Abstract
Purpose:
To document the association of neurohypophyseal dysgenesis with hypopituitarism in a child with primary bilateral anophthalmia.
Methods:
An infant with bilateral anophthalmia underwent magnetic resonance imaging and endocrinologic evaluation.
Results:
Magnetic resonance imaging showed dysgenesis confined to the hypothalamus and hypophyseal stalk. Endocrinologic testing showed low serum cortisol and pituitary gonadotropin levels.
Conclusion:
Magnetic resonance imaging can help predict which children with anophthalmia will have endocrinologic deficiencies.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / blood
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Abnormalities, Multiple / genetics*
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Anophthalmos / blood
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Anophthalmos / genetics*
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Gonadotropins, Pituitary / blood
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Gonadotropins, Pituitary / deficiency
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Humans
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Hydrocortisone / blood
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Hydrocortisone / deficiency
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Hypopituitarism / blood
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Hypopituitarism / diagnosis*
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Hypopituitarism / genetics
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Hypothalamo-Hypophyseal System / abnormalities*
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Hypothalamo-Hypophyseal System / pathology*
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Infant, Newborn
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Magnetic Resonance Imaging
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Male
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Pituitary Hormones / blood
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Pituitary Hormones / deficiency*
Substances
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Gonadotropins, Pituitary
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Pituitary Hormones
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Hydrocortisone