Journal Detail Information

1

Cite

Share

A Case of Cerebral Gigantism(Sotos Syndrome).

Sang Bum KIM ; Seung YANG ; Hong Dae KIM ; Phil Soo OH ; Jae Kook CHA ; Jeh Hoon SHIN

Journal of Korean Society of Pediatric Endocrinology.2002;7(1):122-127.

Cerebral gigantism(Sotos syndrome) is a growth disorder that consists of large size at birth, rapid early growth rate with accompanying advanced bone age, acromegalic features, and developmental delay. Clumsiness in the absence of other abnormal neurologic findings is common. The cause is unknown. We report here a case of 238/12-year-old Sotos syndrome with final adult height above 97 percentile, abnormal brain MRI findings(large ventricles, prominent trigone, prominent occipital horn & thining of corpus callosum), clumsiness, and some behavioral problems.
Adult ; Animals ; Brain ; Growth Disorders ; Horns ; Humans ; Magnetic Resonance Imaging ; Neurologic Manifestations ; Parturition ; Sotos Syndrome

2

Cite

Share

Genetic Analysis in a Case of Transient Neonatal Diabetes Mellitus with Congenital Adrenal Hyperplasia.

Hye Jin KWON ; Jin A PARK ; Sang Lack LEE ; Heung Sik KIM ; Dong Seok JEON ; Dong Kyu JIN ; Pyoung Han HWANG

Journal of Korean Society of Pediatric Endocrinology.2002;7(1):116-121.

A case of transient neonatal diabetes mellitus combined with congenital adrenal hyperplasia(CAH) is described. A female infant was born by cesarean delivery due to fetal distress, she had sunken eyeball and anterior fontanelle, large protruded tongue and thin subcutaneous tissues. She had large clitoris and progressive pigmentation on whole body was observed since 10th day of birth. Hyperglycemia and glycosuria was noted at 3rd day of birth. Level of insulin and C-peptide was 3.0 mU/L and 0.35 ng/mL respectively. Serum ACTH was 870.4 pg/mL and 17-hydroxyprogesterone was increased to 20,000 ng/dL. Serum Na was 124 mEq/L, K 5.6 mEq/L. Abdominal MRI showed no abnormality. Chromosomal study showed 46,XX. Genetic analysis with polymorphic DNA markers for chromosome 6 showed paternal uniparental isodisomy at D6S276, D6S1704 and DNA analysis of CYP 21 gene showed mutation at P435S. She required insulin therapy for 8 months after birth. Hydrocortisone and florinef was needed for the control of CAH.
17-alpha-Hydroxyprogesterone ; Adrenal Hyperplasia, Congenital* ; Adrenocorticotropic Hormone ; C-Peptide ; Chromosomes, Human, Pair 6 ; Clitoris ; Cranial Fontanelles ; Diabetes Mellitus* ; DNA ; Female ; Fetal Distress ; Genetic Markers ; Glycosuria ; Humans ; Hydrocortisone ; Hyperglycemia ; Infant ; Insulin ; Magnetic Resonance Imaging ; Parturition ; Pigmentation ; Subcutaneous Tissue ; Tongue ; Uniparental Disomy

3

Cite

Share

A Case of Follicular Adenoma Occurring in Congenital Goiter due to Dyshormogensis.

Jung Chul KIM ; Hyun Seup SIM ; Myoung Jea KANG ; Dae Yeol LEE

Journal of Korean Society of Pediatric Endocrinology.2002;7(1):112-115.

Follicular adenoma is a benign encapsulated tumor with evidence of follicular cell differentiation. It is the most common thyroid neoplasm, usually solitary and has a well-defined fibrous capsule. We experienced a case of follicular adenoma occurring in congenital goiter and reported with the brief review of related literature
Adenoma* ; Cell Differentiation ; Goiter* ; Thyroid Neoplasms

4

Cite

Share

Clinical Characteristics Study of Pseudohypoparathyroidism.

Im Jeong CHOI ; Jung Sub LIM ; Choong Ho SHIN ; Sei Won YANG

Journal of Korean Society of Pediatric Endocrinology.2002;7(1):105-111.

