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Patients presented with hypospadias, micropenis, undescended testes, or infertility. In this study, we report a new patient with compound heterozygous variants in the\n                      <jats:italic>LHCGR<\/jats:italic>\n                      gene and LCH type II phenotype. Methods: Whole exome sequencing (WES) was performed followed by Sanger sequencing to confirm the detected variants in the patient and his parents. Results: A novel missense variant (p.Phe444Cys) was identified in a highly conserved site and is verified to be in trans with the signal peptide\u2019s 33-bases insertion variant. Conclusion: Our research provides a more comprehensive clinical and genetic spectrum of Leydig cell hypoplasia type II. It highlighted the importance of WES in the diagnosis of this uncommon genetic disorder as well as the expansion of the genotype of LCH type II.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s42000-024-00546-x","type":"journal-article","created":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T05:02:14Z","timestamp":1711342934000},"page":"305-312","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II"],"prefix":"10.1007","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9567-0896","authenticated-orcid":false,"given":"Heba Amin","family":"Hassan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inas","family":"Mazen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aya","family":"Elaidy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alaa K","family":"Kamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noura R.","family":"Eissa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona L.","family":"Essawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,25]]},"reference":[{"key":"546_CR1","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1515\/jpem-2021-0717","volume":"35","author":"A Alla","year":"2022","unstructured":"Alla A, Ongoth FEM, Tahiri A, Karrou M, Rouf S, Benhaddou H, Kamaoui I, McElreavey K, Latrech H (2022) Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family. 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The study protocol was reviewed and approved by the Medical Research Ethics Committee (MREC) of the NRC.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"According to the Medical Research Ethics Committee (MREC) of the NRC, written informed consent was taken from contributing subjects or from the authorized guardian approving participation in this study and publication of their data in a scientific journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate and for publication statement"}},{"value":"The authors have no conflicts of interest to declare.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}