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Idiopathic hypogonadotrophic hypogonadism associated with arachnoid cyst of the middle fossa and forebrain anomalies: Presentation of an unusual case

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Abstract

We report a 22-yr-old male patient with hypogonadotrophic hypogonadism (HH) associated with a giant middle fossa arachnoid cyst (AC) diagnosed by magnetic resonance imaging (MRI). He presented with pubertal and growth delay. He also had learning disabilities and anosmia. Laboratory investigation revealed pre-pubertal levels of testosterone and normal results of the combined test of anterior pituitary function, except for in GnRH acute and prolonged test. Cranial MRI showed an AC in left middle fossa with expansion to suprasellar cisterna and several abnormalities like left temporal lobe hypoplasia, left optic tract and bilateral olfactory bulb hypoplasia and left hypothalamic hypoplasia.

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References

  1. Kallmann FJ, Schoenfeld WA, Barrera SE. The genetic aspects of primary eunuchoidism. Am J Ment Defic 1944, 48: 203–6.

    Google Scholar 

  2. Tagatz G, Fialkow PJ, Smith DW, Spadoni L. Hypogonadotrophic Hypogonadism associated with anosmia in females. N Engl J Med 1970, 283: 1326–9.

    Article  PubMed  CAS  Google Scholar 

  3. Hockaday TDR. Hypogonadism and lifelong anosmia. Postgrad Med J 1966, 42: 572–4.

    Article  PubMed Central  PubMed  CAS  Google Scholar 

  4. Merriam GR, Beitins IZ, Bode HH. Father-to-son transmission of hypogonadism with anosmia. Am J Dis Child 1977, 131: 1216–9.

    Article  PubMed  CAS  Google Scholar 

  5. Dode C, Levilliers J, Dupont JM, et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 2003, 33: 463–5.

    Article  PubMed  CAS  Google Scholar 

  6. Sato N, Katsumata N, Kagami M, et al. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab 2004, 89: 1079–88.

    Article  PubMed  CAS  Google Scholar 

  7. Mohn A, Fahlbusch R, Dorr HG. Panhypopituitarism associated with diabetes insipidus in a girl with a suprasellar arachnoid cyst. Horm Res 1999, 52: 35–8.

    Article  PubMed  CAS  Google Scholar 

  8. Takahashi MP, Miyai I, Matsumura T, Nozaki S, Kang J. A case of Kallmann syndrome with empty sella and arachnoid cyst. Rinsho Shinkeigaku 1997, 37: 704–7.

    PubMed  CAS  Google Scholar 

  9. Fernandes YB, Guerra Junior G, et al. Unusual association of Kallmann syndrome and arachnoid cyst of the middle fossa. Report of a case. Arq Neuropsiquiatr 1995, 53: 662–6.

    Article  PubMed  CAS  Google Scholar 

  10. 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: 529–36.

    Article  PubMed  CAS  Google Scholar 

  11. Artico M, Cervoni L, Salvati M, Fiorenza F, Caruso R. Supratentorial arachnoid cysts: clinical and therapeutic remarks on 46 cases. Acta Neurochir (Wien) 1995, 132: 75–8.

    Article  CAS  Google Scholar 

  12. Passero S, Filosomi G, Cioni R, Venturi C, Volpini B. Arachnoid cysts of the middle cranial fossa: a clinical, radiological and follow-up study. Acta Neurol Scand 1990, 82: 94–100.

    Article  PubMed  CAS  Google Scholar 

  13. von Wild K. Arachnoid cysts of the middle cranial fossa. Neurochirurgia (Stuttg) 1992, 35: 177–82.

    Google Scholar 

  14. Parsch CS, Krauss J, Hofmann E, Meixensberger J, Roosen K. Arachnoid cysts associated with subdural hematomas and hygromas: analysis of 16 cases, long-term follow-up, and review of the literature. Neurosurgery 1997, 40: 483–90.

    PubMed  CAS  Google Scholar 

  15. Leo JS, Pinto RS, Hulvat GF, Epstein F, Kricheff II. Computed tomography of arachnoid cysts. Radiology 1979, 130: 675–80.

    PubMed  CAS  Google Scholar 

  16. Aicardi J, Bauman F. Supratentorial extracerebral cysts in infants and children. J Neurol Neurosurg Psychiatry 1975, 38: 57–8.

    Article  PubMed Central  PubMed  CAS  Google Scholar 

  17. Galassi E, Tognetti F, Gaist G, Fagioli L, Frank F, Frank G. CT scan and metrizamide CT cisternography in arachnoid cysts of the middle cranial fossa: classification and pathophysiological aspects. Surg Neurol 1982, 17: 363–9.

    Article  PubMed  CAS  Google Scholar 

  18. Callaway MP, Renowden SA, Lewis TT, Bradshaw J, Malcolm G, Coakham H. Middle cranial fossa arachnoid cysts: not always a benign entity. Br J Radiol 1998, 71: 441–3.

    PubMed  CAS  Google Scholar 

  19. Arai H, Sato K, Wachi A, Okuda O, Takeda N. Arachnoid cysts of the middle cranial fossa: Experience with 77 patients who were treated with cystoperitoneal shunting. Neurosurgery 1996, 39: 1108–12.

    Article  PubMed  CAS  Google Scholar 

  20. Starkman SP, Brown TC, Linell EA. Cerebral arachnoid cysts. J Neuropathol Exp Neurol 1958, 17: 484–500.

    Article  PubMed  CAS  Google Scholar 

  21. Gentry LR, Menezes AH, Turski PA, Smoker WR, Cornell SH, Ramirez L. Suprasellar arachnoid cysts: 2. Evaluation of CSF dynamics. AJNR Am J Neuroradiol 1986, 7: 87–96.

