{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:33Z","timestamp":1784557053623,"version":"3.55.0"},"reference-count":12,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,9,28]]},"abstract":"Summary<\/jats:title>\n \n Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including\n KAL1<\/jats:italic>\n , have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (\n STS<\/jats:italic>\n ). Both\n KAL1<\/jats:italic>\n and\n STS<\/jats:italic>\n are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07\u2009m) and weight (BMI: 29.6\u2009kg\/m\n 2<\/jats:sup>\n ), microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.\n <\/jats:p>\n \n Learning points:<\/jats:title>\n \n \n Kallmann syndrome is a genetically heterogeneous disease characterized by hypogonadotropic hypogonadism with anosmia or hyposmia associated with defects in the production or action of gonadotropin-releasing hormone (GnRH) and hypoplasia of the olfactory bulbs.<\/jats:p>\n <\/jats:list-item>\n \n \n Several genes have been implicated in Kallmann syndrome, including\n KAL1<\/jats:italic>\n , located in the Xp22.3 region, which is responsible for X-linked Kallmann syndrome.\n KAL1<\/jats:italic>\n encodes the protein anosmin-1. X-linked ichthyosis is caused by deficiency of the steroid sulfatase enzyme, encoded by\n STS<\/jats:italic>\n , which is also located in the Xp22.3 region. Deletions involving this region can affect both genes and result in contiguous gene syndromes.\n <\/jats:p>\n <\/jats:list-item>\n \n \n Phenotype can guide clinicians toward suspicion of a specific genetic mutation.\n KAL1<\/jats:italic>\n mutations are mostly related to microgenitalia, unilateral renal agenesis and synkinesia, although patients need not present all these abnormalities.\n <\/jats:p>\n <\/jats:list-item>\n \n Longstanding untreated hypogonadism is associated with poor sexual health, osteoporosis and metabolic syndrome with the concomitant risk of developing type 2 diabetes mellitus and obesity.<\/jats:p>\n <\/jats:list-item>\n \n Treatment aims to promote the development of secondary sex characteristics, build and sustain normal bone and muscle mass and restore fertility. Treatment can also help minimize some psychological consequences.<\/jats:p>\n <\/jats:list-item>\n \n Treatments available for patients with congenital GnRH deficiency such as Kallmann syndrome include gonadal steroid hormones, human gonadotropins and GnRH. The choice of therapy depends on the goal or goals.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-17-0083","type":"journal-article","created":{"date-parts":[[2017,9,28]],"date-time":"2017-09-28T03:14:40Z","timestamp":1506568480000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":5,"title":["Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome"],"prefix":"10.1530","volume":"2017","author":[{"given":"Irene","family":"Berges-Raso","sequence":"first","affiliation":[{"name":"1Endocrinology Department, Parc Taul\u00ed University Hospital, Sabadell, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Gim\u00e9nez-Palop","sequence":"additional","affiliation":[{"name":"1Endocrinology Department, Parc Taul\u00ed University Hospital, Sabadell, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Gabau","sequence":"additional","affiliation":[{"name":"1Endocrinology Department, Parc Taul\u00ed University Hospital, Sabadell, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismael","family":"Capel","sequence":"additional","affiliation":[{"name":"1Endocrinology Department, Parc Taul\u00ed University Hospital, Sabadell, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Assumpta","family":"Caix\u00e0s","sequence":"additional","affiliation":[{"name":"1Endocrinology Department, Parc Taul\u00ed University Hospital, Sabadell, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Rigla","sequence":"additional","affiliation":[{"name":"1Endocrinology Department, Parc Taul\u00ed University Hospital, Sabadell, Barcelona, 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