Atypical presentation of a patient with both Kallmann syndrome and a craniopharyngioma: Case report and literature review

Endocrine Practice

Volumn 11, Issue 1, 2005, Pages 30-36

  Jonklaas, Jacqueline ^a,b  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^b Division of Endocrinology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOPRESSIN ACETATE; FOLLITROPIN; HUMAN GROWTH HORMONE; HYDROCORTISONE; LEVOTHYROXINE; LUTEINIZING HORMONE; SOMATOMEDIN C; TESTOSTERONE;

ADULT; ANOSMIA; CASE REPORT; CLEFT PALATE; CLINICAL FEATURE; CRANIOPHARYNGIOMA; CRANIOTOMY; GROWTH HORMONE DEFICIENCY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; OLFACTORY BULB; REVIEW; HYPOPHYSIS TUMOR;

ADULT; CRANIOPHARYNGIOMA; HUMAN GROWTH HORMONE; HUMANS; KALLMANN SYNDROME; MAGNETIC RESONANCE IMAGING; MALE; PITUITARY NEOPLASMS;

EID: 23644447226     PISSN: 1530891X     EISSN: None     Source Type: Journal    
DOI: 10.4158/EP.11.1.30     Document Type: Review

References (42)

1. Rugarli EI, Ballabio A. Kallmann syndrome: from genetics to neurobiology. JAMA. 1993;270:2713-2716.
2. Franco B, Guioli S, Pragliola A, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature. 1991;353:529-536.
3. Waldstreicher J, Seminara SB, Jameson JL, et al. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J Clin Endocrinol Metab. 1996;81:4388-4395.
4. Whitcomb RW, Crowley WF Jr. Male hypogonadotropic hypogonadism. Endocrinol Metab Clin North Am. 1993; 22:125-143.
5. Crowley WF Jr, Jameson JL. Clinical counterpoint: gonadotropin-releasing hormone deficiency; perspectives from clinical investigation. Endocr Rev. 1992;13:635-640.
6. Kallmann FJ, Schoenfeld WA, Barrera SE. The genetic aspects of primary eunuchoidism. Am J Ment Defic. 1944; 48:203-236.
7. White BJ, Rogol AD, Brown KS, Lieblich JM, Rosen SW. The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review. Am J Med Genet. 1983;15:417-435.
8. Wegenke JD, Uehling DT, Wear JB Jr, et al. Familial Kallmann syndrome with unilateral renal aplasia. Clin Genet. 1975;7:368-381.
9. Turner RC, Bobrow LG, MacKinnon PC, Bonnar J, Hockaday TD, Ellis JD. Cryptorchidism in a family with Kallmann's syndrome. Proc R Soc Med. 1974;67:33-35.
10. Lieblich JM, Rogol AD, White BJ, Rosen SW. Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases. Am J Med. 1982;73:506-519.
11. Hetelekidis S, Barnes PD, Tao ML, et al. 20-year experience in childhood craniopharyngioma. Int J Radiat Oncol Biol Phys. 1993;27:189-195.
12. Brada M, Thomas DG. Craniopharyngioma revisited. Int J Radiat Oncol Biol Phys. 1993;27:471-475.
13. Honegger J, Buchfelder M, Fahlbusch R. Surgical treatment of craniopharyngiomas: endocrinological results. J Neurosurg. 1999;90:251-257.
14. Fahlbusch R, Honegger J, Paulus W, Huk W, Buchfelder M. Surgical treatment of craniopharyngiomas: experience with 168 patients. J Neurosurg. 1999;90:237-250.
15. de Vries L, Lazar L, Phillip M. Craniopharyngioma: presentation and endocrine sequelae in 36 children. J Pediatr Endocrinol Metab. 2003;16:703-710.
16. Shin JL, Asa SL, Woodhouse LJ, Smyth HS, Ezzat S. Cystic lesions of the pituitary: clinicopathological features distinguishing craniopharyngioma, Rathke's cleft cyst, and arachnoid cyst. J Clin Endocrinol Metab. 1999;84:3972-3982.
17. Paja M, Lucas T, Garcia-Uria J, Salame F, Barcelo B, Estrada J. Hypothalamic-pituitary dysfunction in patients with craniopharyngioma. Clin Endocrinol (Oxf). 1995;42: 467-473.
18. Doty RL. The Smell Identification Manual. Haddon Heights, NJ: Sensonics, Inc., 1963.
19. De Morsier G. Studies in cranio-encephalic dysraphia. I. Agenesia of the olfactory lobe (lateral telencephaloschisis) and of the callous and anterior commissures (median telencephaloschisis); olfacto-genital dysplasia [article in French]. Schweiz Arch Neurol Neurol Psychiatr. 1954; 74(1-2):309-361.
