Author(s): Margalith D, Tze WJ, Jan JE
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Abstract Sixteen children had congenital optic nerve hypoplasia and hypothalamic-pituitary dysplasia. Investigation disclosed an extremely variable spectrum of neuroendocrinological findings that ranged from deficiency to hypersecretion of trophic hormone. Neuroendocrine abnormalities consisted mainly of trophic hormone deficiencies, the most common being growth hormone deficiency, but trophic hormone hypersecretion, including growth hormone, corticotropin, and prolactin was found as well. The extent of anterior pituitary hormone deficiency was variable. Anti-diuretic hormone deficiency was presented in two patients. Our findings support the concept of hypothalamic defect as the major cause for the pituitary dysfunction in this syndrome. Physicians should be aware of this syndrome as a common cause for growth failure and multiple pituitary hormone deficiencies in visually impaired children, which would facilitate the diagnosis and early institution of therapy for this treatable but potentially serious entity.
This article was published in Am J Dis Child
and referenced in Journal of Clinical Case Reports