Author Login

Correspondence to Author: Diakité AA¹,Traoré Fousseyni¹,Maiga B¹, Sacko K¹,Traoré B¹,Traore K¹,Togo P¹,Dicko-Traoré F¹,Togo B¹, Sylla M¹. 

Paediatric department, Gabriel Toure hospital, Bamako-Mali

DOI: 10.52338/jocp.2025.5251

Abstract:

We report a case of a 07-year-old child admitted to the pediatric emergency department of CHU Gabriel Touré for oedemato-ascitic syndrome. At admission, constants were as follows: temperature 37°C, heart rate 122/min, respiratory rate 40/min, blood pressure 130/90 mmHg. The child weighed 23 kg and measured 120 cm. His head circumference was 42 cm. There was mild pallor, facial swelling and oedema of the lower limbs. Pseudoscrotal fused genital bulges were present, without the testicles inside. The urethral meatus at the level of the glans was absent. The hypospadias was scrotal. Sexual ambiguity corresponded to Prader stage 5. Urine dipstick showed four-cross proteinuria. Proteinuria of 104 mg/kg/24h (2.4g/kg/24h) led to the diagnosis of nephrotic syndrome. The blood albumin level had dropped to 26g/l, with haematological (Hb: 8g/ dl) and renal (creatinine 850 µmol/l, i.e. 16XN; urea 40 mmol/l) findings. ATL - SRY gene testing by PCR-multiplex on whole blood revealed XY in favour of male sex. The onset of nephrotic syndrome in a sexually ambiguous setting prompted us to consider Denys-Drash syndrome. The patient received four sessions of hemodialysis. Prednisone-based corticosteroid therapy (60mg/m2/d) was initiated. On day 2 of treatment, the urine strip showed proteinuria at four points. On the third day of corticosteroid therapy, the patient developed malignant hypertension (BP= 16/11 mm Hg), anuria and moderate epistaxis. He died two hours later.
Conclusion: A nephrotic syndrome occurring in a sexually ambiguous presentation should suggest Denys-Drash syndrome. The prognosis of this genetic disorder is poor.

Keywords: nephrotic syndrome, sexual ambiguity, Denys-Drash syndrome.

Citation:

Dr. Traoré Fousseyni, A Case Of Nephrotic Syndrome In A Context Of Sexual Ambiguity. Journal of Clinical Pediatrics 2025.