PURPOSE: Pseudohypoparathyroidism(PHP) is caused by a defect of G protein and receptor despite of normal parathyroid hormone(PTH) secretion. It is a rare disorder characterized by hypocalcemia, hyperphophatemia, elevated PTH levels and albright hereditory osteodystrophy(AHO). We retrospectively reviewed the clinical characteristics of PHP. METHODS: We reviewed clinical features, laboratory findings, and outcome to treatment of 8 PHP patients, diagnosed at Seoul National University Hospital from 1988 to rool. RESULTS: Male to Female ratio was 1.7:1 and mean age at diagnosis was 11.8 years old. The initial average height SDS was 0.13+/-.08 and the average weight SDS was 0.43+/-.31. The most common symptom was seizure. Only one patient had typical AHO, three patients had mental retardation. Brain MRI or CT showed basal ganglia calcification in 3 patients. All patients treated with vitamin D and calcium supplementation could maintained normal serum levels of calcium and phophorus. CONCLUSION: PHP should be suspected in patient with seizure of unknown origin, aged above 5 year-old. AHO and mental retardation could be adjuvant signs to the diagnosis of PHP. But definite diagnosis could be made by laboratory work up.
Basal Ganglia ; Brain ; Calcium ; Child, Preschool ; Diagnosis ; Female ; GTP-Binding Proteins ; Humans ; Hypocalcemia ; Intellectual Disability ; Magnetic Resonance Imaging ; Male ; Pseudohypoparathyroidism* ; Retrospective Studies ; Seizures ; Seoul ; Vitamin D

5

Cite

Share

Clinical Characteristics of Symptomatic Hypocalcemic Infants.

Joon Young SONG ; Young Lim SHIN ; Han Wook YOO

Journal of Korean Society of Pediatric Endocrinology.2002;7(1):95-104.

PURPOSE: The purpose of this study was to evaluate clinical manifestation, etiology and prognosis of hypocalcemic infants who were admitted with seizure. METHODS: We reviewed medical records of 32 infants admitted at the Asan Medical Center with hypocalcemic seizure retrospectively. We classified patients into vitamin D deficiency group(n=7, 21.9%), transient hypoparathyroidism group(n=4, 12.5%), relative hypoparathyroidism with hyperphosphatemia group(n=16, 50%), and others(n=5, 15.6%) according to the laboratory results. RESULTS: Of the 32 patients, 29 patients were improved. There were no differences in gestational age and birth weight among the three groups. In the vitamin D deficiency group, age of onset was later than those of the transient hypoparathyroidism group and relative hypoparathyroidism with hyperphosphatemia group(51.6+/-2.7 vs 8.3+/-.5, 8.2+/-.6 days). In the age when all laboratory results were normalized, transient hypoparathyroidism group was younger than those of vitamin D deficiency group and relative hypoparathyroidism group(33.2+/-4.6 vs 93.6+/-8.5, 77.1+/-2.4 days). In the total treatment period, relative hypoparathyroidism with hyperphosphatemia group was longer than those of vitamin D deficiency group and transient hypoparathyroidism group(68.9+/-3.5 vs 42.0+/-5.0, 25.0+/-4.3 days). Others included two 22q11.2 deletion syndrome patients, a congenital hypoparathyroidism, a pseudohypoparathyroidism, and an early neonatal hypocalcemia. CONCLUSION: Transient hypoparathyroidism and hyperphosphatemia were major causes of neonatal hypocalcemia. And high calcitonin and peripheral organ resistance to parathyroid hormone act on hypocalcemia. In infants after one month, vitamin D deficiency was also an important cause of hypocalcemia. Most of the patients were improved within 1-2 months after proper management, but relative hypoparathyroidism with hyperphosphatemia group needed longer treatment. So, it is necessary to perform a systematic study for several complex causes that explain above fact.
Birth Weight ; Calcitonin ; Chungcheongnam-do ; DiGeorge Syndrome ; Gestational Age ; Humans ; Hyperphosphatemia ; Hypocalcemia ; Hypoparathyroidism ; Infant* ; Medical Records ; Parathyroid Hormone ; Prognosis ; Pseudohypoparathyroidism ; Retrospective Studies ; Seizures ; Vitamin D Deficiency

6

Cite

Share

Growth Status, Calcium Regulating Hormones and Bone Mineral Density in Children with Intractable Epilepsy.

