11beta-hydroxylase deficiency masked by alternative medicines

Area of Science:

• Pediatric Endocrinology
• Biochemical Genetics
• Steroid Metabolism

Background:

• 11beta-hydroxylase deficiency is a rare cause of congenital adrenal hyperplasia, leading to hypertension and precocious puberty.
• Diagnosis can be challenging due to atypical presentations and transient biochemical alterations.

Observation:

• A 3.5-year-old boy presented with precocious pseudopuberty, hypertension, and a resolving skin rash after treatment with traditional Vietnamese medicine.
• Initial investigations revealed prepubertal androgen levels and a normal adrenal ultrasound, but an unidentified peak in the urine steroid profile.
• Discontinuation of medication led to elevated plasma androgens and 11-deoxycortisol, with the disappearance of the unknown peak and appearance of tetrahydro-11-deoxycortisol.

Findings:

• The clinical presentation and subsequent biochemical changes upon medication cessation were indicative of 11beta-hydroxylase deficiency.
• The unidentified urine steroid profile peak was likely a metabolite affected by the medication or the underlying condition.
• The detection of tetrahydro-11-deoxycortisol confirmed the enzyme deficiency.

Implications:

• This case highlights the importance of thorough clinical evaluation and reassessment of biochemical data, especially when discrepancies arise.
• Understanding the impact of traditional medications on steroid profiles is crucial for accurate diagnosis in certain populations.
• Early and accurate diagnosis of 11beta-hydroxylase deficiency is essential for appropriate management and prevention of long-term complications.