Abstract
Septo-optic dysplasia (SOD) is a clinically heterogenous disorder defined by the presence of two or more of the following features: optic nerve hypoplasia, hypothalamic-pituitary dysfunction, and midline developmental abnormalities of the brain, including absent septum pellucidum and thinning or agenesis of the corpus callosum. Central diabetes insipidus is reported in up to 20% of affected individuals and when present, nearly always occurs in conjunction with anterior pituitary hormone deficits. Neuroanatomic findings, including ectopic posterior pituitary and pituitary stalk abnormalities, have been associated with increased risk of pituitary dysfunction but incompletely predict evolution of endocrinopathy. Longitudinal assessment of pituitary function is required as deficiencies not present initially may develop over time.
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Abbreviations
- ACTH:
-
Adrenocorticotrophic hormone
- DI:
-
Diabetes insipidus
- GH:
-
Growth hormone
- IGF-1:
-
Insulin-like growth factor 1
- IGF-BP3:
-
Insulin-like growth factor-binding protein 3
- MRI:
-
Magnetic resonance imaging
- SOD:
-
Septo-optic dysplasia
- TSH:
-
Thyroid stimulating hormone
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Rosenfeld, E. (2021). Septo-optic Dysplasia Spectrum. In: Alter, C.A. (eds) Diabetes Insipidus in Children. Springer, Cham. https://doi.org/10.1007/978-3-030-83248-3_12
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DOI: https://doi.org/10.1007/978-3-030-83248-3_12
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