• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.7-14
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• 2021

Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.5 no.2
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• pp.166-173
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• 2002

Purpose: Recurrent abdominal pain (RAP) is common, affecting between 7% and 25% of school-aged children and young adult. This study was designed to assess the relationship between RAP and depressive trends in school-aged children. Methods: In 1999, We surveyed 1,181 elementary school children (566 boys and 615 girls) whose ages ranged from 9 to 12 years. The degree of depression was compared between the group with RAP and normal control group without RAP according to Korean Children's Depression Inventory (CDI) of Kovacs and Beck. Results: The number of the group with RAP was significantly higher in female (25.7%) than in male (18.9%). The most common site of abdominal pain was periumbilical. The mean depression score in the group with RAP was higher than that of the control group. The depression score was significantly higher in the group with RAP who has frequently pain and additional symptoms. The depression score was significantly higher in the group with RAP who prefered to play alone, did not enjoy going to school and had few friends than in the group with RAP who had a lot of friends, had active and meticulous characters. The depression scores were not significantly different according to the duration of abdominal pain, the onset time of pain, and the day of pain in the group with RAP. Conclusion: The depression score of the group with RAP was higher than that of normal group. So, there is relatively a specific association between childhood RAP and depression in school aged children. It is good for physicians to consider psychological support in the treatment of childhood RAP.

• Clinical and Experimental Pediatrics
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• v.50 no.2
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• pp.182-189
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• 2007

Purpose : The primary purpose of this study was to evaluate the growth and neuropsychologic function following treatments for pediatric hematologic and oncologic diseases. Healthy monozygotic twins served as ideal controls for comparison to exclude possible confounding factors. Methods : Seven children treated with various hematologic and oncologic diseases were included in the study: acute lymphoblastic leukemia (ALL; n=2), Diamond-Blackfan anemia twins (n=2), and aplastic anemia (n=3). The median age at the diagnosis was 5.2 (0.3-15) years. The median duration of follow-up was 7.2 (4.9-10) years. Controls were healthy monozygotic twins. Growth was measured and the percentile channels were evaluated sequentially for patients. The K-WISC III was applied and compared in 5 pairs of patients and controls. Results : Similar growth profiles were noted for the twins. The percentiles at diagnosis was 3-10 in 3, 25-50 in 2, and 50-75 in 2 cases. All patients stayed in their growth percentiles through follow-up, except for 1 patient who became obese. For IQ tests, the mean behavioral, verbal and full scale IQ scores of patients were 88.0, 93.8, and 89.8, respectively, and those from their corresponding controls were 92.2, 97.0, and 91.7 (P>0.05). However, 2 children who were treated for ALL had lower IQ scores. Conclusion : Similar growth profiles were observed in the monozygotic twins in terms of height and weight. The IQ scores of patients were similar to those of monozygotic twins. However, prophylactic CNS-directed therapy for leukemia might adversely affect the IQ scores. A further prospective study on larger number of twins is warranted.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.10 no.2
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• pp.129-137
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• 2007

Purpose: It has been reported that children with chronic pain have higher levels of anxiety than age-matched controls. Therefore, this study was designed to determine the relationship between anxiety and recurrent abdominal pain in elementary school children. Methods: In 2005, we surveyed 1,254 elementary school children (592 boys and 662 girls) whose ages ranged from 7 to 12 years. The degree of trait and state anxiety was compared between agroup suffering from intermittent abdominal pain, a group suffering from recurrent abdominal pain and a normal control group following the Korean version of Spielberger's State-Trait Anxiety Inventory YZ form (STAI-YZ). Results: 709 (56.5%) and 69 (5.5%) of the patients reported intermittent abdominal pain and and recurrent abdominal pain, respectively, during the 12 month period before this study was conducted, and trait and state anxiety values for each of these groups was 116 (9.3%) and 63 (5.0%), respectively. In addition, the State-Trait Anxiety score was significantly higher in the group with intermittent abdominal pain and RAP than the anxiety score of the normal control group. Additionally, the STAI-YZ score increased in proportion to the severity of abdominal pain, but was not correlated with the duration, frequency, onset time or location of abdominal pain. Furthermore, the proportion of the group with abdominal pain in the group that had trait or state anxiety was significantly higher than the proportion of the group that did not have trait and state anxiety. Conclusion: Recurrent abdominal pain during childhood is correlated with state and trait anxiety, therefore, psychological factors, such as anxiety duringtreatment, must also be considered when determining the cause of recurrent abdominal pain.