Skip to main content

Advertisement

Log in

Pituitary and hypothalamic dysfunction in a patient with a basal encephalocele

  • Case Report
  • Published:
Journal of Endocrinological Investigation Aims and scope Submit manuscript

Abstract

A 31 year old Chinese man was found to have a large basal encephalocele extending into the nasopharynx associated with a cleft palate and chiasmal damage producing visual field defects. He was found to have marked hypothalamic-pituitary dysfunction including deficiencies of growth hormone, thyrotropin, adrenocorticotropic hormone and gonadotropins, diabetes insipidus, adipsia with essential hypernatremia and poikilothermia. This man illustrates the importance of careful assessment of patients with craniofacial anomalies and outlines a simple investigational protocol.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Laron Z., Taube E., Kaplan I. Pituitary growth hormone insufficiency associated with cleft lip and palate: an embryonal developmental defect. Helv. Pediatr. Acta 24: 576, 1969.

    CAS  Google Scholar 

  2. Hintz R.L., Menking M., Sotos J.F. Familial holoprosencephaly with endocrine dysgenesis. J. Pediatr. 72: 81, 1968.

    Article  PubMed  CAS  Google Scholar 

  3. Romshe C.A., Sotos J.F. Hypothalamic-pituitary dysfunction in siblings of patients with holoprosencephaly. J. Pediatr. 83: 1088, 1973.

    Article  PubMed  CAS  Google Scholar 

  4. Patel H., Dolman C.L., Byrne M.A. Holoprosencephaly with median cleft lip: clinical, pathological and echoencephalographic study. Am. J. Dis. Child. 724: 217, 1972.

    Article  Google Scholar 

  5. Wegenke J.D., Uehling D.T., Wear J.B., Jr., Gordon E.S., Bargman J.G., Deacon J.S.R., Herrmann J.P.R., Opitz J.M. Familial Kallmann syndrome with unilateral renal aplasia. Clin. Genetics 7: 368, 1975.

    Article  CAS  Google Scholar 

  6. Schalekamp M.A.D.H., Bever Donker S.C., Jansen-Goemans A., Fawzi T.D., Muller A. Dissociation of renin and aldosterone during rehydration: studies in a case of diabetes insipidus and adipsia. J. Clin. Endocrinol. Metab. 43: 287, 1976.

    Article  PubMed  CAS  Google Scholar 

  7. Pollock J.A., Newton T.H., Hoyt W.F. Transsphenoidal andtransethmoidal encephaloceles: a review of clinical and roentgen features in 8 cases. Radiology 90: 442, 1968.

    PubMed  CAS  Google Scholar 

  8. Walsh F.B., Hoyt W.F. Clinical Neuro-ophthalmology, ed. 3. Williams and Wilkins, Baltimore, 1969, vol. 1, p. 715.

    Google Scholar 

  9. Lau B.P., Newton T.H. Sphenopharyngeal encephalomeningocele. Radiol. Clin. Biol. 34: 386, 1965.

    PubMed  CAS  Google Scholar 

  10. Lewin M.L., Shuster M.M. Transpalatal correction of basilar meningocele with cleft palate. Arch. Surg. 90: 687, 1965.

    Article  PubMed  CAS  Google Scholar 

  11. Lieblich J.M., Rosen S.W., Guyda H., Reardan J., Schaaf M. The syndrome of basal encephalocele and hypothalamic pituitary dysfunction. Ann. Intern. Med. 89: 910, 1978.

    Article  PubMed  CAS  Google Scholar 

  12. Ellyin F., Khatir A.H., Singh S.P. Hypothalamic-pituitary functions in patients with transsphenoidal encephalocele and midfacial anomalies. J. Clin. Endocrinol. Metab. 57: 854, 1980.

    Article  Google Scholar 

  13. Jacobs L.S., Snyder P.J., Utiger R.D., Daughaday W.H. Prolactin response to thyrotropin releasing hormone in normal subjects. J. Clin. Endocrinol. Metab. 36: 1069, 1973.

    Article  PubMed  CAS  Google Scholar 

  14. Snyder P.J., Utiger R.D. Response to thyrotropin releasing hormone (TRH) in normal man. J. Clin. Endocrinol. Metab. 34: 380, 1972.

    Article  PubMed  CAS  Google Scholar 

  15. Ichikawa Y., Nishikai M., Kawagoe M., Yoshida K., Homma M. Plasma corticotropin, Cortisol, and growth hormone response to hypoglycemia in the morning and evening. J. Clin. Endocrinol. Metab. 34: 895, 1972.

    Article  PubMed  CAS  Google Scholar 

  16. Yen S.S.C., Rebar R., Vandenberg G., Naftolin F., Ehara Y., Engblom S., Ryan K.J., Benirschke K. Synthetic luteinizing hormone-releasing factor: a potent stimulator of gonadotropin release in man. J. Clin. Endocrinol. Metab. 34: 1108, 1972.