20. Schwanzel-Fukuda M, Pfaff DW. Origin of luteinizing hormone-releasing hormone neurons. Nature. 1989;338: 161-164.
21. Quinton R, Duke VM, de Zoysa PA, et al. The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis [erratum in J Clin Endocrinol Metab. 1996;81:3614]. J Clin Endocrinol Metab. 1996;81:3010-3017.
22. Truwit CL, Barkovich AJ, Grumbach MM, Martini JJ. MR imaging of Kallmann syndrome, a genetic disorder of neuronal migration affecting the olfactory and genital systems. AJNR Am J Neuroradiol. 1993;14:827-838.
23. Bick DP, Ballabio A. Bringing Kallmann syndrome into focus. AJNR Am J Neuroradiol. 1993;14:852-854.
24. Munoz A, Dieguez E. A plea for proper recognition: the syndrome of Maestre de San Juan-Kallmann [letter]. AJNR Am J Neuroradiol. 1997;18:1395-1396.
25. Knorr JR, Ragland RL, Brown RS, Gelber N. Kallmann syndrome: MR findings. AJNR Am J Neuroradiol. 1993; 14:845-851.
26. Yousem DM, Turner WJ, Li C, Snyder PJ, Doty RL. Kallmann syndrome: MR evaluation of olfactory system. AJNR Am J Neuroradiol. 1993;14:839-843.
27. Vogl TJ, Stemmler J, Heye B, et al. Kallmann syndrome versus idiopathic hypogonadotropic hypogonadism at MR imaging. Radiology. 1994;191:53-57.
28. Letourneau PC, Condic ML, Snow DM. Extracellular matrix and neunte outgrowth. Curr Opin Genet Dev. 1992: 2:625-634.
29. Yen SS. Female hypogonadotropic hypogonadism: hypothalamic amenorrhea syndrome. Endocrinol Metab Clin North Am. 1993;22:29-58.
30. Kovacs K, Sheehan HL. Pituitary changes in Kallmann's syndrome: a histologic, immunocytologic, ultrastructural, and immunoelectron microscopic study. Fertil Steril. 1982; 37:83-89.
31. Whitcomb RW, Crowley WF Jr. Clinical review 4: diagnosis and treatment of isolated gonadotropin-releasing hormone deficiency in men. J Clin Endocrinol Metab. 1990;70:3-7.
32. Delemarre-Van de Waal HA. Induction of testicular growth and spermatogenesis by pulsatile, intravenous administration of gonadotrophin- releasing hormone in patients with hypogonadotrophic hypogonadism. Clin Endocrinol (Oxf). 1993;38:473-480.
33. Sungurtekin U, Fraser IS, Shearman RP. Pregnancy in women with Kallmann's syndrome. Fertil Steril. 1995;63: 494-499.
34. Chryssikopoulos T. Predictive value of gonadotropin-releasing hormone test in Kallmann's syndrome? Fertil Steril. 1995;64:1230-1231.
35. Pawlowitzki IH, Diekstall P, Schadel A, Miny P. Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients. Am J Med Genet. 1987;26:473-479.
36. Legouis R, Hardelin JP, Levilliers J, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell. 1991;67:423-435.
37. Georgopoulos NA, Pralong FP, Seidman CE, Seidman JG, Crowley WF Jr, Vallejo M. Genetic heterogeneity evidenced by low incidence of KAL-I gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. J Clin Endocrinol Metab. 1997;82:213-217.
38. Dode C, Levilliers J, Dupont JM, et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003;33:463-465.
39. Fernandes YB, Guerra Junior G, Lemos SH, et al. Unusual association of Kallmann syndrome and arachnoid cyst of the middle fossa: report of a case [article in Portuguese]. Arq Neuropsiquiatr. 1995;53(3-B):662-666.
40. Takahashi MP, Miyai I, Matsumura T, Nozaki S, Kang J. A case of Kallmann syndrome with empty sella and arachnoid cyst [article in Japanese]. Rinsho Shinkeigaku. 1997;37:704-707.
41. Harrison MJ, Morgello S, Post KD. Epithelial cystic lesions of the sellar and parasellar region: a continuum of ectodermal derivatives? J Neurosurg. 1994;80:1018-1025.
42. Asa S. Atlas of Tumor Pathology. Fascicle 22. Washington, DC: Armed Forces Institute of Pathology, 1998.