Abstract
Twin boys with hypopituitarism, hypoplasia of the anterior pituitary gland. ectopic posterior pituitary tissue and paracentric inversion of the short arm of chromosome 1 are described. The smooth appearance at the base of the median eminence and the absence of a pituitary stalk at autopsy in these boys implies that the hypopituitarism resulted from a developmental aberration. It remains to be determined if there is a casual relationship between the chromosome 1 anomaly and hypopituitarism.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Choristoma / diagnosis
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Choristoma / genetics*
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Chromosome Aberrations / diagnosis
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Chromosome Disorders
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Chromosome Inversion*
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Chromosomes, Human, Pair 1*
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Diseases in Twins / diagnosis
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Diseases in Twins / genetics*
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Humans
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Hypopituitarism / genetics*
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Hypopituitarism / pathology
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Hypothalamic Diseases / diagnosis
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Hypothalamic Diseases / genetics
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Infant, Newborn
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Karyotyping
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Male
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Median Eminence
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Pituitary Gland, Anterior / pathology
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Pituitary Gland, Posterior*
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Twins, Monozygotic