Results 1 to 10 of about 28,851 (293)

Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency [PDF]

Journal of Clinical Medicine, 2022
21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in CYP21A2 gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset.
Paola Concolino, Paragliola Rosa Maria, Concolino Paola   +2 more
exaly   +3 more sources

Newborn Screening for CAH—Challenges and Opportunities [PDF]

International Journal of Neonatal Screening, 2021
Newborn screening for congenital adrenal hyperplasia (CAH) using 17-hydroxyprogesterone (17-OHP) as an indicator of disease was first introduced in the 1970s [...]
Natasha L. Heather, Anna Nordenstrom
semanticscholar   +6 more sources

Majority of females with a life-long experience of CAH and parents do not consider females with CAH to be intersex [PDF]

Journal of Pediatric Urology, 2021
To assess opinions of females with CAH, and parents of females with CAH, about designating this population "intersex," particularly in legislation about genital surgery during childhood.We conducted a mixed-methods (quantitative and qualitative) anonymous cross-sectional online survey of females with CAH (46XX, 16+years old) and independently recruited
Konrad M. Szymanski, Richard C. Rink, Benjamin Whittam, Devon J. Hensel, Luis H. Braga, Kelly L. Donahue, Erica A. Eugster, Louise K. Fleming, Heather M. Frady, John S. Fuqua, Mitchell E. Geffner, Devon J. Hensel, Mimi S. Kim, Paul Kokorowski, Oksana Lekarev, Brian D. Leland, Karen Lin-Su, Heino F.L. Meyer-Bahlburg, Todd D. Nebesio, Dix P. Poppas, Phyllis W. Speiser, Konrad M. Szymanski, Richard C. Rink, Jonathan C. Routh, Benjamin Whittam, Rashida Talib, Patrice M. Yasuda   +26 more
semanticscholar   +6 more sources

Digit ratio (2D:4D) and congenital adrenal hyperplasia (CAH): Systematic literature review and meta-analysis

Hormones and Behavior, 2020
The ratio of length between the second and fourth fingers (2D:4D) is commonly used as an indicator of prenatal sex hormone exposure. Several approaches have been used to try to validate the measure, including examining 2D:4D in people with congenital ...
Gideon Nave, Mimi S Kim, Steven James Watson   +2 more
exaly   +2 more sources

Factors affecting the quality of life of adults living with congenital adrenal hyperplasia: a qualitative study of lived experience [PDF]

Endocrine Connections
Objective: Congenital adrenal hyperplasia (CAH) is a genetic condition caused by enzymatic defects of adrenal steroidogenesis. The physical manifestations of CAH are well recognised, but the effects on health-related quality of life (HRQoL) are unclear ...
K Lynette James, Nicola Parkin, Sue Elford, Christine McKnight, Rhiannon Phillips, Timothy Pickles, S Faisal Ahmed, Nils Krone, Sofia Llahana, Michael W O’Reilly, Jeremy W Tomlinson, D Aled Rees   +11 more
doaj   +2 more sources

CAH to CAH [PDF]

Applied Clinical Informatics, 2014
SummaryThe US government allocated $30 billion to implement electronic health records (EHRs) in hospitals and provider practices through policy addressing Meaningful Use (MU). Most small, rural hospitals, particularly those designated as Critical Access Hospitals (CAHs), comprising nearly a quarter of US hospitals, had not implemented EHRs before ...
C K, Craven, M C, Sievert, L L, Hicks, G L, Alexander, L B, Hearne, J H, Holmes   +5 more
openaire   +3 more sources

CAH Newborn Screening in India: Challenges and Opportunities

International Journal of Neonatal Screening, 2020
Congenital adrenal hyperplasia (CAH) is a common treatable disorder which is associated with life-threatening adrenal crisis, sexual ambiguity, and/or abnormal growth if undiagnosed.
Meenakshi Bothra, Aashima Dabas, Seema Kapoor   +2 more
exaly   +2 more sources

Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency [PDF]

Frontiers in Endocrinology
BackgroundDefects in both CYP21A2 and TNXB genes cause congenital adrenal hyperplasia combined with hypermobility-type Ehlers–Danlos syndrome (EDS), which has been named CAH-X syndrome.ObjectiveThis study aimed to determine the frequency of CAH-X within ...
Andrea Sappl, Annie M. Sriramachandran, Christian Lottspeich, Katharina Vill, Monika Morak, Ann-Christin Welp, Orsela Dervishi, Martin Bidlingmaier, Sonja Kunz, Nicole Reisch   +9 more
doaj   +2 more sources

Should CAH in Females Be Classified as DSD? [PDF]

Frontiers in Pediatrics, 2016
Great controversies and misunderstandings have developed around the relatively recently coined term disorders of sex development (DSD). In this article, we question the wisdom of including XX individuals with congenital adrenal hyperplasia (CAH) in the DSD category and develop arguments against it based on the published literature on the subject. It is
Ricardo eGonzález, Barbara Magda Ludwikowski   +1 more
openaire   +4 more sources

Polycystic Ovary Syndrome and NC-CAH: Distinct Characteristics and Common Findings. A Systematic Review

Frontiers in Endocrinology, 2019
Background: Twenty-one-hydroxylase–deficient non-classic adrenal hyperplasia (NC-CAH) is a very common autosomal recessive syndrome with prevalence between 1:1,000 and 1:2,000 individuals and the frequency varies according to ethnicity. On the other hand,
Olga Papalou, Evanthia Diamanti-Kandarakis, Diamanti-Kandarakis Evanthia   +2 more
exaly   +2 more sources