Yoon Kyung CHO ; Mi Jung PARK ; Heung Dong KIM

Journal of Korean Society of Pediatric Endocrinology.2002;7(1):87-94.

PURPOSE: Abnormalities in calcium(Ca), vitamin D and bone mineral density (BMD) associated with antiepileptic drug(AED) are reported, but the results are inconsistent. In case of intractable epilepsy, poor growth and altered bone mineral metabolism may be prominent, possibly related to previous long-term use of multiple AED and poor activity. The aim of this study was to assess growth status, concentrations of calcium regulating hormones and BMD in children with intractable epilepsy. METHODS: Sixty-six intractable epilepsy patients aged 0.8 to 14.7 years(mean+/-D:4.6+/-.6 years) were included in the study. Height and weight were measured and then height SDS and weight SDS were calculated. Serum Ca, i-Ca, P, Mg, Zinc, osteocalcin, intact-PTH, 25-OHD, 1,25(OH)2D were measured. BMD of the lumbar spine was measured by dual energy X-ray absorption. RESULTS: Most of the patients showed normal height SDS and weight SDS. Percentage of severe short stature(height SDS <-2) was 1.5% and tall stature(height SDS >2) was 4.5%. Percentage of severe thin(weight SDS <-2) was 1.5% and obesity(weight SDS >2) was 6%. Duration of AED was not related to height SDS or weight SDS. Etiology of epilepsy and physical activity were not related to height SDS and weight SDS. Most of them had normal Ca, iCa, P, Mg, Zinc, intact-PTH, osteocalcin, 25-OHD and 1,25(OH)2D concentrations. BMD was not related to the levels of Ca, i-Ca, P, Mg, intact-PTH, osteocalcin, 25-OHD, 1,25(OH)2D. BMD was not related to the duration of AED. BMD positively correlated with age(r=0.75, P>0.01) and body weight(r=0.72, P<0.01). CONCLUSION: Most of the children with intractable epilepsy, who regularly visits epilepsy clinic, showed normal growth and normal bone mineral metabolism, but careful monitoring about growth and bone mineral metabolism is needed.
Absorption ; Bone Density* ; Calcium* ; Child* ; Epilepsy* ; Humans ; Metabolism ; Motor Activity ; Osteocalcin ; Spine ; Vitamin D ; Zinc

7

Cite

Share

The Clinical Characteristics of Children with Organic Growth Hormone Deficiency from Brain Tumors.

Eun Gyong YOO ; Duk Hee KIM

Journal of Korean Society of Pediatric Endocrinology.2002;7(1):77-86.

PURPOSE: This study is designed to find out the clinical characteristics, growth status, and response to growth hormone treatment in children with organic growth hormone deficiency(GHD) after treatment of brain tumors. METHODS: Fifty-three children with organic GHD were evaluated for pituitary function, serum insulin-like growth factor-1(IGF-1), and insulin-like growth factor binding protein-3(IGFBP-3) concentrations. We also observed their growth status and corresponding change with or without growth hormone treatment. RESULTS: The causes of organic GHD were craniopharyngioma(47%), germinoma (19%), and medulloblastoma(17%), and 18 children(35%), diagnosed with brain tumors, presented with symptoms suggesting hormonal deficit. Initial height was -2.5+/-.2 SDS in craniopharyngioma, -1.7+/-.1 SDS in germinoma, and -2.1+/-.6 SDS in medulloblastoma, and children with craniopharyngioma showed the highest obesity rate, at 21.4+/-9.3%. After treatment for brain tumors, children with craniopharyngioma had the lowest values of peak GH, IGF-1, and IGFBP-3 concentrations, which were 1.1+/-.3 ng/mL, 74.1+/-6.6 ng/mL(-1.7+/-.2 SDS), and 1.9+/-.0 mg/L(-2.0+/-.1 SDS) respectively. The numbers of deficient hormones increased from 2.4+/-.1 to 3.2+/-.2 after treatment of brain tumors(P<0.05). Nine children showed normal or accelerated growth velocity(growth velocity 7.0+/-.8 cm/yr) without GH replacement and they had higher body mass index(BMI), IGF-1 concentrations, and IGFBP-3 SDS(P<0.05) compared to the others(growth velocity 1.9+/-.9 cm/yr). Height SDS increased every year during the first three years of GH treatment(P<0.05), 0.5+/-.4 SDS(n=20) for the first year, 0.4+/-.4 SDS(n=14) for the second, and 0.3+/-.5 SDS(n=11) for the third, and it increased by 1.1+/-.9 SDS(n=11) in total. CONCLUSION: The numbers of deficient pituitary hormones were increased after operation, irradiation, and/or chemotherapy. Children with GHD showed good response to GH replacement. Some children grew normally in spite of growth hormone deficiency, and their BMI, serum levels of IGF-1 and IGFBP-3 SDS were increased compared to those of the decreased growth group. This study suggests that further studies are needed to determine the mechanism of growth with low GH concentrations.
Brain Neoplasms* ; Brain* ; Child* ; Craniopharyngioma ; Drug Therapy ; Germinoma ; Growth Hormone* ; Humans ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor I ; Medulloblastoma ; Obesity ; Pituitary Hormones

