Articles with "cah" as a keyword



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Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.

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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… read more here.

Keywords: chimera; cyp21a2; cyp21a1p cyp21a2; cah ... See more keywords
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Adrenal myelolipoma in association with congenital adrenal hyperplasia

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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… read more here.

Keywords: adrenal myelolipoma; adrenal gland; adrenal hyperplasia; myelolipoma ... See more keywords
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Comparing outcomes between patients transferred from a critical access hospital versus directly from scene to a level 1 trauma center.

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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)… read more here.

Keywords: critical access; level trauma; trauma center; trauma ... See more keywords
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Routine histologic features in complex atypical hyperplasia can predict the presence of endometrial carcinoma: a clinicopathological study of 222 cases.

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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… read more here.

Keywords: adca; cah; complex atypical; atypical hyperplasia ... See more keywords
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Pregnancy, delivery and neonatal outcomes among women with congenital adrenal hyperplasia: a study of a large US database.

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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… read more here.

Keywords: pregnancy; adrenal hyperplasia; cah; database ... See more keywords
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Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.

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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… read more here.

Keywords: adrenal hyperplasia; analysis; cah; congenital adrenal ... See more keywords

Sperm cryopreservation in young males with congenital adrenal hyperplasia (CAH)

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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… read more here.

Keywords: adrenal hyperplasia; hyperplasia cah; cah; congenital adrenal ... See more keywords
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A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase

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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… read more here.

Keywords: cyp21a2; variant; cah; site ... See more keywords
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GP39 A case series of suspected congenital adrenal hyperplasiain one week in a regional endocrine unit

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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… read more here.

Keywords: mmol; week; fludrocortisone; case ... See more keywords

Hysterectomy in a phenotypic male with congenital adrenal hyperplasia (CAH)

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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… read more here.

Keywords: adrenal hyperplasia; hyperplasia cah; hysterectomy phenotypic; cah ... See more keywords
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Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience.

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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… read more here.

Keywords: adrenal hyperplasia; congenital adrenal; introduction; cah ... See more keywords