Abstract

We report a novel missense variant of the HSD3B2 gene in a 46,XY child born to third degree consanguineous parents presenting with undervirilization and progressive hyperpigmentation. The steroid profile showed elevated concentrations of 17-hydroxyprogesterone, but normal androstenedione and testosterone. The adrenocorticotropic hormone was elevated. The direct DNA sequencing of the child revealed a new homozygous missense variant in the HSD3B2 gene, resulting in the amino acid substitution of proline for leucine at codon 197. We have described a hitherto novel HSD3B2 gene variant in an undervirilized male infant causing 3β-hydroxysteroid dehydrogenase 2 deficiency.

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