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Internal and external genital phenotypes frequently seen in <jats:italic>CHD7<\/jats:italic> disorder include cryptorchidism and micropenis in males, and vaginal hypoplasia in females, both thought to be secondary to hypogonadotropic hypogonadism. Here, we report 14 deeply phenotyped individuals with known <jats:italic>CHD7<\/jats:italic> variants (9 pathogenic\/likely pathogenic and 5 VOUS) and a range of reproductive and endocrine phenotypes. Reproductive organ anomalies were observed in 8 of 14 individuals and were more commonly noted in males (7\/7), most of whom presented with micropenis and\/or cryptorchidism. Kallmann syndrome was commonly observed among adolescents and adults with <jats:italic>CHD7<\/jats:italic> variants. Remarkably, one 46,XY individual presented with ambiguous genitalia, cryptorchidism with M\u00fcllerian structures including uterus, vagina and fallopian tubes, and one 46,XX female patient presented with absent vagina, uterus and ovaries. These cases expand the genital and reproductive phenotype of <jats:italic>CHD7<\/jats:italic> disorder to include two individuals with genital\/gonadal atypia (ambiguous genitalia), and one with M\u00fcllerian aplasia.<\/jats:p>","DOI":"10.1002\/ajmg.a.63148","type":"journal-article","created":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T10:31:01Z","timestamp":1676543461000},"page":"1418-1424","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Expanding the reproductive organ phenotype of <i>CHD7<\/i>\u2010spectrum disorder"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7300-9311","authenticated-orcid":false,"given":"Tomoki T.","family":"Nomakuchi","sequence":"first","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melinda","family":"Danowitz","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Children's Hospital of Philadelphia  Philadelphia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blythe","family":"Stewart","sequence":"additional","affiliation":[{"name":"Human Genetics Unit University of Edinburgh  Edinburgh Scotland United\u00a0Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline","family":"Leonard","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kosuke","family":"Izumi","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian","family":"Krantz","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas F.","family":"Kolon","sequence":"additional","affiliation":[{"name":"Division of Urology Children's Hospital of Philadelphia  Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Langdon","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Children's Hospital of Philadelphia  Philadelphia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cara","family":"Skraban","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1592-7824","authenticated-orcid":false,"given":"Jason","family":"Van Batavia","sequence":"additional","affiliation":[{"name":"Division of Urology Children's Hospital of Philadelphia  Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Jiao","sequence":"additional","affiliation":[{"name":"Center for Biotechnology &amp; 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