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Mutations in various genes can impede gonadal development, hormone synthesis, or hormone function and cause DSD.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Exome sequencing was performed for two siblings with 46,XY DSD. All mutations identified by exome sequencing were confirmed by Sanger sequencing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The 13-month-old younger sibling had a female appearance of the external genital with a clitoris that was assessed as Prader III and scored 2 in the external masculinization score evaluative test. The 16-year-old elder sibling had severe hypospadias. Exome sequencing revealed compound heterozygous mutations in exon 3 of <jats:italic>DHH<\/jats:italic> in the siblings with 46,XY DSD. The frameshift mutation (NM_021044.3: c.602delC) was derived from the father and was predicted to be deleterious. The (c.937G\u2009&gt;\u2009T) substitution mutation was derived from the mother.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Novel compound heterozygous mutations of <jats:italic>DHH<\/jats:italic> led to 46,XY DSD in two siblings. This study expands the phenotypic mutation spectra of <jats:italic>DHH<\/jats:italic> in patients with 46,XY DSD.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01334-5","type":"journal-article","created":{"date-parts":[[2022,8,15]],"date-time":"2022-08-15T05:03:22Z","timestamp":1660539802000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development"],"prefix":"10.1186","volume":"15","author":[{"given":"Jia","family":"Wei","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaqi","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Ru","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangjie","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2103-4931","authenticated-orcid":false,"given":"Daxing","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,8,15]]},"reference":[{"key":"1334_CR1","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.pedn.2017.08.032","volume":"37","author":"DM Bakula","year":"2017","unstructured":"Bakula DM, Sharkey CM, Wolfe-Christensen C, Mullins AJ, Meyer J, Mullins LL, Wisniewski AB. 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Written informed consent to participate was obtained from all of the participants aged 16 and over. For patients younger than 16\u00a0years of age, written informed consent was obtained from the parents\/guardians of the patient. A copy of the written consent is available for review by the editor of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient or parents\/guardians of the patient for publication of clinical details and\/or clinical images.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"178"}}