8

Cite

Share

Frequencies and Risk Factors for Microvascular Complications in Patients with Type 1 Diabetes Mellitus.

Mi Rang LIM ; Young Lim SHIN ; Han Wook YOO

Journal of Korean Society of Pediatric Endocrinology.2002;7(1):69-76.

PURPOSE: This study was undertaken to identify the frequencies and the risk factors of microvascular complications in subjects with type 1 diabetes mellitus METHODS: The frequencies and their relation to risk factors of microvascular complications were analyzed in 29 type 1 diabetes mellitus subjects with duration of disease more than 5 years. Microvascular disease was defined as the presence of either retinopathy, microalbuminuria or neuropathy. RESULTS: The overall prevalence rate of microvascular disease was 8/29(27.6%). Retinopathy has developed in 3 patients(10.3%), microalbuminuria in 7 patients(24.0 %) and neuropathy in 5 patients(17.2%). The mean HbA1C was significantly higher in the patients with microvascular complications(11.6+/-.2% in microvascular complication group vs 9.3+/-.6% in control group). CONCLUSION: In childhood onset type 1 diabetes mellitus, poor glycemic control is an important risk factor for microvascular complications.
Diabetes Mellitus, Type 1* ; Humans ; Prevalence ; Risk Factors*

9

Cite

Share

Growth Status in Children with Type 1 and 2 Diabetes Mellitus.

Du Cheol KANG ; Eun Gyeog YOO ; Duk Hee KIM

Journal of Korean Society of Pediatric Endocrinology.2002;7(1):61-68.

PURPOSE: It is well known that linear growth in diabetic children is closely related to metabolic control and age of onset. Some studies showed growth retardation in diabetic children regardless of the degree of metabolic control, whereas others reported no growth impairment. Until now, no study has been done comparing linear growth between type 1 and type 2 diabetic children. Therefore, we compared the growth and weight status between type 1 and type 2 diabetic children. METHODS: 145 children with type 1 DM and 27 patients with type 2 DM were studied. Their growth status in height standard deviation score(HTSDS), obesity according to standard weight for height and body mass index(BMI), and HbA1c level at onset, 6 months, 1 year, 3 years and 5 years after treatment were compared. RESULTS: There was no distinct correlation in HTSDS in type 1 and type 2 DM, but in type 2 DM obesity according to standard weight for height and BMI was higher than in type 1 DM. deltaHTSDS 5 years after treatment of diabetic children with poor glycemic control were significantly decreased(P<0.05), but there was no significant correlation between HbA1c and obesity according to standard weight for height and BMI. CONCLUSION: There is no significant correlation between the type of diabetes and growth status, but the poor glycemic controled group showed a significant decrease in deltaHTSDS. These data suggest that the growth of diabetic children could be impaired in the case of poor glycemic control and long duration of diabetes.
Age of Onset ; Child* ; Diabetes Mellitus* ; Diabetes Mellitus, Type 1 ; Diabetes Mellitus, Type 2 ; Humans ; Obesity

10

Cite

Share

Neuroendocrine Control of Food Intake.

Mi Jung PARK

Journal of Korean Society of Pediatric Endocrinology.2002;7(1):51-58.

No abstract available.
Eating*

DISPLAY OPTIONS

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share