Overview
SERKAL syndrome is an autosomal recessive disorder characterized by 46,XX sex reversal and dysgenesis affecting the kidneys, adrenals, and lungs. Additional features may include ventricular septal defect (VSD), congenital diaphragmatic hernia (CDH), and orofacial clefting (OFC) 1.Diagnosis
Genetic Testing: Identification of biallelic variants in WNT4 gene 1.
Imaging Studies:
- Ultrasound: To detect renal, adrenal, and lung dysgenesis in fetuses 1.
- Cardiac Ultrasound: For assessment of VSD and diaphragmatic abnormalities 1.
Clinical Features: Presence of sex reversal, renal insufficiency, adrenal dysfunction, and pulmonary hypoplasia 1.Management
Supportive Care: Multidisciplinary approach including pediatric nephrology, cardiology, pulmonology, and surgery for congenital anomalies 1.
Specific Interventions:
- Surgical Repair: For VSD and congenital diaphragmatic hernia 1.
- Renal Replacement Therapy: As needed for severe renal dysfunction 1.
- Hormonal Support: For adrenal insufficiency 1.Special Populations
Pregnancy: Prenatal ultrasound screening for affected fetuses in consanguineous families 1.
Pediatrics: Early multidisciplinary management addressing renal, cardiac, and respiratory issues 1.Key Recommendations
Genetic Testing for WNT4 Variants in patients presenting with sex reversal and multiple organ dysgenesis (Evidence: Strong 1).
Comprehensive Imaging including cardiac, renal, and pulmonary assessments in suspected cases (Evidence: Moderate 1).
Multidisciplinary Care Team involvement for comprehensive management of SERKAL syndrome (Evidence: Expert opinion 1).References
1 Hernández-García A, Kim BJ, Chitayat D, Shannon P, Hedges S, Al Bandari M et al.. WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models. Developmental biology 2026. link