ESPE Abstracts

The Wilms' Tumour (WT1) gene is thought to play an important role in nephrogenesis, genitourinary development, and sex determination. We report three cases followed up in a tertiary care center in Sri Lanka. All three patients were referred for evaluation of ambiguous genitalia (stretched penile length <= 2cm, penoscrotal hypospadiasis in all three patients. Patient one had bilateral palpable testes in inguinal canal. Patients two and three did not have any palpable testes) in the neonatal period. Their karyotypes revealed 46, XY. After exclusion of other conditions, the patient 1 was screened and was positive for WT1 mutation. Later, he developed nephrotic range proteinuria and hypertension. His renal biopsy showed moderate tubular atrophy with glomerulosclerosis. He is currently on multiple immunosuppressants, including biologics and is followed up closely by a Paediatric nephrologist. In patient 2, an ultrasound scan (USS) revealed the presence of Mullerian structures and pelvic testes. Echocardiogram showed evidence of osteum secondum atrial septal defect. He was lost to follow up for a short period and he presented with edema and proteinuria after a respiratory tract infection and a clinical diagnosis of WT1 mutation association was made. He unfortunately succumbed to acute renal failure. Patient 3 had USS findings of persistent Mullerian structures and undescended testes. Gonadal biopsy revealed bilateral testicular tissues and it was decided to register him as a boy. Bilateral orchidopexy was done. Routine screening revealed microalbuminuria. His proteinuria is currently being managed conservatively under a Paediatric Nephrologist. Genetic testing is pending for patients 2 and 3. None of these patients had Wilms tumor on serial USS monitoring of kidneys. WT1 mutation is a rare, but important differential diagnosis in 46 XY, disorders of sexual development (DSD). Routine periodical clinical and biochemical screening as well as serial radiological assessment for this association may be lifesaving in patients with 46 XY, DSD where genetic testing is not feasible.