Facial metrics in children with corticotrophin-producing pituitary adenomas suggest abnormalities in midface development

Abstract

Background: Tumors of the hypothalamic-pituitary unit have been linked to genetic syndromes that are associated with midfacial abnormalities.

Aim: We hypothesized that mutations of genes that affect the development of the face (and consequently of the anterior pituitary) may be present in children with ACTH-producing pituitary adenomas, and if this is true then facial measurements would be different from those predicted by parental features.

Methods: We studied 20 children with corticotropinomas and a control group and their parents. All facial measurements were expressed according to standard deviation scores.

Results: Significant differences were seen between the children with pituitary adenomas and their parents for vertical facial height measures: nasal length (p < 0.001), lower facial height (p < 0.03) and overall facial height (p < 0.01).

Conclusion: We conclude that some of the indices of midline craniofacial development, in particular those affecting the vertical axis, are different in children with corticotroph adenomas producing ACTH.

Trial registration: ClinicalTrials.gov NCT00001595.

Figures

Fig 1

Child with pituitary Cushing’s disease and family members. Z-scores for craniofacial measurements are shown in parentheses.