{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:07:05Z","timestamp":1791198425218,"version":"4.1.0"},"reference-count":21,"publisher":"The Endocrine Society","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Context: Kallmann\u2019s syndrome (KS) is a genetically heterogeneous disorder consisting of congenital hypogonadotropic hypogonadism (CHH) with anosmia or hyposmia.<\/jats:p>\n               <jats:p>Objective: Our objective was to compare the reproductive phenotypes of men harboring KAL1 and FGFR1\/KAL2 mutations.<\/jats:p>\n               <jats:p>Design and Patients: We studied the endocrine features reflecting gonadotropic-testicular axis function in 39 men; 21 had mutations in KAL1 and 18 in FGFR1\/KAL2, but none had additional mutations in PROK-2 or PROKR-2 genes.<\/jats:p>\n               <jats:p>Results: Puberty failed to occur in the patients with KAL1 mutations, all of whom had complete CHH. Three patients with FGFR1\/KAL2 mutations had normal puberty, were eugonadal, and had normal testosterone and gonadotropin levels. Cryptorchidism was more frequent (14 of 21 vs. 3 of 15; P &amp;lt; 00.1) and testicular volume (2.4 \u00b1 1.1 vs. 5.4 \u00b1 2.4 ml; P &amp;lt; 0.001) was smaller in CHH subjects with KAL1 mutations than in subjects with FGFR1\/KAL2 mutations. The mean basal plasma FSH level (0.72 \u00b1 0.47 vs. 1.48 \u00b1 0.62 IU\/liter; P &amp;lt; 0.05), serum inhibin B level (19.3 \u00b1 10.6 vs. 39.5 \u00b1 19.3 pg\/ml; P &amp;lt; 0.005), basal LH plasma level (0.57 \u00b1 0.54 vs. 1.0 \u00b1 0.6 IU\/liter; P &amp;lt; 0.01), and GnRH-stimulated LH plasma level (1.2 \u00b1 1.0 vs. 4.1 \u00b1 3.5 IU\/liter; P &amp;lt; 0.01) were significantly lower in the subjects with KAL1 mutations. LH pulsatility was studied in 13 CHH subjects with KAL1 mutations and seven subjects with FGFR1\/KAL2 mutations; LH secretion was nonpulsatile in all the subjects, but mean LH levels were lower in those with KAL1 mutations.<\/jats:p>\n               <jats:p>Conclusion: KAL1 mutations result in a more severe reproductive phenotype than FGFR1\/KAL2 mutations. The latter are associated with a broader spectrum of pubertal development and with less severe impairment of gonadotropin secretion.<\/jats:p>","DOI":"10.1210\/jc.2007-1168","type":"journal-article","created":{"date-parts":[[2007,12,27]],"date-time":"2007-12-27T01:24:49Z","timestamp":1198718689000},"page":"758-763","source":"Crossref","is-referenced-by-count":94,"title":["Kallmann\u2019s Syndrome: A Comparison of the Reproductive Phenotypes in Men Carrying KAL1 and FGFR1\/KAL2 Mutations"],"prefix":"10.1210","volume":"93","author":[{"given":"Sylvie","family":"Salenave","sequence":"first","affiliation":[{"name":"Department of Assistance Publique-Ho\u0302pitaux de Paris, Ho\u0302pital de Bice\u0302tre, Service d\u2019Endocrinologie et des Maladies de la Reproduction and Centre de Re\u0301fe\u0301rence des Maladies Endocriniennes Rares de la Croissance (S.S., P.C., H.B., J.Y.), F94275 Le Kremlin-Bice\u0302tre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Chanson","sequence":"additional","affiliation":[{"name":"Department of INSERM U693 (P.C., S.B., J.Y.), F94275 Le Kremlin-Bice\u0302tre, France"},{"name":"Department of Univ Paris-Sud 11 (P.C., S.B., J.Y.), F94275 Le Kremlin-Bice\u0302tre, France"},{"name":"Department of Assistance Publique-Ho\u0302pitaux de Paris, Ho\u0302pital de Bice\u0302tre, Service d\u2019Endocrinologie et des Maladies de la Reproduction and Centre de Re\u0301fe\u0301rence des Maladies Endocriniennes Rares de la Croissance (S.S., P.C., H.B., J.Y.), F94275 Le Kremlin-Bice\u0302tre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"He\u0301le\u0300ne","family":"Bry","sequence":"additional","affiliation":[{"name":"Department