Abstract
We have suggested that ‘idiopathic” hypopitutiaty dwarfism (IHP) is a heterogenous disorder of disparate pathogenesis [New Engl. J. Med. 278: 54, 1968]. Among a group of 36 children with sporadic IHP (16 isolated GH and 20 multiple pituitaru deficiencies) in whom mass lesions were excluded, 6 patients (3F, 3M) had a distinctive clinical entity of dwarfism, opticnerve dysplasia, and midline abnormalities of the prosencephalon. The findings included: congential diabetes insipidus in 2; bilateral hypoplasia of optic nerves with small optic discs in 6; pendular, dysjunctive nystagmus in 5; bilateral amblyopia in 3; inconstant, irregular field defects in 5; and documented growth hormone deficiency in 6 with multiple tropic hormone deficencies in 4/6. In 3 of 4 pateints, in whom a PEG was performed, absence of septum pellucidum, thin optic nerves and chiasm, abnormal fornices, irregular lamina terminalis, and an a abnormally shaped 3rd ventricle with small inferior pointing diverticulum from the optic recess were demonstrable. The sella turcica and suprasellar cistern were noted in 2 of 4 patients tested; I. Q. was normal or mildly subnormal in 6. No evidenve of ocular abnormalities of dwarfism was noted in the parents of sibs of the 6 patients. Hence, sporadic hypopituitary dwarfism is not uncommonly associated with a characteristic congenital malformation of the prosencephalon. The hypopitutiarism is ascribable to a diencephalic defect which results in deficiency of hypothalaminc hypophysiotropic factors and in some cases vasopressin.
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Kaplan, S., Grumbach, M. & Hoyt, W. A Syndrome of Hypopituitary Dwarfism, Hypoplasia of Optic Nerves, and Malformation of Prosencephalon: Report of 6 Patients. Pediatr Res 4, 480–481 (1970). https://doi.org/10.1203/00006450-197009000-00182
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DOI: https://doi.org/10.1203/00006450-197009000-00182
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