Abstract
To determine the frequency and expression of hypoparathyroidism and the factors of short stature in 22q11.2 deletion syndrome to optimize clinical care. Cross-sectional study of 39 patients 9.7 +/- 0.8 (2.5-20) years of age. 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%. 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...Continue Reading
Citations
Jul 5, 2005·Hormone Research·Jin-Ho ChoiHan-Wook Yoo
Oct 24, 2006·Hormone Research·Fayza Al-JenaidiEtienne Sochett
Jun 6, 2013·Case Reports in Endocrinology·Sira KorpaisarnChutintorn Sriphrapradang
Jan 25, 2007·Pain Medicine : the Official Journal of the American Academy of Pain Medicine·Melvin C GitlinEric D Lonseth
Aug 8, 2008·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Mishaela R RubinJohn P Bilezikian
Jan 9, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Wai Lun Alan FungAnne S Bassett
Nov 9, 2016·Journal of Developmental Origins of Health and Disease·L KelleyE A Beaton
Apr 20, 2017·American Journal of Medical Genetics. Part a·Yael Levy-ShragaDalit Modan-Moses
Mar 31, 2004·Pediatric Transplantation·Eba H Hathout, Richard E Chinnock
Jul 15, 2009·The Journal of Pediatrics·Alan F RopeRobert J Hopkin
Apr 17, 2014·Clinical Endocrinology·Evelyn Ning Man CheungAnne S Bassett
Nov 22, 2017·American Journal of Medical Genetics. Part a·Jelle F HomansRené M Castelein
Mar 18, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Chirag R KapadiaLorraine E Levitt Katz
Oct 7, 2005·American Journal of Medical Genetics. Part a·Anne S BassettMichael A Gatzoulis
Jun 2, 2014·Pediatric Cardiology·Janaína HuberLucia Campos Pellanda
Jun 17, 2011·Pediatric Cardiology·Li ShenLong Yi
Oct 8, 2014·Physiological Reviews·Christopher S Kovacs
Jan 15, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Abigail M BalesElizabeth W McPherson
Apr 29, 2015·Journal of Endocrinological Investigation·A FiccadentiG Balercia
May 1, 2015·Pediatrics International : Official Journal of the Japan Pediatric Society·Sachiko Fujii, Toshio Nakanishi
Sep 22, 2010·Arquivos brasileiros de endocrinologia e metabologia·João Miguel de Almeida SilvaClaudia Yamada Utagawa
Aug 14, 2012·American Journal of Medical Genetics. Part a·Daniel C TarquinioLynne M Bird
Nov 28, 2021·Journal of Clinical Medicine·Anna G W RosenbergLaura C G de Graaff