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We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the HSD3B2 gene (c.779C &amp;gt; T\/p.Pro260Leu and c.307 + 1G &amp;gt; A\/p.Gly103Asp,fs29X). The disease-causing effect of the novel variants was assessed by genetic and functional studies informing on positive genotype-phenotype correlation. Sex registration was female, and no gender dysphoria has been noted until the present age of 7 years, but psychological assessments have been difficult with a concomitant diagnosis of autism spectrum disorder. Virilization that already progresses prepubertally through peripheral conversion of androgen precursors by 3\u03b2-hydroxysteroid dehydrogenase 1 will pose an increasing challenge during puberty.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae245","type":"journal-article","created":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T08:14:13Z","timestamp":1737360853000},"source":"Crossref","is-referenced-by-count":2,"title":["Ambiguous Genitalia Due to 3\u03b2-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel <i>HSD3B2<\/i> Variants"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6076-1512","authenticated-orcid":false,"given":"Jani","family":"Liimatta","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital , 3010 Bern ,","place":["Switzerland"]},{"name":"Department of BioMedical Research (DBMR), University of Bern , 3012 Bern 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