{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T17:05:52Z","timestamp":1784826352940,"version":"3.55.0"},"reference-count":11,"publisher":"Bioscientifica","issue":"2","license":[{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,4,1]]},"abstract":"\n Summary<\/jats:title>\n \n Kallmann syndrome (KS) is a genetically heterogeneous condition characterized by hypogonadotropic hypogonadism with coexisting anosmia or hyposmia along with potential other phenotypic abnormalities depending on the specific genetic mutation involved. Several genetic mutations have been described to cause KS. The\n ANOS1<\/jats:italic>\n (\n KAL1)<\/jats:italic>\n gene is responsible for 8% of mutations causing KS. A 17-year-old male presented to our clinic with delayed puberty and hyposmia, along with a family history suggestive of hypogonadism in his maternal uncle. Genetic testing for KS revealed complete exon 3 deletion in the\n ANOS1<\/jats:italic>\n gene. To the best of our knowledge, this specific mutation has not been previously described in the literature.\n <\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n \n Missense and frameshift mutations in the\n KAL1<\/jats:italic>\n or\n ANOS1<\/jats:italic>\n gene located in the X chromosome are responsible for 8% of all known genetic mutations of Kallmann syndrome.\n <\/jats:p>\n <\/jats:list-item>\n \n \n Exon 3 deletion is one of the\n ANOS1<\/jats:italic>\n gene is a novel mutation, not reported before.\n <\/jats:p>\n <\/jats:list-item>\n \n Targeted gene sequencing for hypogonadotropic hypogonadism can be employed based on the phenotypic presentation.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-22-0310","type":"journal-article","created":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T11:30:00Z","timestamp":1686310200000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["A case of novel mutation in ANOS1 (KAL1) gene and review of Kallmann syndrome"],"prefix":"10.1530","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4117-5694","authenticated-orcid":true,"given":"Sumeet","family":"Arora","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology, Artemis Hospital, Gurgaon, Haryana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Yeliosof","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Cohen Children\u2019s Northwell Health, Staten Island, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4445-7884","authenticated-orcid":true,"given":"Vivian L","family":"Chin","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, SUNY Downstate Health Sciences University, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"1781","article-title":"Approach to the patient with hypogonadotropic hypogonadism","volume":"98","author":"Silveira","year":"2013","unstructured":"Silveira LF & Latronico AC. 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