydroxylase deficient CAH patients as described in "The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort" (R. Khajuria, R. Walia, A. Bhansali, R. Prasad, 2017) [1]. This dataset features about the CAH patients in the cohort, their classification into subtypes and finally screening the exon-intron boundaries of 21-Hydroxylase gene (CYP21A2) to detect common mutations, novel mutations along polymorphisms in the CYP21A2 gene...
February 2017: Data in Brief
https://www.readbyqxmd.com/read/28274350/difficult-and-rare-forms-of-acne
#7
Clio Dessinioti, Andreas Katsambas
Acne is the most common of skin diseases, being characterized as a chronic inflammatory disease of the pilosebaceous unit. Although acne is usually straightforward to diagnose and treat, some patients have difficult or rare forms of acne. What seems to be "nonresponding acne" in a patient may be caused by another acneiform disease that clinically mimics acne, thus misleading the clinician, if not ruled out, with scrutiny. Difficulties in the management of acne may be attributable to patient-related issues (low adherence to treatment or fear for side effects), treatment-related issues (inappropriate treatment, dose, or duration of treatment), or difficult-to-treat acne types (acne conglobata or acne fulminans)...
March 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/28228528/clinical-genetic-and-structural-basis-of-congenital-adrenal-hyperplasia-due-to-11%C3%AE-hydroxylase-deficiency
#8
Ahmed Khattab, Shozeb Haider, Ameet Kumar, Samarth Dhawan, Dauood Alam, Raquel Romero, James Burns, Di Li, Jessica Estatico, Simran Rahi, Saleel Fatima, Ali Alzahrani, Mona Hafez, Noha Musa, Maryam Razzghy Azar, Najoua Khaloul, Moez Gribaa, Ali Saad, Ilhem Ben Charfeddine, Berenice Bilharinho de Mendonça, Alicia Belgorosky, Katja Dumic, Miroslav Dumic, Javier Aisenberg, Nurgun Kandemir, Ayfer Alikasifoglu, Alev Ozon, Nazli Gonc, Tina Cheng, Ursula Kuhnle-Krahl, Marco Cappa, Paul-Martin Holterhus, Munier A Nour, Daniele Pacaud, Assaf Holtzman, Sun Li, Mone Zaidi, Tony Yuen, Maria I New
Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East and North Africa, where consanguinity is common often resulting in identical mutations. Clinically, affected female newborns are profoundly virilized (Prader score of 4/5), and both genders display significantly advanced bone ages and are oftentimes hypertensive...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28225306/hydrocortisone-therapy-and-growth-trajectory-in-children-with-classical-congenital-adrenal-hyperplasia
#9
Carla Bizzarri, Nicola Improda, Chiara Maggioli, Donatella Capalbo, Silvia Roma, Ottavia Porzio, Mariacarolina Salerno, Marco Cappa
OBJECTIVE: Poor linear growth is one of the main concerns in children with congenital adrenal hyperplasia (CAH). We aimed to analyze factors affecting growth trajectory in children with classical CAH. METHODS: Clinical records of children followed from infancy up to the end of growth at two Italian tertiary referral hospitals were reviewed. Fifty-seven patients (31 males), treated with hydrocortisone and fludrocortisone only, were included. Clinical observations were divided into 3 groups: 0-2 years: 172 observations; from 2 years to puberty onset: 813 observations; after puberty onset: 527 observations...
February 22, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28224294/cardio-metabolic-risk-factors-in-youth-with-classical-21-hydroxylase-deficiency
#10
Kansuda Ariyawatkul, Supatporn Tepmongkol, Suphab Aroonparkmongkol, Taninee Sahakitrungruang
Patients with congenital adrenal hyperplasia (CAH) appear to have adverse cardiovascular risk profile and other long-term health problems in adult life, but there are limited data in young CAH patients. We aim to evaluate the cardio-metabolic risk factors in adolescents and young adults with classical 21-hydroxylase deficiency (21-OHD). We performed a cross-sectional study of 21 patients (17 females) with classic CAH detected clinically and not through newborn screening, aged 15.2 ± 5.8 years, and 21 healthy matched controls...
February 21, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28217529/study-of-awareness-of-adrenal-disorders-among-interns-and-postgraduate-students-of-hamidia-hospital-bhopal
#11
Sachin Chittawar, T N Dubey, Jitendra Sharma, Sagar Khandare
INTRODUCTION: Adrenal disorders could be a life-threatening emergency, hence requires immediate therapeutic management. For this awareness regarding its diagnosis, management, and treatment is prime important. AIMS AND OBJECTIVE: To study the awareness of adrenal disorders among interns and postgraduates students of Hamidia Hospital, Bhopal. MATERIALS AND METHODS: A cross-sectional questionnaire-based study was performed. Fifty-six participants, i...
January 2017: Indian Journal of Endocrinology and Metabolism
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
#12
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/28199739/obesity-in-children-with-congenital-adrenal-hyperplasia-in-the-minnesota-cohort-importance-of-adjusting-body-mass-index-for-height-age
#13
Kyriakie Sarafoglou, Gregory P Forlenza, O Yaw Addo, Jennifer Kyllo, Aida Lteif, P C Hindmarsh, Anna Petryk, Maria Teresa Gonzalez-Bolanos, Bradley S Miller, William Thomas
OBJECTIVES: To evaluate obesity and overweight in children with congenital adrenal hyperplasia (CAH), and associations with glucocorticoids, fludrocortisone and disease control. Adjusting body mass index for-height-age (BMIHA ) percentile is proposed to correct misclassification of obese/overweight status in CAH children with advanced bone age and tall-for-age stature. DESIGN: Longitudinal. PATIENTS: 194 children with CAH seen from 1970-2013: 124 salt-wasting (SW); 70 simple-virilizing (SV); 102 females...
