Results 51 to 60 of about 2,714 (169)

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

The FEBS Journal, Volume 293, Issue 15, Page 4554-4577, August 2026.
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo, Lorenza Driul, Vanessa Tolotto, Eros Di Giorgio, Luigi E. Xodo   +4 more
wiley   +1 more source

A de novo mutation in CYP21A2 gene in a case of in vitro fertilization

Molecular Genetics and Metabolism Reports, 2015
Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of the cases are caused by abnormal function of the 21-hydroxylase enzyme. This deficiency leads to androgen excess, consequently, to virilization and rapid somatic
Silva-Grecco, Roseane Lopes da, de Paula Michelatto, Débora, Lincoln-de-Carvalho, Carolina Rodrigues, Henrique, Pamela Pontes, da Cunha, Heloísa Marcelina, Palandi-de-Mello, Maricilda   +5 more
openaire   +3 more sources

Genetic Correlation and Causal Inference Between Female Fat Distribution and Preeclampsia: An Integrative Genomic Study

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
We conducted integrative genomic analyses of large‐scale GWAS summary data to explore the shared polygenic architecture and causal link between female fat distribution (WHRadjBMI) and preeclampsia, identifying novel loci and critical vascular–immune pathways with implications for risk prediction.
Man Wang, Li Huang, Danfeng Zhang, Fengmei Yang, Lihua Wu, Bo Gao   +5 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, Celsa Quinteiro, Fernando Domínguez, Lourdes Loidi   +3 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, Iman Mandour, Noha Musa, Fatma Elmougy, Mona Hafez, Sahar Abdelatty, Amany Ibrahim, Hend Soliman, Bahaaeldin Labib, Yasmine Elshiwy, Tarek Ramzy, Marwa Elsharkawy   +11 more
doaj   +1 more source

CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica

Molecular Genetics and Metabolism Reports, 2021
Steroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenotype-genotype correlation has been well described in previous studies.
Andrés Umaña-Calderón, María José Acuña-Navas, Danny Alvarado, Mildred Jiménez, Fred Cavallo-Aita   +4 more
openaire   +3 more sources

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

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, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +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, Mohammed Azhar Hussain, Syed Mohammed Hussaini, Pasumarthi Tejashree, Karthikeyan Elumalai   +4 more
wiley   +1 more source

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population

Frontiers in Endocrinology, 2023
ObjectiveCongenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the CYP21A2 gene.
Katja K. Dumic, Zorana Grubic, Vesna Kusec, Duje Braovac, Kristina Gotovac, Maja Vinkovic, Maja Vucinic, Miroslav Dumic   +7 more
doaj   +1 more source