Hypothalamic-hypophyseal dysgenesis as a neuroimaging correlate of pituitary hormone deficiency in anophthalmia.
OBJECTIVE
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.


CONCLUSIONS
Magnetic resonance imaging can help predict which children with anophthalmia will have endocrinologic deficiencies.
Department of Ophthalmology, University of Arkansas for Medical Sciences, USA.
M C
MC
Brodsky
J P
JP
Frindik
D000015:Abnormalities, Multiple / Q000097:blood / Q000235:genetics*; D000853:Anophthalmos / Q000097:blood / Q000235:genetics*; D006065:Gonadotropins, Pituitary / Q000097:blood / Q000172:deficiency; D006801:Humans; D006854:Hydrocortisone / Q000097:blood / Q000172:deficiency; D007018:Hypopituitarism / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D007030:Hypothalamo-Hypophyseal System / Q000002:abnormalities* / Q000473:pathology*; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010907:Pituitary Hormones / Q000097:blood / Q000172:deficiency*
D006065:Gonadotropins, Pituitary; D010907:Pituitary Hormones; D006854:Hydrocortisone