February 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28192635/risk-factors-for-hospitalization-of-children-with-congenital-adrenal-hyperplasia
#14
Ming Yang, Perrin C White
BACKGROUND AND OBJECTIVES: Patients with congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency are prone to potentially life-threatening adrenal crises. We tried to identify risk factors for post-diagnosis hospitalization for children with the salt wasting form of CAH. METHODS: We reviewed medical records of all children who presented to Children's Medical Center Dallas from 1999 to 2013 with congenital adrenal hyperplasia (ICD-9 code 255.2). RESULTS: 522 unique patients were coded for ICD-9 code of 255...
February 13, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28188961/high-serum-progesterone-associated-with-infertility-in-a-woman-with-nonclassic-congenital-adrenal-hyperplasia
#15
Yoshimasa Kawarai, Hiroshi Ishikawa, Tomoya Segawa, Shokichi Teramoto, Tomoaki Tanaka, Makio Shozu
Nonclassic congenital adrenal hyperplasia (NCAH) is an autosomal-recessive disorder caused by 21-hydroxylase deficiency and manifests as hirsutism and oligomenorrhea due to excess adrenal androgen and progesterone. We report a case of a woman with NCAH who showed continuous high serum progesterone levels in the follicular phase associated with impaired folliculogenesis. NCAH was diagnosed based on high 17-hydroxyprogesterone levels after rapid adrenocorticotropic hormone loading, and three heterozygous missense mutations in CYP21A2, encoding 21-hydroxylase, were identified...
February 11, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28161392/-recommendations-for-the-diagnosis-and-treatment-of-classic-forms-of-21-hydroxylase-deficient-congenital-adrenal-hyperplasia
#16
Amparo Rodríguez, Begoña Ezquieta, José Igancio Labarta, María Clemente, Rafael Espino, Amaia Rodriguez, Aranzazu Escribano
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this article we give recommendations for an early as possible diagnosis and an appropriate and individualised treatment. A patient and family genetic study is essential for the diagnosis of the patient, and allows genetic counselling, as well as a prenatal diagnosis and treatment for future pregnancy...
February 1, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28126912/growth-hormone-with-aromatase-inhibitor-may-improve-height-in-cyp11b1-congenital-adrenal-hyperplasia
#17
Katherine Hawton, Sandra Walton-Betancourth, Gill Rumsby, Joseph Raine, Mehul Dattani
With an estimated prevalence of 1 in 100 000 births, 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in CYP11B1 Clinical features include virilization, early gonadotropin-independent precocious puberty, hypertension, and reduced stature. The current mainstay of management is with glucocorticoids to replace deficient steroids and to minimize adrenal sex hormone overproduction, thus preventing virilization and optimizing growth. We report a patient with CAH who had been suboptimally treated and presented to us at 6 years of age with precocious puberty, hypertension, tall stature, advanced bone age, and a predicted final height of 150 cm...
February 2017: Pediatrics
https://www.readbyqxmd.com/read/28115464/management-of-endocrine-disease-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-update-on-the-management-of-adult-patients-and-prenatal-treatment
#18
REVIEW
Anne Bachelot, Virginie Grouthier, Carine Courtillot, Jérôme Dulon, Philippe Touraine
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by cortisol and in some cases aldosterone deficiency associated with androgen excess. Goals of treatment are to replace deficient hormones and control androgen excess, while avoiding the adverse effects of exogenous glucocorticoid. Over the last 5 years, cohorts of adults with CAH due to 21-hydroxylase deficiency from Europe and the United States have been described, allowing us to have a better knowledge of long-term complications of the disease and its treatment...
April 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28100629/impact-of-food-alcohol-and-ph-on-modified-release-hydrocortisone-developed-to-treat-congenital-adrenal-hyperplasia
#19
RANDOMIZED CONTROLLED TRIAL
Nayananjani Karunasena, Daniel N Margetson, Greg Neal, Martin J Whitaker, Richard Jm Ross
BACKGROUND: We developed a modified-release hydrocortisone, Chronocort, to replace the cortisol rhythm in patients with congenital adrenal hyperplasia. Food, alcohol and pH affect drug absorption, and it is important to assess their impact when replicating a physiological rhythm. SUBJECTS AND METHODS: In vitro dissolution to study impact of alcohol and pH on Chronocort. A phase 1, three-period, cross over study in 18 volunteers to assess the impact of food on Chronocort and to compare bioavailability to immediate-release hydrocortisone...
April 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28095810/neonatal-screening-for-congenital-adrenal-hyperplasia-in-southern-brazil-a-population-based-study-with-108-409-infants
#20
Cristiane Kopacek, Simone Martins de Castro, Mayara Jorgens Prado, Claudia Maria Dornelles da Silva, Luciana Amorim Beltrão, Poli Mara Spritzer
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil...
January 17, 2017: BMC Pediatrics
keyword
keyword
115020
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"