title: Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature.
abstract: DiGeorge syndrome or anomaly consists of a developmental field defect which is characterized by congenital absence or hypoplasia of the thymus and parathyroids, as well as facial dysmorphism and congenital heart defects. Other congenital malformations may coexist, in particular, thyroid abnormalities. A case of congenital hypothyroidism and DiGeorge syndrome is reviewed. Necropsy, clinical, and experimental studies also show that thyroid abnormalities may be a feature of DiGeorge syndrome. Although this could be purely coincidental, our case suggests that thyroid gland dysgenesis may be more common than previously thought. Thus, children with the DiGeorge syndrome may be at higher risk for hypothyroidism. Because of this potential association, patients who are considered to have this anomaly should have early newborn thyroid screening.
authors.affiliation: Department of Pediatrics, Montreal Children's Hospital, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Scuccimarri
authors.forename: C
authors.initials: C
authors.lastname: Rodd
mesh_terms: D000328:Adult; D003409:Congenital Hypothyroidism; D004062:DiGeorge Syndrome / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000150:complications; D007231:Infant, Newborn; D015997:Neonatal Screening; D013961:Thyroid Gland / Q000002:abnormalities*