نتایج جستجو برای: cah

تعداد نتایج: 1054  

Journal: :Applied Clinical Informatics 2014

روحانی, فرزانه , گریگوریان, آرتین ,

    Background & Objective: Congenital Adrenal Hyperplasia(CAH) includes a group of inherited diseases which are caused by enzyme defects in the synthesis of cortisol from cholesterol. It manifests itself in different forms like ambiguous genitalia, adrenal crisis in infants, precocious puberty in children, hirsutism, oligomenorrhea and infertility in adults. Although CAH is one of the most com...

1992
Ki Baik Hahm Chae Yoon Chon Won Ho Kim Kwang Hyub Han Jae Bock Chung Sang In Lee Young Myung Moon Jin Kyung Kang In Suh Park Heung Jai Choi Eun Kyung Han Chan Il Park

Reports on the histologic findings of chronic active hepatitis C (CAH-C) have been rare, and the characteristic histologic findings of CAH-C have been not yet determined. To compare the differences in the histologic findings between CAH-C and chronic active hepatitis B (CAH-B) group, we analyzed the histologic findings of 19 patients with CAH-C, who had positive tests for HCV-antibody by EIA, a...

Journal: :Pediatrics in review 2009
Zoltan Antal Ping Zhou

1. Describe the pathophysiology of congenital adrenal hyperplasia (CAH). 2. Characterize the signs and symptoms of CAH. 3. Describe the appropriate laboratory evaluation of CAH. 4. Know that CAH can be diagnosed prenatally. 5. Recognize adrenal insufficiency by laboratory and clinical evaluation. 6. Anticipate and plan treatment for both acute adrenal crisis and long-term therapy for a patient ...

Journal: :Hormone research in paediatrics 2016
Mimi S Kim Anh Dao-Tran Elana Davidowitz Teresa Tseng Vicente Gilsanz Anna Ryabets-Lienhard Eugene Nguyen Mitchell E Geffner

BACKGROUND/AIMS Youth with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency develop cardiovascular disease (CVD) risk factors of obesity and hypertension. Carotid intima-media thickness (CIMT), a marker of CVD risk, is increased in CAH young adults. We examined CIMT and its relationship with androgens and obesity in adolescents/young adults with CAH. METHODS Twenty CAH su...

Journal: :genetics in the 3rd millennium 0
maryam razzaghy azar mitra nourbakhsh

to review the diffrent aspects of gender, subtype of cah, management and results in all our patients with ambiguous genitalia diagnosed as congenital adrenal hyperplasia during the past 30 years. methods: the files of all our patients with cah reviewed retrospectively. results: out of 256 patients who had ambiguous genitalia due to cah, 96% were female and 4% were male. 21-ohd was diagnosed in ...

2014
MARZENA MACIEJEWSKA-JESKE ADAM CZYŻYK KRZYSZTOF KATULSKI AGNIESZKA PODFIGURNA-STOPA BŁAŻEJ MĘCZEKALSKI

Congenital adrenal hyperplasia (CAH) is an autosomal recessive defect in steroidogenesis, mostly affecting 21-hydroxylase enzyme deficiency. Depending on the clinical level of 21-hydroxylase deficiency, three main types of CAH are differentiated: (1) classical salt-wasting (2) simple virilizing (classical non-salt-wasting) (3) non-classical. CAH prevalence is estimated at 1 : 14 000-1 : 10 000....

Journal: :Current therapy in endocrinology and metabolism 1964
S Handwerger J H Silverstein

Cogenital adrenal hyperplasia (CAH) is a family of genetic disorders from a deleterious mutation in a gene encoding adrenal steroidogenic enzyme essential for cortisol biosynthesis. Recent molecular advances have provided the genetic basis for the phenotypic variability in CAH, a means for accurately genotyping family members of CAH patients including prenatal prediction of the genotype in fetu...

2015
Neslihan Cuhaci Cevdet Aydın Ahmet Yesilyurt Ferda Alpaslan Pınarlı Reyhan Ersoy Bekir Cakir

Objective. The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase (21-OH) deficiency due to mutation of the CYP21A2 gene. Patients with nonclassical CAH (NC-CAH) are usually asymptomatic at birth and typically present in late childhood, adolescence, or adulthood with symptoms of excessive androgen secretion. Subfertility is relative in NC-CAH, but the incidence of sponta...

Journal: :Child development 2005
Vickie L Pasterski Mitchell E Geffner Caroline Brain Peter Hindmarsh Charles Brook Melissa Hines

Toy choices of 3- to 10-year-old children with congenital adrenal hyperplasia (CAH) and of their unaffected siblings were assessed. Also assessed was parental encouragement of sex-typed toy play. Girls with CAH displayed more male-typical toy choices than did their unaffected sisters, whereas boys with and without CAH did not differ. Mothers and fathers encouraged sex-typical toy play in childr...

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