    Article  PubMed  CAS  Google Scholar 

  17. Miller M., Dalakos T., Moses A.M., Fellerman H., Streeten D.H.T. Recognition of partial defects in antidiuretic hormone secretion. Ann. Intern. Med. 73: 721, 1970.

    Article  PubMed  CAS  Google Scholar 

  18. Martin J.B., Reichlin S., Brown G.M. Neurological manifestation of hypothalamic disease. In: Martin J.B., Reichlin S., Brown G.M. (Eds.) Clinical neuroendocrinology. F.A. Davis, Philadelphia, 1977, p. 247.

    Google Scholar 

  19. Chopra I.S. A radioimmunoassay for measurement of thyroxine in unextracted serum. J. Clin. Endocrinol. Metab. 34: 938, 1972.

    Article  PubMed  CAS  Google Scholar 

  20. Siegel S.J., Line W.F., Yang N.S.-T., Kwong A., Frank C. Solid phase triiodothyronine radioimmunoassay. J. Clin. Endocrinol. Metab. 37: 526, 1973.

    Article  PubMed  CAS  Google Scholar 

  21. Cavalieri R.R., Castle J.N., Searle G.L. A simplified method for estimating freethyroxine fraction in serum. J. Nucl. Med. 70: 565, 1969.

    Google Scholar 

  22. Odell W.D., Wilber J.F., Paul W.E. Radioimmunoassay of thyrotropin in human serum. J. Clin. Endocrinol. Metab. 25: 1179, 1965.

    Article  PubMed  CAS  Google Scholar 

  23. Glick S.M., Roth J., Yalow R.S., Berson S.A. Immunoassay of human growth hormone in plasma. Nature 199: 784, 1963.

    Article  PubMed  CAS  Google Scholar 

  24. Sinha Y.N., Selby F.W., Lewis U.J. Vanderlaan W.P. A homologous radioimmunoassay for human prolactin. J. Clin. Endocrinol. Metab. 36: 509, 1973.

    Article  PubMed  CAS  Google Scholar 

  25. Migdley A.R. Radioimmunoassay for human follicle stimulating hormone. J. Clin. Endocrinol. Metab. 27: 295, 1967.

    Article  Google Scholar 

  26. Yalow R.S., Berson S.A. Chapter 1: Introduction and general considerations. In: Odell W.D., Daughaday W.H. (Eds.), Principles of competitive protein-binding assays. J.B. Lippincott, Philadelphia, 1971, p.1.

    Google Scholar 

  27. Furuyama S., Maye D.M., Nugent C.A. A radioimmunoassay for plasma testosterone. Steroids 16: 415, 1970.

    Article  PubMed  CAS  Google Scholar 

  28. Jacobson M.H., Levy S.E., Kaufman R.M., Gallinke W.E., Donnelly O.W. Urine osmolality: a definitive test of renal function. Arch. Intern. Med. 110: 83, 1962.

    Article  PubMed  CAS  Google Scholar 

  29. Landon J., Greenwood F.C., Stamp T.C.B., Wynn V. The plasma sugar, free fatty acid, cortisol and growth hormone response to insulin and the comparison of this procedure with other tests of pituitary and adrenal function: II In patients with hypothalamic or pituitary dysfunction or anorexia nervosa. J. Clin. Endocrinol. Metab. 45: 437, 1966.

    CAS  Google Scholar 

  30. Suwanwela C., Hongsaprabhas C. Frontoethmoidal encephalomeningocele. J. Neurosurg. 25: 172, 1966.

    Article  PubMed  CAS  Google Scholar 

  31. Field B. The child with an encephalocele. Med. J. Aust. 7: 700, 1974.

    Google Scholar 

  32. Field B. Anancephalus, encephalocele and spinal meningomyelocele. Med. J. Aust. 7: 889, 1974.

    Google Scholar 

  33. Holmes L.B., Driscoll S.G., Atkins L. Etiologic heterogeneity of neural tube defects. N. Engl. J. Med. 294: 365, 1976.

    Article  PubMed  CAS  Google Scholar 

  34. Martin J.B., Reichlin S., Brown G.M. Clinical approach to diagnosis of hypothalamic-pituitary disease: endocrinologic aspects. In: Martin J.B., Reichlin S., Brown G.M. (Eds.), Clinical endocrinology. F.A. Davis, Philadelphia, 1977, p. 323.

    Google Scholar 

  35. Faglia G., Bitensky L., Pinchera A., Ferrari C., Paracchi A., Beck-Peccoz P., Ambrosi B., Spada A. Thyrotropin secretion in patients with central hypothyroidism: evidence for reduced biological activity of immunoreactive thyrotropin. J. Clin. Endocrinol. Metab. 48: 989, 1979.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Booth, J.D., Josse, R.G. & Singer, W. Pituitary and hypothalamic dysfunction in a patient with a basal encephalocele. J Endocrinol Invest 6, 473–478 (1983). https://doi.org/10.1007/BF03348347

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF03348347

Key-words

Navigation