Results 51 to 60 of about 5,009 (204)
BMC Medical Genetics, 2018 Background Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2.
Yılmaz Kor +5 more
doaj +1 more source
Congenital adrenal hyperplasia in the adult women: management of old and new challenges [PDF]
, 2014 Due to major improvements in the management and therapy of patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (21OHD) along childhood and adolescence, affected women are able to reach adulthood.
Costa-Barbosa, Flávia A. +2 more
core +3 more sources
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
The Journal of Reproduction and Development, 2020 We investigated gene expression profiles of the corpus luteum (CL) at the time of maternal recognition to evaluate the functional changes of the CL during early pregnancy in cows and help improve reproductive efficiency and avoid defective fetuses ...
Ryosuke SAKUMOTO +4 more
doaj +1 more source
Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children
Frontiers in Genetics, 2022 Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the CYP21A2 gene, with 21-hydroxylase deficiency (21-OHD) as the most common type.
Aisha Tolba +11 more
doaj +1 more source
Congenital Adrenal Hyperplasia in Adults [PDF]
, 2010 Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting adrenal steroid synthesis. More than 95% of CAH cases are caused by reduced 21-hydroxylase function leading to variable extent of cortisol and aldosterone deficiency in ...
Falhammar, Henrik
core +1 more source
Presentation and Management of Addison's Disease in a 10‐Year‐Old Boy: A Case Report
iLABMED, Volume 4, Issue 1, Page 59-63, March 2026.ABSTRACT Addison's disease, or primary adrenal insufficiency, is a rare endocrine disorder characterized by impaired adrenal hormone production. We report a case of a 10‐year‐old boy with congenital adrenal hyperplasia and secondary Addison's disease on long‐term corticosteroid therapy who presented with recurrent non‐bilious vomiting, low‐grade fever,
Srinivasan Sivannan +4 more
wiley +1 more source
High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. [PDF]
PLoS ONE, 2008 The systematic study of the human genome indicates that the inter-individual variability is greater than expected and it is not only related to sequence polymorphisms but also to gene copy number variants (CNVs).
Silvia Parajes +3 more
doaj +1 more source
Ultralow-dose dexamethasone to preserve endogenous cortisol stress response in nonclassical congenital adrenal hyperplasia: A new promising treatment [PDF]
, 2014 Introduction: Nonclassical congenital adrenal hyperplasia (CAH) is characterized by sufficient cortisol and aldosterone production at the cost of androgen overproduction.
Akker, E.L.T. (Erica) van den +1 more
core +1 more source
Advanced Science, Volume 13, Issue 9, 13 February 2026.This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li +22 more
wiley +1 more source