Pituitary Hypoplasia in Patients with a Mutation in the Growth hormone–releasing Hormone Receptor Gene
Robert A. Murraya,
Hiralal G. Maheshwaria,
Eric J. Russella and
Gerhard Baumann
,a
a From the Departments of Radiology (R.A.M., E.J.R.) and Medicine (H.G.M., G.B.) and the General Clinical Research Center, Northwestern University Medical School, Chicago, IL.
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FIG 1. Representative patient (left; age, 25 years; height, 124 cm) affected by a homozygous nonsense mutation in the GHRH receptor, shown together with a normal-statured cousin (right; age, 22 years; height, 169 cm).
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FIG 2. Fat-suppressed T1-weighted MR images of four adult male dwarfs show the pituitary area affected by a mutation in the GHRH receptor. An MR study of a normal 25-year-old man is shown at the top for comparison. The four lower panels show, in sequence (upper left to lower right), MR images of four patients (ages, 22, 27, 27, and 29 years, respectively). Note the hypoplastic anterior pituitary and the normal posterior lobe. As a result of adenohypophyseal hypoplasia, the neurohypophyseal "bright spots" appear very prominent. The MR image of the patient shown in figure 1 is on the upper left.
A, Sagittal views. All images were obtained without the administration of contrast material.
B, Coronal views. The coronal image on the lower right was obtained after the administration of contrast material; all others were obtained without the administration of contrast material.
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