{"doi":"10.1111/nyas.13540","title":"<i>CYP21A2</i> genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge","abstract":"<jats:title>Abstract</jats:title><jats:p><jats:italic>CYP21A2</jats:italic> genotyping remains an important element in the diagnosis and management of congenital adrenal hyperplasia, and establishing accurate genotype–phenotype correlations has facillitated adequate genetic counseling and prenatal management for at‐risk families. Despite extensive efforts to establish a clear genotype–phenotype correlation, some discordance remains. Establishing a diagnosis of congenital adrenal hyperplasia on the basis of biochemical and clinical data is occasionally challenging, and the identification of <jats:italic>CYP21A2</jats:italic> mutations may help confirm the diagnosis. We review the diagnostic challenges despite an extensive genetic evaluation for 14 patients with a suspected clinical and biochemical diagnosis of congenital adrenal hyperplasia. Other diagnostic entities should be considered in the absence of convincing genetic data.</jats:p>","journal":"Annals of the New York Academy of Sciences","year":2018,"id":648567,"datarank":0.49297884378327816,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.20109232142498115,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.20109232142498115,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":5,"citers_with_citation_signal":4,"citers_with_endowment":4,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1690285,"name":"Sahar Sharaf","orcid":null,"position":1,"is_corresponding":false},{"id":1690287,"name":"Mona Hafez","orcid":null,"position":2,"is_corresponding":false},{"id":349926,"name":"Ahmed Khattab","orcid":"0000-0002-7253-199X","position":3,"is_corresponding":false},{"id":1690289,"name":"Hazem Abou‐Yousef","orcid":null,"position":4,"is_corresponding":false},{"id":1690291,"name":"Marwa Elsharkawy","orcid":null,"position":5,"is_corresponding":false},{"id":1690293,"name":"Heba Baz","orcid":null,"position":6,"is_corresponding":false},{"id":1690295,"name":"Sherif Ekladious","orcid":null,"position":7,"is_corresponding":false},{"id":1690297,"name":"Balsam Sherif","orcid":null,"position":8,"is_corresponding":false},{"id":1690298,"name":"Noha Musa","orcid":null,"position":9,"is_corresponding":false},{"id":1690299,"name":"Yasmin Elshiwy","orcid":null,"position":10,"is_corresponding":false},{"id":1690300,"name":"Alaa Afif","orcid":null,"position":11,"is_corresponding":false},{"id":1690301,"name":"Mona Abdullatif","orcid":null,"position":12,"is_corresponding":false},{"id":1690302,"name":"Ghada Thabet","orcid":null,"position":13,"is_corresponding":false},{"id":1690303,"name":"Normeen Rady","orcid":null,"position":14,"is_corresponding":false},{"id":1177094,"name":"Amany Ibrahim","orcid":"0009-0002-3276-3988","position":15,"is_corresponding":false},{"id":1690304,"name":"Hend Soliman","orcid":null,"position":16,"is_corresponding":false},{"id":1690283,"name":"Fatma Elmougy","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"<i>CYP21A2</i> genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge","abstract":"<jats:title>Abstract</jats:title><jats:p><jats:italic>CYP21A2</jats:italic> genotyping remains an important element in the diagnosis and management of congenital adrenal hyperplasia, and establishing accurate genotype–phenotype correlations has facillitated adequate genetic counseling and prenatal management for at‐risk families. Despite extensive efforts to establish a clear genotype–phenotype correlation, some discordance remains. Establishing a diagnosis of congenital adrenal hyperplasia on the basis of biochemical and clinical data is occasionally challenging, and the identification of <jats:italic>CYP21A2</jats:italic> mutations may help confirm the diagnosis. We review the diagnostic challenges despite an extensive genetic evaluation for 14 patients with a suspected clinical and biochemical diagnosis of congenital adrenal hyperplasia. Other diagnostic entities should be considered in the absence of convincing genetic data.</jats:p>","is_dataset_classified":null,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"29266270","pmcid":null,"openalex_id":"https://openalex.org/W2780461556","authors":[],"funders":[{"funder_name":"Science and Technology Development Fund","grant_id":"4671","title":null}],"total_grants":1,"fwci":0.1013,"citation_percentile":0.48958709,"influential_citations":0,"citation_trend":[{"year":2020,"count":1},{"year":2021,"count":1},{"year":2022,"count":1},{"year":2023,"count":1},{"year":2024,"count":1},{"year":2025,"count":1}],"oa_status":"closed","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fnyas.13540","host_type":"publisher"},{"url":"https://nyaspubs.onlinelibrary.wiley.com/doi/pdf/10.1111/nyas.13540","host_type":"publisher"},{"url":"https://doi.org/10.1111/nyas.13540","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/29266270","host_type":"repository"}],"fields_of_study":["Sexual Differentiation and Disorders","Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","Growth Hormone and Insulin-like Growth Factors"],"mesh_terms":["Genetic Profile","Adrenal Hyperplasia, Congenital","Child, Preschool","DNA Mutational Analysis","Egypt","Exons","Female","Humans","Infant","Infant, Newborn","Introns","Male","Mutation","Disorders of Sex Development","Steroid 21-Hydroxylase","Genetic Association Studies"],"keywords":["Congenital adrenal hyperplasia","Genotyping","Genetic counseling","Medicine","Genetic diagnosis","Prenatal diagnosis","Hyperplasia","Genotype","Genotype-phenotype distinction","Phenotype","Pediatrics","Pathology","Bioinformatics","Genetics","Pregnancy","Internal medicine","Biology","Fetus","Gene","Adrenal","Cyp21a2"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-10T02:45:33.107190Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}