Parathyroid function and growth in 22q11.2 deletion syndrome.
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.
Brauner
Raja
R
Université René Descartes and Pediatric Endocrinology Unit, Fondation-Hôpital Saint Joseph, Paris, France. raja.brauner@wanadoo.fr
Le Harivel de Gonneville
Agnes
A
Kindermans
Catherine
C
Le Bidois
Jérone
J
Prieur
Marguerite
M
Lyonnet
Stanislaus
S
Souberbielle
Jean-Claude
JC
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
D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone