Abstract
The case of a seventeen-year-old female patient with septo-optic dysplasia and pituitary dwarfism is presented. Mental retardation and epilepsy, in addition to absence of the septum pellucidum, point to a widespread lesion of the central nervous system. There is unilateral hypoplasia of the optic nerve. She is of small stature. The dynamic pituitary tests point to deficiency of GH, TSH and ACTH, and an adequate reserve of prolactin, gonadotrophins and vasopressin. TSH insufficiency is probably of primary pituitary origin.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Billson, F., Hopkins, I. J.: Optic hypoplasia and hypopituitarism. Lancet 1972I, 905
Brook, C. G. D., Sanders, M. D., Hoare, R. D.: Septo-optic displasia. Br. Med. J. 1972III, 811–813
Cerasi, E., Della Casa, L., Luft, R., Roovete, A.: Determination of human growth hormone (HGH) in plasma by a double antibody radioimmunoassay. Acta Endocrinol. 53, 101–120 (1966)
DeMorsier, G.: Etudes sur les dysraphie crânio-encèphalique. III: Agènèsie du septum lucidum avec malformations du tractus optique: la dysplasie septo-optique. Schweiz. Arch. Neurol. Psychiat. 77, 267–292 (1956)
Ellenberg, C. Jr. Runyan, T. E.: Holoprosencephaly with hypoplasia of the optic nerves, dwarfism, and agenesis of the septum pellucidum. Am. J. Ophtalmol. 70, 960–967 (1970)
Greulich W. W., Pyle, S. I.: Radiographic Atlas of skeletal development of the hand and wrist. Standford: University Press 1959
Harris, R. J., Haas, L.: Septo-optic Dysplasia with Growth Hormone Deficiency (DeMorsier Syndrome). Arch. Dis. Child. 47, 973–976 (1972)
Hoyt, W. F., Kaplan, S. L., Grumbach, M. M., Glaser, J. S.: Septo optic optic dysplasia and pituitary dwarfism. Lancet 1970 I, 893–894
Kadrnka Lovrenčić, M., Reiner Banovac, Ž., Oberiter, V., Sekso, M., Petek, M., Kšivanek Škrabalo, L., Rešetić, J.: Plasma gonadotropin (LH and FSH) concentrations in prepubertal and pubertal children upon stimulation by LH-releasing hormone. Helv. paediat. Acta 30, 232–238 (1975)
Kaplan, S. L., Grumbach, M. M., Hoyt, W. F.: A Sindrome of Hypopituitary Dwarfism, Hypoplasia of Optic Nerves, and Malformation of Prosencephalon: Report of 6 Patients. Pediatr. Res. 4, 480–481 (1970)
Marshall, W. A., Tanner, J. M.: Variation in pattern of pubertal changes in girls. Arch. Dis. Child. 44, 291–303 (1969)
Murphy, B. E. P., Pattee, C. J.: Determination of Thyroxine Utilizing the Property of Protein-binding. J. Clin. Endocrinol. Metab. 24, 187–196 (1964)
Patel, H., Wah Jun Tze, Crichton, J. U., McCormick, A. Q., Robinson, G. C.: Optic Nerve Hypoplasia with Hypopituitarism. Am. J. Dis. Child. 129, 175–180 (1975)
Toublanc, J. E., Chaussain, J. L., Lejeune, C., De Paillerets, F., Job, J. C.: Hypopituitarisme avec hypoplasie des nerfs optique (Syndrome de Kaplan, Grumbach et Hoyt). Arch. Franc. Pediatr. 33, 67–75 (1976)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Lovrenčić, M.K., Oberiter, V., Banovac, Z.R. et al. Pituitary function in a patient with septo-optic dysplasia and pituitary dwarfism (Kaplan-Grumbach-Hoyt syndrome). Eur J Pediatr 129, 47–53 (1978). https://doi.org/10.1007/BF00441373
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00441373