Growth hormone neurosecretory dysfunction in a boy with hypohidrotic/anhidrotic ectodermal dysplasia: Definition of short stature, molecular characterization and long-term hGH replacement treatment to final height

Anhidrotic/hypohidrotic ectodermal dysplasia is a rare disorder, genetically heterogeneous, commonly X-linked recessive inherited, characterized by hypoplasia up to the absence of the eccrine glands with hypo-anhidrosis and secondary hyperpyrexia, hypodontia and some typical craniofacial features. Some papers have described how these patients may show poor growth, while other recent research shows normal growth. We report a boy with anhidrotic/hypohidrotic ectodermal dysplasia and growth hormone neurosecretory dysfunction, an association not previously reported, and we discuss the possible causes as well as the patient's response to growth hormone treatment until he reached final height.