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Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. | LitMetric

The clinical, neuroradiologic, and endocrine features in 16 patients with septo-optic dysplasia are reviewed. All of the patients had clinical optic nerve hypoplasia with varying degrees of nystagmus and visual impairment. Only one-half of the patients had absence of the septum pellucidum. Fourteen children were growth hormone deficient, 9 were adrenocorticotrophic hormone deficient, 3 were thyroid-stimulating hormone deficient, and 4 had diabetes insipidus. In most instances, the diagnosis of septo-optic dysplasia can be established by physical examination and neuroradiologic findings, at which point a thorough evaluation of the hypothalamic-pituitary endocrine function is indicated because of the high incidence of hypopituitarism with this syndrome.

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http://dx.doi.org/10.1530/acta.0.1070282DOI Listing

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