title: Parathyroid function and growth in 22q11.2 deletion syndrome.
abstract: OBJECTIVE
  To determine the frequency and expression of hypoparathyroidism and the factors of short stature in 22q11.2 deletion syndrome to optimize clinical care.
  
  
  METHODS
  Cross-sectional study of 39 patients 9.7 +/- 0.8 (2.5-20) years of age.
  
  
  RESULTS
  The congenital abnormalities were cardiac defects in 33 of 39, thymus hypoplasia in 15 of 18 evaluated, and craniofacial dysmorphy in all; 15 patients (39%) had had one or more seizures. Before evaluation, 12 patients were hypocalcemic, with (n = 4) or without clinical manifestations, diagnosed before 1 month in 10 cases, at 3 months or 12 years in two others. At evaluation, 9 patients were hypocalcemic, 5 of 9 had been hypocalcemic, and 8 others had parathyroid hormone (PTH) concentrations low for their ionized calcium. One had high PTH without hypocalcemia and 2 were hypercalcemic. The values were below -2 SD at birth for weight and/or height in 26% of cases and at evaluation for height and body mass index in 23% and for insulin-like growth factor-I in 37%.
  
  
  CONCLUSIONS
  Parathyroid function was abnormal in 27 of 39 (69%) patients. This was not diagnosed in the majority. Short stature was probably due to intrauterine growth restriction, underweight, and growth hormone deficiency, as suggested by low insulin-like growth factor I.
authors.affiliation: Université René Descartes and Pediatric Endocrinology Unit, Fondation-Hôpital Saint Joseph, Paris, France. raja.brauner@wanadoo.fr
authors.forename: Raja
authors.initials: R
authors.lastname: Brauner
authors.forename: Agnes
authors.initials: A
authors.lastname: Le Harivel de Gonneville
authors.forename: Catherine
authors.initials: C
authors.lastname: Kindermans
authors.forename: Jérone
authors.initials: J
authors.lastname: Le Bidois
authors.forename: Marguerite
authors.initials: M
authors.lastname: Prieur
authors.forename: Stanislaus
authors.initials: S
authors.lastname: Lyonnet
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Souberbielle
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D015992:Body Mass Index; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003394:Craniofacial Dysostosis / Q000150:complications; D003430:Cross-Sectional Studies; D005260:Female; D013006:Growth Hormone / Q000172:deficiency; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D006996:Hypocalcemia / Q000150:complications; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D008297:Male; D010279:Parathyroid Diseases / Q000150:complications* / Q000503:physiopathology; D011446:Prospective Studies; D012640:Seizures / Q000150:complications; D013577:Syndrome; D013950:Thymus Gland / Q000002:abnormalities
chemical_list: D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone