Abstract：To explore the clinical characteristics and gene mutation features of 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency in children to provide ideas for clinical diagnosis and treatment, this paper analyzes the clinical characteristics, hormone levels detection results and gene mutations of a child with 3β-HSD deficiency in the department of genetics and endocrinology of Guangzhou Women and Children Medical Center, and relevant literatures were reviewed.In this case, the child visited doctor for skin hyperpigmentation and clitorimegaly.B-ultrasound showed uterine, ovarian tissue.The karyotype is 46XX.The hormone levels showed rising of blood adrenocorticotrophic hormone(ACTH), decrease of blood cortisol (F), and increase of dehydroepiandrosterone sulfate (DHEAs).HSD3B2 gene homozygous missense mutation was due to the amino acid at position 228 changing from valine to methionine.Children with 3β-HSD deficiency may exhibit salt wasting phenotype and masculinization, which are not easily differentiated from other types of congenital adrenal hyperplasia.Increased △5 steroids and increase of △5/Δ4 steroids suggest possible 3β-HSD deficiency, which can be further confirmed by genetic testing.
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