نتایج جستجو برای: cah

تعداد نتایج: 1054  

2016
Kelly J. McKelvey Vanessa M. Yenson Anthony W. Ashton Jonathan M. Morris Sharon A. McCracken

Inbred strains of mice are powerful models for understanding human pregnancy complications. For example, the exclusive mating of CBA/J females to DBA/2J males increases fetal resorption to 20-35% with an associated decline in placentation and maintenance of maternal Th1 immunity. More recently other complications of pregnancy, IUGR and preeclampsia, have been reported in this model. The aim of ...

2017
Anna Berg Ankush Gulati Sigmund Ytre-Hauge Kristine E. Fasmer Karen K. Mauland Erling A. Hoivik Jenny A. Husby Ingvild L. Tangen Jone Trovik Mari K. Halle Ingunn Stefansson Lars A. Akslen Kathrine Woie Line Bjørge Helga B. Salvesen Øyvind O. Salvesen Henrica M.J. Werner Ingfrid S. Haldorsen Camilla Krakstad

PURPOSE Distinguishing complex atypical hyperplasia (CAH) from grade 1 endometrioid endometrial cancer (EECG1) preoperatively may be valuable in order to prevent surgical overtreatment, particularly in patients wishing preserved fertility or in patients carrying increased risk of perioperative complications. MATERIAL AND METHODS Preoperative histological diagnosis and radiological findings we...

2017
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 b...

Journal: :European journal of endocrinology 2007
Hedi L Claahsen-van der Grinten Fred C G J Sweep Johan G Blickman Ad R M M Hermus Barto J Otten

OBJECTIVE Testicular adrenal rest tumours (TART) are a well-known complication in adult male patients with congenital adrenal hyperplasia (CAH), with a reported prevalence of up to 94%. In adulthood, the tumours are associated with gonadal dysfunction most probably due to longstanding obstruction of the seminiferous tubules. The aim of our study was to determine the presence of TART and their i...

2013
Akimune Kaga Akiko Saito-hakoda Mitsugu Uematsu Miki Kamimura Junko Kanno Shigeo Kure Ikuma Fujiwara

Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been clarified. We report a newborn boy with CAH who presented brain white matter abnormality on MRI. He was diagnosed as having salt-wasting CAH with a high 17-OHP ...

Journal: :iranian journal of medical sciences 0
efat khorasani department of pediatric endocrinology, imam reza hospital, mashhad university of medical sciences, mashhad, iran rahim vakili department of pediatric endocrinology, imam reza hospital, mashhad university of medical sciences, mashhad, iran

congenital adrenal hyperplasia (cah) is a group of hereditary diseases, which are autosomal recessive. cah occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. in this article, we report a case of cah and schmid metaphyseal dysplasia. our literature review indicated that this report is the first attempt on cyp11b1 a...

2015
Helmuth G. Dörr Birgit Odenwald

Congenital adrenal hyperplasia (CAH) comprises a group of rare autosomal recessively inherited disorders of cortisol biosynthesis in the adrenal cortex. More than 95% are based on a defect in the CYP21A2 gene causing 21-hydroxylase deficiency. Newborn screening (NBS) for CAH by means of 17-hydroxy-progesterone (17-OHP) determination in dried whole blood on filter paper has been introduced as pa...

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2013
Luciana Mattos Barros Oliveira José Antônio Diniz Faria Daniela Nunes-Silva Renata Lago Maria Betânia Pereira Toralles

OBJECTIVE The objective of this study was to evaluate patients with classic CAH before and after treatment with glucocorticoids/mineralocorticoid and compare the metabolic profile of the well controlled (WC) and poorly controlled (PC) group. SUBJECTS AND METHODS We selected newly diagnosed patients and patients monitored for CAH, classical form, regularly using or not glucocorticoids/mineralo...

2011
Aysha H Khan Muniba Aban Jamal Raza Naeem ul Haq Abdul Jabbar Tariq Moatter

BACKGROUND Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2). We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH. METHODS A cross sectional study was conducted for the identification of mutations CYP21A2 and their phenotypic as...

Journal: :iranian red crescent medical journal 0
besa gacaferri lumezi department of physiology and immunology, university clinical center of kosovo, pristina, kosovo; department of physiology and immunology, university clinical center of kosovo, bulevardi i deshmoreve p.n. 10 000, prishtina, kosovo. tel/fax: +37-744186036 aferdita goci child and adolescent mental health center, university clinical center of kosovo, pristina, kosovo violeta lokaj department of physiology and immunology, university clinical center of kosovo, pristina, kosovo hatixhe latifi department of physiology and immunology, university clinical center of kosovo, pristina, kosovo natyra karahoda department of physiology and immunology, university clinical center of kosovo, pristina, kosovo ganimete minci department of physiology and immunology, university clinical center of kosovo, pristina, kosovo

discussion: establishing the etiology, using the evidence–based strategies to improve hirsutism, and treating the underlying disorder, are essential for proper management of women with hirsutism. case presentation: the case was a 17-year-old female with severe hirsutism, oligomenorrhea, and obesity. she was evaluated to identify the etiology and diagnosed as a case of polycystic ovarian syndrom...

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