A familial syndrome of isolated "aplasia" of the anterior pituitary. Diagnostic studies and treatment in the neonatal period.
A male newborn infant developed hypoglycemia, collapsed, and convulsed at eight hours of age. The diagnosis of pituitary "aplasia" was suspected, because of a previously affected female sibling, and treatment with glucocorticoids was instituted. Diagnostic studies revealed a deficiency of thyrotropin, growth hormone, and prolactin. He is now six months of age and is thriving on replacement therapy. Analysis of previous reports of this entity indicates that isolated "aplasia" of the anterior pituitary is a genetic syndrome with an autosomal recessive mode of transmission. The course in this patient suggests that this disorder, if diagnosed, is amenable to therapy.
Sadeghi-Nejad
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Department of Pediatrics, Tufts University School of Medicine, Pediatric Endocrine-Metabolic Service, New England Medical Center Hospitals (Boston Floating Hospital for Infants and Children), Boston, Mass., USA.
Senior
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B
D003348:Cortisone / Q000031:analogs & derivatives* / Q000627:therapeutic use; D019382:Human Growth Hormone / Q000097:blood / Q000627:therapeutic use; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010900:Pituitary Diseases / Q000097:blood / Q000188:drug therapy / Q000235:genetics; D010903:Pituitary Gland, Anterior / Q000002:abnormalities*; D011388:Prolactin / Q000097:blood; D013963:Thyroid Hormones / Q000627:therapeutic use; D013972:Thyrotropin / Q000097:blood
D013963:Thyroid Hormones; D019382:Human Growth Hormone; D011388:Prolactin; D013972:Thyrotropin; D003348:Cortisone