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September 24, 2025Open Access

A rare case of 21-hydroxylase deficiency presenting as precocious puberty in a male child

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Case report describes how 21-hydroxylase deficiency led to hormonal imbalance in a male child, highlighting lack of screening.

A 9-year-old boy with 21-hydroxylase deficiency presented with precocious puberty symptoms and low hormone levels.
Biochemical tests showed elevated testosterone and 17-OH progesterone, confirming the diagnosis of congenital adrenal hyperplasia.
Radiological scans revealed normal adrenal glands but noted adrenal rests, indicating hormonal dysfunction.
The study emphasizes the need for improved screening in low-and-middle-income countries to prevent delayed diagnoses.

Satekge et al. (2025) studied this question.

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