دورية أكاديمية
أعرض في EDS

Spectrum of Genital and Extragenital Anomalies in Malformation Syndromes Associated With 46, XY Disorders of Sex Development: A Single Center Experience.

التفاصيل البيبلوغرافية
العنوان: Spectrum of Genital and Extragenital Anomalies in Malformation Syndromes Associated With 46, XY Disorders of Sex Development: A Single Center Experience.
المؤلفون: Raafat S; Department of Pediatric Endocrinology, Alexandria Faculty of Medicine, Alexandria, Egypt., Abdelmeguid Y; Department of Pediatric Endocrinology, Alexandria Faculty of Medicine, Alexandria, Egypt., Kotb M; Department of Pediatric Surgery, Alexandria Faculty of Medicine, Alexandria, Egypt. Correspondence to: Dr. Mostafa Kotb, Lecturer, Department of Pediatric Surgery, Alexandria Faculty of Medicine, Alexandria, Egypt 21615 mostafa.rashad@alexmed.edu.eg., Oshiba A; Department of Pediatric Surgery, Alexandria Faculty of Medicine, Alexandria, Egypt.
المصدر: Indian pediatrics [Indian Pediatr] 2024 Jun 15; Vol. 61 (6), pp. 551-557. Date of Electronic Publication: 2024 Apr 05.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Indian Pediatrics Country of Publication: India NLM ID: 2985062R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0974-7559 (Electronic) Linking ISSN: 00196061 NLM ISO Abbreviation: Indian Pediatr Subsets: MEDLINE
أسماء مطبوعة: Publication: New Delhi : Indian Pediatrics
Original Publication: Bombay.
مواضيع طبية MeSH: Disorder of Sex Development, 46,XY*/diagnosis , Disorder of Sex Development, 46,XY*/genetics , Disorder of Sex Development, 46,XY*/epidemiology, Humans ; Male ; Female ; Retrospective Studies ; Child ; Infant ; Child, Preschool ; Egypt/epidemiology ; Adolescent ; Infant, Newborn ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/epidemiology
مستخلص: Objectives: This study aimed at integrating the clinical and phenotypic characteristics, hormonal profile and genetic diagnosis of children with malformation syndromes associated with XY disorders of sex development (DSD) in a single-center in Egypt.
Methods: This retrospective study included patients with syndromic XY DSD recruited from the Pediatric Endocrinology and Surgery units at Alexandria University Children's Hospital (AUCH), Alexandria, Egypt, between 2018 and 2023. All patients included in the study underwent a detailed clinical and laboratory evaluation, ultrasonography (and laparoscopy if needed).
Results: The study included 30 children with syndromic XY DSD; most of these children were diagnosed at birth. The most common extragenital malformations included skeletal anomalies (70%), facial dysmorphism (46.7%), cerebral malformations (30%) and congenital heart disease (23.3%). Ventricular septal defect was the most common congenital heart disease.
Conclusion: Integration between clinical, laboratory and genetic data is the cornerstone in the management of XY DSD patients for appropriate decision making of surgical intervention and sex assignment, in addition to screening for other associated features of each mutation.
تواريخ الأحداث: Date Created: 20240408 Date Completed: 20240614 Latest Revision: 20240614
رمز التحديث: 20240614
PMID: 38584411
قاعدة البيانات: MEDLINE
الوصف
تدمد:0974-7559