Search

  • HOME
  • Search
Original Article
Endocrinology
Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome
Kyo Jin Jo, Yoo Mi Kim, Ju Young Yoon, Yeoun Joo Lee, Young Mi Han, Han-Wook Yoo, Hyang-Sook Kim, Chong Kun Cheon
Clin Exp Pediatr. 2019;62(7):274-280.   Published online December 3, 2018

Purpose: To analyze the growth response to growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations. Methods: Twenty-three patients with prepubertal NS treated at Pusan National University Children’s Hospital between March 2009 and July 2017 were enrolled. According to the disease-causing genes identified, the patients with NS were divided into 4 groups. Three groups were...
Case Report
Endocrinology
Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome
Mi Ji Lee, Byung Young Kim, Jae Sook Ma, Young Earl Choi, Young Ok Kim, Hwa Jin Cho, Chan Jong Kim
Clin Exp Pediatr. 2016;59(Suppl 1):S112-S115.   Published online November 30, 2016

Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily....

A Case of Congenital Pulmonary Lymphangiectasia in Noonan Syndrome
Dong Hee Lee, Won Bae Kim, Jung Hye Choi, Su Nam Lee
Clin Exp Pediatr. 1997;40(6):877-882.   Published online June 15, 1997
Congenital pulmonary lymphangiectasia is a rare and perphaps underestimated cause of fatal respiratory distress in the neonate or infant. Pathologically, this condition is characterized by wide lymphatic channels in the subpleural and peribronchovascular spaces and the interlobular septa. Noonan syndrome is characterized by a phenotype similar to Turner syndrome but with a normal karyotype. Both pulmonary and intestinal lymphangiectasia have been reported in patients...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)