Results 41 to 50 of about 75,592 (343)

Specific characteristics of metabolomics as assessed by gas chromatography-mass spectrometry in patients with adrenocortical cancer and with adrenal incidentalomas in congenital adrenal hyperplasia

Alʹmanah Kliničeskoj Mediciny, 2022
Background: Prolonged episodes of uncontrolled congenital adrenal hyperplasia (CAH) have been shown to result in the occurrence of secondary adrenal neoplasms.
Zulfiya R. Shafigullina, Ludmila I. Velikanova, Natalia V. Vorokhobina, Ekaterina V. Malevanaya, Elena G. Strelnikova, Vagan Yu. Bokhian, Timur A. Britvin, Ivan S. Stilidi   +7 more
doaj   +1 more source

Nonclassical 21-Hydroxylase Deficiency [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2006
AbstractContext: Nonclassical congenital adrenal hyperplasia (CAH) owing to steroid 21-hydroxylase deficiency (NC21OHD) is the most frequent of all autosomal recessive genetic diseases, occurring in one in 100 persons in the heterogeneous New York City population. NC21OHD occurs with increased frequency in certain ethnic groups, such as Ashkenazi Jews,
openaire   +1 more source

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

BMC Endocrine Disorders, 2020
Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive group of diseases. 21-Hydroxylase deficiency (21OHD) accounts for between 95 and 99% of all CAH cases. Objectives To characterize the genotype of patients clinically diagnosed with
T. M. Espinosa Reyes, Teresa Collazo Mesa, Paulina Arasely Lantigua Cruz, Adriana Agramonte Machado, Emma Domínguez Alonso, H. Falhammar   +5 more
semanticscholar   +1 more source

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency

BMC Medical Genetics, 2010
Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine ...
Guerra-Júnior Gil, Baptista Maria TM, de Lemos-Marini Sofia HV, Petroli Reginaldo J, Lau Ivy F, Paulino Luciana C, de Araújo Marcela, Bernardi Renan D, Soardi Fernanda C, Coeli Fernanda B, de-Mello Maricilda P   +10 more
doaj   +1 more source

Prior to versus after Metformin Treatment—Effects on Steroid Enzymatic Activities

Life, 2023
Background: We recently reported that metformin administration has substantial effects on steroid hormone concentrations. In this study, we specifically explored which enzymatic activities were affected before a first treatment versus after a time of ...
Benedikt Gasser, Genevieve Escher, Anca-Elena Calin, Michael Deppeler, Miriam Marchon, Hiten D. Mistry, Johann Kurz, Markus G. Mohaupt   +7 more
doaj   +1 more source

Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency

Case Reports in Medicine, 2009
We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was ...
Ingrid Nermoen, Ivar Følling, Kjetil Vegge, Arne Larmo, Bjørn Gunnar Nedrebø, Eystein Sverre Husebye, Kristian Løvås   +6 more
doaj   +1 more source

Region‐to‐Region Unidirectional Connection In Vitro Brain Model for Studying Directional Propagation of Neuropathologies

Advanced Functional Materials, EarlyView.
A unidirectional cerebral organoid–organoid neural circuit is established using a microfluidic platform, enabling controlled directional propagation of electrical signals, neuroinflammatory cues, and neurodegenerative disease–related proteins between spatially separated organoids.
Kyeong Seob Hwang, Hui‐Wen Liu, Hyogeun Shin, Hyun Wook Kang, Minjin Kang, Jongbaeg Kim, Il‐Joo Cho, Nakwon Choi, Seok Chung, Hong Nam Kim   +9 more
wiley   +1 more source

Absence of uterus and presence of verumontanum in a 46 XX patient with Congenital adrenal hyperplasia reared as male: A case report with literature review

Urology Case Reports
Congenital adrenal hyperplasia (CAH) is an inherited disorder causing adrenal hormone imbalance and organ overgrowth, leading to phenotype-genotype mismatches.
Rawa Bapir, Ismaeel Aghaways, Shaho F. Ahmed, Nali H. Hama, Ari M. Abdullah, Soran H. Tahir, Zana B. Najmadden, Fahmi H. Kakamad, Aso N. Qadir, Tomas M. Mikael   +9 more
doaj   +1 more source

Papulocistic lesions of the face: the tip of the iceberg

Senses and Sciences, 2015
Acne is a manifestation of hormonal overstimulation of the pilosebaceous units of genetically susceptible individuals and may manifest in the form of comedonic, papulopustular or nodular lesions. It can present as an isolated disease or in the context of
Nevena Skroza, Sara Zuber, Ersilia Tolino, Ilaria Proietti, Nicoletta Bernardini, Riccardo Pampena, Veronica Balduzzi, Giorgio La Viola, Concetta Potenza   +8 more
doaj   +1 more source

A Male Subject with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Which Was Diagnosed at 31 Years Old due to Infertility

Diagnostics, 2023
Introduction: Congenital adrenal hyperplasia is caused by deficiencies in a number of enzymes involved in hormone biosynthesis in the adrenal glands or sexual glands.
Hideaki Kaneto, Hayato Isobe, Junpei Sanada, Fuminori Tatsumi, Tomohiko Kimura, Masashi Shimoda, Shuhei Nakanishi, Kohei Kaku, Tomoatsu Mune   +8 more
doaj   +1 more source