Volume 14, Issue 8 (8-2016)                   IJRM 2016, 14(8): 541-544 | Back to browse issues page


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Salama N. Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review. IJRM 2016; 14 (8) :541-544
URL: http://ijrm.ir/article-1-771-en.html
Department of Surgery (Section of Urology), Taibah Faculty of Medicine, Taibah University, Al-Madinah, Saudi Arabia. Department of Urology, Alexandria Faculty of Medicine, Alexandria, Egypt , nadersalama58@yahoo.com
Abstract:   (2555 Views)
Background: Kallmann syndrome (Kal S) is an isolated form of hypogonadotrophic hypogonadism in combination with a defect in smell sensation. Depending on the genetic form of the disease, a number of non-reproductive, non-olfactory abnormalities may also be existent. In the present report, we describe a male with Kal S associated with hearing loss, and the successful treatment of his sexual and reproductive defects.
Case: A 23-year-old Caucasian man presented with a lifelong lack of erection and ejaculation. The patient reported also anosmia combined with loss of hearing ability. A diagnostic work-up identified the presence of Kal S associated with sensorineural hearing loss. Administration of gonadotrophins regained the erection and a viable-sperm containing ejaculation.
Conclusion: Lack of erection and ejaculation are important components of delayed puberty which could lead to diagnosis of Kal S. The existence of a hearing impairment in the reported patient makes the recommendation to screen the hearing ability in Kal S of utmost importance.
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Type of Study: Original Article |

References
1. Dodé C, Hardelin JP. Clinical genetics of Kallmann syndrome. Ann Endocrinol (Paris) 2010; 71: 149-157. [DOI:10.1016/j.ando.2010.02.005]
2. Kaplan JD, Bernstein JA, Kwan A, Hudgins L. Clues to an early diagnosis of Kallmann syndrome. Am J Med Genet A 2010; 152A: 2796-2801. [DOI:10.1002/ajmg.a.33442]
3. Quinton R, Duke VM, Robertson A, Kirk JM, Matfin G, de Zoysa PA, et al. Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization. Clin Endocrinol (Oxf) 2001; 55: 163-174. [DOI:10.1046/j.1365-2265.2001.01277.x]
4. Pingault V, Bodereau V, Baral V, Marcos S,Watanabe Y, Chaoui A, et al. Loss of function mutations in SOX 10 cause Kallmann syndrome with deafness. Am J Hum Genet 2013; 92: 707-724. [DOI:10.1016/j.ajhg.2013.03.024]
5. Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Clinical review: Klinefelter syndrome-a clinical update. J Clin Endocrinol Metab 2013; 98: 20-30. [DOI:10.1210/jc.2012-2382]
6. Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, et al. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr 2006 ;148: 410-414. [DOI:10.1016/j.jpeds.2005.10.044]
7. Marlin S, Chantot-Bastaraud S, David A, Loundon N, Jonard L, Portnoï MF, et al. Discovery of a large deletion of KAL1 in 2 deaf brothers. Otol Neurotol 2013; 34: 1590-1594. [DOI:10.1097/MAO.0000000000000228]
8. Teixeira L, Guimiot F, Dode´ C, Fallet-Bianco C, Millar RP, Delezoide AL, et al. Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions. J Clin Invest 2010; 120: 3668-3672. [DOI:10.1172/JCI43699]
9. Hardelin JP, Levilliers J, Young J, Pholsena M, Legouis R, Kirk J, et al. Xp22.3 deletions in isolated familial Kallmann's syndrome. J Clin Endocrinol Metab 1993; 76: 827-831.
10. Villanueva C, de Roux N. FGFR1 mutations in Kallmann syndrome. Front Horm Res 2010; 39: 51-61. [DOI:10.1159/000312693]
11. Wortsman J, Hughes LF. Case report: olfactory function in a fertile eunuch with Kallmann syndrome. Am J Med Sci 1996; 311: 135-138. [DOI:10.1016/S0002-9629(15)41661-1]

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