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Published in 2023 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.2195
Abstract: BACKGROUND Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with varying degrees of aldosterone production. There is a continuum of phenotypes which generally correlate with…
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Keywords:
chimera;
cyp21a2;
cyp21a1p cyp21a2;
cah ... See more keywords
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Published in 2018 at "Endocrine"
DOI: 10.1007/s12020-018-1827-6
Abstract: Dear Editor The article by Decmann et al. titled “Adrenal myelolipoma: a comprehensive review” [1] was interesting and informative, in which the authors comprehensively analyzed adrenal myelolipomas by reviewing available articles on databases and their…
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Keywords:
adrenal myelolipoma;
adrenal gland;
adrenal hyperplasia;
myelolipoma ... See more keywords
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Published in 2022 at "American journal of surgery"
DOI: 10.1016/j.amjsurg.2022.01.034
Abstract: OBJECTIVES The aim of this retrospective study was to compare the outcomes of trauma patients directly transported to a level I trauma center (SCENE) versus those who were stabilized at a critical access hospital (CAH)…
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Keywords:
critical access;
level trauma;
trauma center;
trauma ... See more keywords
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Published in 2018 at "Human pathology"
DOI: 10.1016/j.humpath.2018.03.009
Abstract: There is a wide range of finding endometrial adenocarcinoma (ADCA) in the uterus after a diagnosis of complex atypical hyperplasia (CAH), likely due to a poor diagnostic reproducibility and an inherent heterogeneity in CAH. We…
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Keywords:
adca;
cah;
complex atypical;
atypical hyperplasia ... See more keywords
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Published in 2020 at "Reproductive biomedicine online"
DOI: 10.1016/j.rbmo.2020.08.036
Abstract: RESEARCH QUESTION What is the association between congenital adrenal hyperplasia (CAH) and pregnancy, delivery and neonatal outcomes, using a population database cohort. DESIGN Retrospective study using the Health Care Cost and Utilization Project-Nationwide Inpatient Sample…
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Keywords:
pregnancy;
adrenal hyperplasia;
cah;
database ... See more keywords
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1
Published in 2022 at "Clinical chemistry"
DOI: 10.1093/clinchem/hvac046
Abstract: BACKGROUND Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that has been included in newborn screening programs. Current approaches to gene testing for CAH are facing challenges because of the complexity of the CYP21A2…
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Keywords:
adrenal hyperplasia;
analysis;
cah;
congenital adrenal ... See more keywords
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Published in 2022 at "Clinical Endocrinology"
DOI: 10.1111/cen.14792
Abstract: Infertility is one of the long-term complications of congenital adrenal hyperplasia (CAH) in male patients and may result in most cases from the development of testicular adrenal rest tumors (TART) (1). CAH, especially if TART…
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Keywords:
adrenal hyperplasia;
hyperplasia cah;
cah;
congenital adrenal ... See more keywords
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Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.14035
Abstract: To the Editor Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder caused by alterations in the CYP21A2 gene. CAH shows a strong genotype–phenotype correlation and, since most pathological…
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Keywords:
cyp21a2;
variant;
cah;
site ... See more keywords
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1
Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.105
Abstract: Congenital adrenal hyperplasia (CAH) is the most common cause of salt wasting during infancy. During workup other rarer causes should also be considered. We report three cases of suspected CAH, aiming to highlight that CAH…
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Keywords:
mmol;
week;
fludrocortisone;
case ... See more keywords
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Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-246603
Abstract: A young adult patient with 46XX congenital adrenal hyperplasia (CAH) presented with recurrent painful haematuria. CAH was diagnosed at birth following ambiguous genitalia. Hormonal treatment was started, female gender was assigned and feminising genitoplasty was…
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Keywords:
adrenal hyperplasia;
hyperplasia cah;
hysterectomy phenotypic;
cah ... See more keywords
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Published in 2022 at "Hormone research in paediatrics"
DOI: 10.1159/000522230
Abstract: INTRODUCTION Early detection of salt-wasting congenital adrenal hyperplasia (SW-CAH) is important to reduce CAH related morbidity. However, neonatal screening has shown to have a low positive predictive value (PPV), especially among preterm newborns. Here, the…
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Keywords:
adrenal hyperplasia;
congenital adrenal;
introduction;
cah ... See more keywords