Results 11 to 20 of about 17,291 (255)

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
openaire   +4 more sources

Prevalence of nephrocalcinosis in children with congenital adrenal hyperplasia

Journal of Research in Medical Sciences, 2022
Background: We aimed to investigate the prevalence of nephrocalcinosis (NC) among children with diagnosed congenital adrenal hyperplasia (CAH). Our findings would be helpful for earlier diagnosis, management, and prevention of NC-related complications ...
Yahya Madihi, Neda Mostofizadeh, Hossein Shamsipour Dehkordi, Maryam Riahinezhad, Silva Hovsepian, Noushin Rostampour, Elham Hashemi Dehkodi, Mahryar Mehrkash, Tooba Momen, Mahin Hashemipour   +9 more
doaj   +1 more source

Terahertz spectroscopy of CaH

Chemical Physics Letters
Kaori Kobayashi, Fusakazu Matsushima
exaly   +2 more sources

Variation in serum adrenal hormones in female 21-hydroxylase deficient patients

Endocrine Connections, 2022
Background: There is no consensus regarding markers of optimal treatment or timing between glucocorticoid intake and assessment of hormone levels in the follow-up of female 21-hydroxylase deficient patients.
Ditte Sofie Dahl Sørensen, Jesper Krogh, Åse Krogh Rasmussen, Mikkel Andreassen   +3 more
doaj   +1 more source

Changes in resting-state functional connectivity in patients with congenital adrenal hyperplasia

NeuroImage: Clinical, 2022
Context: Patients with congenital adrenal hyperplasia (CAH) are treated with life-long glucocorticoid (GC) replacement therapy. Negative effects on cognition, brain structure and function during working memory tasks have been identified.
Valeria Messina, Annelies van't Westeinde, Nelly Padilla, Svetlana Lajic   +3 more
doaj   +1 more source

Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

International Journal of Neonatal Screening, 2020
Congenital adrenal hyperplasia (CAH) was the fourth disorder added to the national Swedish neonatal screening program in 1986, and approximately 115,000 newborns are screened annually.
Rolf H. Zetterström, Leif Karlsson, Henrik Falhammar, Svetlana Lajic, Anna Nordenström   +4 more
doaj   +1 more source

Factors influencing illness uncertainty in parents of children with congenital adrenal hyperplasia in a developing country: A cross-sectional study

Belitung Nursing Journal, 2023
Background: Illness uncertainty in parents of children with congenital adrenal hyperplasia (CAH) refers to parents’ inability to create meaning in events related to their children having CAH. This may influence their role in caring for children with CAH.
Irene Astrid Larasati, Fanti Saktini, Tri Indah Winarni, Annastasia Ediati, Agustini Utari   +4 more
doaj   +1 more source

Dynamic testing for evaluation of adrenal and gonadal function in pediatric and adult endocrinology: An overview

Indian Journal of Endocrinology and Metabolism, 2019
Dynamic tests are often considered as the backbone of endocrinology. These tests involve the use of an exogenous agent to manipulate the body's hormonal milieu for the diagnosis and characterization of an endocrine disorder.
Alpesh Goyal, Suraj Kubihal, Yashdeep Gupta, Viveka P Jyotsna, Rajesh Khadgawat   +4 more
doaj   +1 more source

Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]

, 2010
Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
W. Bonfig, H.P. Schwarz, Bonfig, W., Schwarz, H. P.   +3 more
core   +1 more source

Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review

Sexes, 2023
Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in adrenal steroid biosynthesis. In about 90% of patients, CAH is caused by pathogenetic variants in CYP21A2 gene, impairing the function of 21 ...
Giulia Bertolucci, Nina Tyutyusheva, Margherita Sepich, Fulvia Baldinotti, Maria Adelaide Caligo, Maria Rita Sessa, Diego Giampiero Peroni, Silvano Bertelloni   +7 more
doaj   +1 more source