Article
Autosomal recessive deficiency of combined pituitary hormones (except ACTH) in a consanguineous Brazilian kindred.
Journal of endocrinological investigation - 1 Nov 1997
Nogueira C R, Leite C C, Chedid E P, Liberman B, Pimentel-Filho F R, Kopp P, Medeiros-Neto G A
Abstract excerpt
Familial hypopituitarism represents a clinically and genetically heterogeneous disorder. In a subset of these families, defects in Pit-I, a transcription factor essential for proper pituitary development have been identified as underlying molecular cause. These patients present extreme short stature, GH, PRL and TSH deficiency but intact ACTH, LH and FSH secretion. The pituitary is usually hypoplastic. In this...
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