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Clinical Pediatrics, Vol. 23, No. 11, 632-636 (1984)
DOI: 10.1177/000992288402301105

The Endocrine Spectrum of Septo-optic Dysplasia

Neil Izenberg, MD

Division of Endocrinology and Section on Adolescent Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania and the Division of Pediatric Endocrinology, Emory University School of Medicine, Atlanta, Georgia

Mindy Rosenbtum, MD

Division of Endocrinology and Section on Adolescent Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania and the Division of Pediatric Endocrinology, Emory University School of Medicine, Atlanta, Georgia

John S. Parks, MD, PhD

Division of Endocrinology and Section on Adolescent Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania and the Division of Pediatric Endocrinology, Emory University School of Medicine, Atlanta, Georgia

Six children with septo-optic dysplasia were evaluated at the Children's Hospital of Philadelphia. There was a common history of young, nulliparous mothers. The clinical presentation of these children differed according to age of presentation and was a function of the degree and type of hypctthalamic-prituitary and ophthalmologic impairment.

Endocrine evaluation revealed four of six children to be growth hormone deficient, four of six to have hypothalamic hypothyroidism, and two of four to have elevated prolactin levels. One of the patients demonstrated adrenocorticotropic hormone deficiency, and one had diabetes insipidus. Neuroanatomic findings in the children were variable, but, in general, the rare syndrome did not carry as grave a morbidity as had been reported previously. Our data support a high degree of hypothalamic impairment in septo-optic dysplasia.


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