Abstract
An extreme dwarf 10-year-old boy was described. His clinical features resemble those of isolated GH deficiency type 1A, but the Southern blot analysis showed no gross deletion in the GH structural gene. Endocrinological evaluations showed severe GH and PRL deficiencies, and mild TSH deficiency. The simultaneous deficiencies of anterior pituitary hormones in our patient resemble those of the Snell and Ames dwarf mice and suggest a common etiology. The evolutionary and embryological similarities between GH and PRL imply that mutations at a gene which controls GH and PRL production in somatotropes and lactotropes or at a gene of which product affects the embryological development from a common ancestral cell in the anterior pituitary gland may be a primary defect in our patient.
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