Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
Sign Up to like & getrecommendations! 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
Adrenal myelolipoma in association with congenital adrenal hyperplasia
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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
Comparing outcomes between patients transferred from a critical access hospital versus directly from scene to a level 1 trauma center.
Sign Up to like & getrecommendations! 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
Routine histologic features in complex atypical hyperplasia can predict the presence of endometrial carcinoma: a clinicopathological study of 222 cases.
Sign Up to like & getrecommendations! 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
Pregnancy, delivery and neonatal outcomes among women with congenital adrenal hyperplasia: a study of a large US database.
Sign Up to like & getrecommendations! 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
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
Sign Up to like & getrecommendations! 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)
Sign Up to like & getrecommendations! 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
A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase
Sign Up to like & getrecommendations! 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
GP39 A case series of suspected congenital adrenal hyperplasiain one week in a regional endocrine unit
Sign Up to like & getrecommendations! 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)
Sign Up to like & getrecommendations! 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
Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience.
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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