    PubMed  CAS  Google Scholar 

  22. Crisi G, Calo M, De Santis M, Angiari P, Merli GA. Metrizamide-enhanced computed tomography of intracranial arachnoid cysts. J Comput Assist Tomogr 1984, 8: 928–35.

    Article  PubMed  CAS  Google Scholar 

  23. Galassi E, Tognetti F, Pozzati E, Frank F. Extradural hematoma complicating middle fossa arachnoid cyst. Childs Nerv Syst 1986, 2: 306–8.

    Article  PubMed  CAS  Google Scholar 

  24. Rengachary SS, Watanabe I. Ultrastructure and pathogenesis of intracranial arachnoid cysts. J Neuropathol Exp Neurol 1981, 40: 61–83.

    Article  PubMed  CAS  Google Scholar 

  25. Koch CA, Voth D, Kraemer G, Schwarz M. Arachnoid cysts: does surgery improve epileptic seizures and headaches? Neurosurg Rev 1995, 18: 173–81.

    Article  PubMed  CAS  Google Scholar 

  26. Furuta S, Hatakeyama T, Nishizaki O, Fukumoto S. Usefulness of neuroendoscopy in treating supracollicular arachnoid cysts-case report. Neurol Med Chir (Tokyo) 1998, 38: 107–9.

    Article  CAS  Google Scholar 

  27. Bick D, Franco B, Sherins RJ, et al. Intragenic deletion of the KALIG-1 gene in Kallmann syndrome. N Engl J Med 1992, 326: 1752–5.

    Article  PubMed  CAS  Google Scholar 

  28. Hardelin JP, Levilliers J, del Castillo I, et al. X chromosomelinked Kallmann syndrome: stop mutations validate the candidate gene. Proc Natl Acad Sci U S A 1992, 89: 8190–4.

    Article  PubMed Central  PubMed  CAS  Google Scholar 

  29. Meitinger T, Heye B, Petit C, et al. Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. Am J Hum Genet 1990, 47: 664–9.

    PubMed Central  PubMed  CAS  Google Scholar 

  30. 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: 423–35.

    Article  PubMed  CAS  Google Scholar 

  31. Lutz B, Rugarli EI, Eichele G, Ballabio A. X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system? FEBS Lett 1993, 325: 128–34.

    Article  PubMed  CAS  Google Scholar 

  32. De Morsier G. Etudes sur les dysraphies cranioencéphaliques. I. Agénésie des lobes olfactifs (télénecéphaloschizis lateral) et des commissures calleuse et antérieure (telencéphaloschizis médian): la dysplasie olfacto–génitale. Schweiz Arch Neurol Psychiatr 1954, 74: 309–61.

    Google Scholar 

  33. Quinton R, Duke VM, de Zoysa PA, et al. The neurobiology of Kallmann syndrome: a genotype and phenotypic analysis. J Clin Endocr Metab 1996, 81: 3010–7.

    PubMed  CAS  Google Scholar 

  34. Wegenke JD, Uehling DT, Wear JB Jr, et al. Familial Kallmann syndrome with unilateral renal aplasia. Clin Genet 1975, 7: 368–81.

    Article  PubMed  CAS  Google Scholar 

  35. Ballabio A, Parenti G, Tippet P, et al. X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallman syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationship with X9 and cloned DNA sequences from the distal short arm of the X chromosome. Hum Genet 1986, 72: 237–40.

    Article  PubMed  CAS  Google Scholar 

  36. Bick D, Curry CJR, McGill, Schorderet DF, Bux RC, Moore CM. Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. Am J Med Genet 1989, 33: 100–7.

    Article  PubMed  CAS  Google Scholar 

  37. Klein VR, Friedman JM, Brookshira GS, Brown OE, Edman CD. Kallmann syndrome associated with choanal atresia. Clin Genet 1987, 31: 224–7.

    Article  PubMed  CAS  Google Scholar 

  38. Levy CM, Knudtzon J. Kallmann syndrome in two sisters with other developmental anomalies also affecting their father. Clin Genet 1993, 43: 51–3.

    Article  PubMed  CAS  Google Scholar 

  39. Hintz RL, Menking M, Sotos JF. Familial holoprosencephaly with endocrine dysgenesis. J Pediatr 1968, 72: 81–7.

    Article  PubMed  CAS  Google Scholar 

  40. Cortez AB, Galindo A, Arensman FW, Van Dop C. Congenital heart disease associated with sporadic Kallman syndrome. Am J Med Genet 1993, 46: 551–4.

    Article  PubMed  CAS  Google Scholar 

  41. Gasztonyi Z, Barsi P, Czeizel AE. Kallmann syndrome in three unrelated women and an association with femur-fibula-ulna dysostosis in one case. Am J Med Genet 2000, 93: 176–80.

    Article  PubMed  CAS  Google Scholar 

  42. Baysefer A, Akay KM, Tasar M, Izci Y. Congenital absence of internal carotid artery associated with hypogonadotropic hypogonadism—a case report. Vasc Endovascular Surg 2002, 36: 457–60.

    Article  PubMed  Google Scholar 

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Correspondence to M. Tasar MD.

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Tasar, M., Bozlar, U., Yetiser, S. et al. Idiopathic hypogonadotrophic hypogonadism associated with arachnoid cyst of the middle fossa and forebrain anomalies: Presentation of an unusual case. J Endocrinol Invest 28, 935–939 (2005). https://doi.org/10.1007/BF03345326

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