Article

Case Report: Neonatal Presentation of Congenital Adrenal Hyperplasia Accompanied by Isolated Cleft Palate

2024-07-16

Abstract excerpt

<title>Abstract</title> <p><bold>Introduction:</bold> Congenital adrenal hyperplasia (CAH), particularly due to 21-hydroxylase deficiency, is an autosomal recessive disorder characterized by impaired cortisol synthesis, leading to severe clinical manifestations such as adrenal crises and atypical genitalia in 46,XX neonates. Isolated cleft palate (ICP) is a congenital anomaly resulting from incomplete palatal she...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 16a86309-1de9-5871-8618-babe267e0e33
DOI: 10.21203/rs.3.rs-4511218/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Case Report: Neonatal Presentation of Congenital Adrenal Hyperplasia Accompanied by Isolated Cleft PalateDOI 10.21203/rs.3.rs-4511218/v1Read

Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.Semantic proximity Read

An update of congenital adrenal hyperplasia.Semantic proximity Read

Congenital adrenal hyperplasia.Semantic proximity Read

Classic virilizing congenital adrenal hyperplasia presenting late: case series from Pakistan.Semantic proximity Read

Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis.Semantic proximity Read

Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.Semantic proximity Read

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguitySemantic proximity Read

Congenital adrenal hyperplasia in Saudi Arabia: Epidemiology, genetic mutations, and evolving management strategies.Semantic proximity Read

Severe Hyperandrogenism in 46,XX Congenital Adrenal Hyperplasia: Molecular Physiopathology, Late Diagnoses, and Personalized Management.Semantic proximity Read

Aldosterone signaling defect in young infants: single-center report and review.Semantic proximity Read

Genetic Aetiology of Primary Adrenal Insufficiency in Chinese ChildrenSemantic proximity Read

Clinical and molecular review of atypical congenital adrenal hyperplasiaSemantic proximity Read