Results 41 to 50 of about 71,266 (366)

Compliance Issues in Managing 21 Hydroxylase Deficiency and their Short/Long-Term Consequences

European Journal of Case Reports in Internal Medicine, 2021
Objective: To report a case of untreated classic 21 hydroxylase (OH) deficiency congenital adrenal hyperplasia (CAH) in a transgender patient resulting in pulmonary embolisms (PEs) and bilateral adrenal masses.
Jack Lin, Teck K Khoo, Erin R Voelschow, Zachary J Viets   +3 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   +2 more sources

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]

, 2010
Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi, Antley, Arlt, Auchus, Belgorosky, Birgit Köhler, Bulun, Byskov, Cedric H. L. Shackleton, Dharia, Dhir, Dominique Maiter, Ewa M. Malunowicz, Falhammar, Felicity Collins, Flück, Fujieda, Fukami, Fukami, Fukami, Grondahl, Grøndahl, Hague, Huang, Huang, Idkowiak, Jan Idkowiak, Jin, Krone, Latronico, Luitgard Margarete Graul-Neumann, Mallin, Mann, Maria Szarras-Czapnik, Martin Silink, Mehul Dattani, Michiel N. Kerstens, Mullis, New, Nguyen, Nicole Reisch, Nils Krone, Otto, Ribes, Rosa, Roux, Rozman, Sahakitrungruang, Schmidt, Shackleton, Shima, Stephen O'Riordan, Suzuki, Tanae, ten Kate-Booij, Tomalik-Scharte, Wang, Wang, Wiebke Arlt, Wilson   +59 more
core   +2 more sources

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Frontiers in Endocrinology, 2023
ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia ...
Robert Saho, Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Magdalena Avbelj Stefanija, Primoz Kotnik, Primoz Kotnik, Tadej Battelino, Tadej Battelino, Zuzana Pribilincova, Urh Groselj, Urh Groselj   +21 more
doaj   +1 more source

MOLECULAR PATHOLOGY OF 21-HYDROXYLASE DEFICIENCY [PDF]

Pediatric Research, 1993
Pathological mutations in steroid 21-hydroxylase deficiency appear to derive exclusively from sequence exchange between the 21-hydroxylase gene (CYP21B) and a closely related pseudogene (CYP21A), located 30 kb telomeric to CYP21B and functionally inactive because of several mutations distributed along its length.
May Tassabehji, May Tassabehji, S Collier, S Collier, T Strachan, T Strachan, P J Sinnott, P J Sinnott   +7 more
openaire   +2 more sources

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

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

Location of the gene for 21-hydroxylase deficiency [PDF]

Pediatric Research, 1979
We have studied 34 families in whom the propositus had CAH and confirm the original observation (1) that the gene responsible is closely related to the HLA loci. In one family the paternal HLA antigens were A1 B8, B37, DRW5 and the maternal antigens A3, A9, CW3, CW5 B12, B40, DRW1, DRW5.
M A Reynolds, K Gelsthorpe, V Pucholt, J S Fitzsimmons   +3 more
openaire   +2 more sources

Finite groups of arbitrary deficiency [PDF]

Bull. London Math. Soc. 49 (2017) 1100-1104, 2017
The deficiency of a group is the maximum over all presentations for that group of the number of generators minus the number of relators. Every finite group has non-positive deficiency. We show that every non-positive integer is the deficiency of a finite group -- in fact, of a finite $p$-group for every prime $p$.
arxiv   +1 more source

An XX male with 21-hydroxylase deficiency [PDF]

Pediatric Research, 1981
The patient is the second child of healthy unrelated parents,his older brother is normal. At birth the genitalia were ambiguous; the phallus was adequate in size but there was chordee and perineal hypospadias. The labio-scrotal folds were fused. Gonads were palpable in both groins. The karyotype (blood and skin) was normal female XX.
D B Grant, N D Barnes
openaire   +1 more source