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Horm Res Paediatr. 2017;88(3-4):251-257. doi: 10.1159/000479029. Epub 2017 Aug 22.

Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia.

Author information

1
The Vision Center, Children's Hospital Los Angeles, Los Angeles, California, USA.
2
Department of Ophthalmology, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
3
Department of Endocrinology, Diabetes, and Metabolism, Children's Hospital Los Angeles, Los Angeles, California, USA.
4
The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, California, USA.
5
Department of Radiology, Children's Hospital Los Angeles, Los Angeles, California, USA.

Abstract

BACKGROUND:

Optic nerve hypoplasia (ONH), a leading cause of pediatric blindness, is associated with brain malformations and hypopituitarism in the constellation known as septo-optic dysplasia. Neuroimaging is used to anticipate hypopituitarism, but with unconfirmed reliability. We report prospective findings on the association of hypopituitarism with brain malformations.

METHODS:

Children (<24 months) with ONH (n = 146; 87% bilateral) underwent baseline MRI and annual examinations and hormonal testing. Hypopituitarism status at age 5 years was classified.

RESULTS:

A total of 74% had brain malformation(s). Hypopituitarism (69%) was not associated with brain malformations (p = 0.351); this persisted after adjusting for the laterality of ONH and the timing of MRI (padj = 0.869). No association was noted for absent septum pellucidum (38%; p = 0.073), corpus callosum abnormality (51%; p = 0.625), and major malformations (22%; p = 0.407). A malformation conferred a positive predictive value of 71% (95% CI: 62%, 80%), and a negative predictive value of 37% (95% CI: 22%, 54%). Overall, 10% (n = 15) of the cohort presented with a triad of absent septum pellucidum, corpus callosum abnormality, and other major malformation; only half (n = 8) of these had hypopituitarism. All 13 subjects with pituitary malformations manifested hypopituitarism, conferring predictive values of 100% (positive) and 34% (negative).

CONCLUSIONS:

Hypopituitarism and brain malformations are highly prevalent, but have unrelated associations with ONH. Brain MRI in infants and toddlers with ONH is an unreliable screen for hypopituitarism risk.

KEYWORDS:

Cerebral malformation; Hypopituitarism; Optic nerve hypoplasia; Pituitary gland; Septo-optic dysplasia

PMID:
28848142
PMCID:
PMC5647222
DOI:
10.1159/000479029
[Indexed for MEDLINE]
Free PMC Article

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