of Assistance Publique-Ho\u0302pitaux de Paris, Ho\u0302pital de Bice\u0302tre, Service d\u2019Endocrinologie et des Maladies de la Reproduction and Centre de Re\u0301fe\u0301rence des Maladies Endocriniennes Rares de la Croissance (S.S., P.C., H.B., J.Y.), F94275 Le Kremlin-Bice\u0302tre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Pugeat","sequence":"additional","affiliation":[{"name":"Department of Ho\u0302pital Neurologique, Fe\u0301de\u0301ration d\u2019Endocrinologie (M.P.), F69500 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Cabrol","sequence":"additional","affiliation":[{"name":"Department of Assistance Publique-Ho\u0302pitaux de Paris, Ho\u0302pital Trousseau, Laboratoire d\u2019Exploration Fonctionnelles Endocriniennes (S.C.), F75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Claude","family":"Carel","sequence":"additional","affiliation":[{"name":"Department of Assistance Publique-Ho\u0302pitaux de Paris, Ho\u0302pital Robert Debre\u0301, Service d\u2019Endocrinologie Pe\u0301diatrique, and Centre de Re\u0301fe\u0301rence des Maladies Endocriniennes Rares de la Croissance (J.C.C.), F75935 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Murat","sequence":"additional","affiliation":[{"name":"Department of Centre Hospitalier Universitaire, Service d\u2019Endocrinologie (A.M.), F44000 Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Lecomte","sequence":"additional","affiliation":[{"name":"Department of Centre Hospitalier Universitaire, Service d\u2019Endocrinologie (P.L.), F37044 Tours, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Brailly","sequence":"additional","affiliation":[{"name":"Department of INSERM U693 (P.C., S.B., J.Y.), F94275 Le Kremlin-Bice\u0302tre, France"},{"name":"Department of Univ Paris-Sud 11 (P.C., S.B., J.Y.), F94275 Le Kremlin-Bice\u0302tre, France"},{"name":"Department of Laboratoire de Ge\u0301ne\u0301tique mole\u0301culaire, Pharmacoge\u0301ne\u0301tique et Hormonologie (S.B.), F94275 Le Kremlin-Bice\u0302tre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"Hardelin","sequence":"additional","affiliation":[{"name":"Institut Pasteur, Unite\u0301 de Ge\u0301ne\u0301tique des De\u0301ficits Sensoriels (J.-P.H.), F75724 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Dode\u0301","sequence":"additional","affiliation":[{"name":"Assistance Publique-Ho\u0302pitaux de Paris, Ho\u0302pital Cochin, Laboratoire de, Biochimie et de Ge\u0301ne\u0301tique Mole\u0301culaire (C.D.), F75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Young","sequence":"additional","affiliation":[{"name":"Department of INSERM U693 (P.C., S.B., J.Y.), F94275 Le Kremlin-Bice\u0302tre, France"},{"name":"Department of Univ Paris-Sud 11 (P.C., S.B., J.Y.), F94275 Le Kremlin-Bice\u0302tre, France"},{"name":"Department of Assistance Publique-Ho\u0302pitaux de Paris, Ho\u0302pital de Bice\u0302tre, Service d\u2019Endocrinologie et des Maladies de la Reproduction and Centre de Re\u0301fe\u0301rence des Maladies Endocriniennes Rares de la Croissance (S.S., P.C., H.B., J.Y.), F94275 Le Kremlin-Bice\u0302tre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071613390705600_R1","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/0092-8674(91)90193-3","article-title":"The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.","volume":"67","author":"Legouis","year":"1991","journal-title":"Cell"},{"key":"2020071613390705600_R2","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/353529a0","article-title":"A gene deleted in Kallmann\u2019s syndrome shares homology with neural cell adhesion and axonal path-finding 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