PURPOSE:Cardiovascular morbidity has recently been demonstrated to potentially reduce life expectancy in growth hormone deficiency(GHD). The aim of this study was to evaluate cardiovascular abnormalities and atherosclerotic changes in adults with childhood-onset GHD in whom GH treatment had been stopped at the achievement of final height. METHODS:Nine patients with childhood-onset GHD(7 idiopathic and 2 organic), with an age of 24.0+/-.0 year, were studied. Clinical characteristics of subjects were determined and blood pressure, body mass index(BMI), and serum concentrations of lipids were measured. Structural and functional evaluation of cardiovascular system was performed by M-mode echocardiography and linear phase array imaging transducer. RESULTS:BMI of patients was 27.3+/-.7 mg/m2, and four patients(44%) were overweight(BMI 25-30 mg/m2), but none was obese(BMI >30 mg/m2). The percentage of patients who had total cholesterol > or = 200 mg/dL, triglyceride > or = 150 mg/dL, LDL cholesterol > or = 140 mg/dL, and HDL cholesterol < or = 40 mg/dL were 56%, 44%, 33 %, and 44%, respectively. Interventricular septum thickness(IVST), left ventricular posterior wall thickness(LVPWT), left ventricular end-diastolic internal diameter (LVID), left ventricular mass index(LVMI) of patients were 6.4+/-2.1 mm(SDS -1.5+/-1.1), 6.3+/-1.2 mm(SDS -2.1+/-0.8), 44.9+/-4.3 mm(SDS -1.0+/-0.9), and 85.4+/-94.8 g/m2 (SDS -0.5+/-6.8), respectively. The number of patients whose IVST, LVPWT, LVID, and LVMI were decreased(<-2SD) were 4(44%), 5(56%), 1(11%), and 6(67%), respectively. Carotid artery intima-media thickness(IMT) was 0.86+/-0.22 mm, and it was increased(>2SD) in 3 patients(33%). Three out of four patients with IVST lower than -2SD had increased carotid artery IMT, whereas none of five patients with IVST higher than -2SD had increased carotid artery IMT. There were no differences in echocardiographic findings between groups according to sex, age, duration of disease, duration after GH discontinuation, BMI, and severity of dyslipidemia. CONCLUSION: Decreases in IVST, LVPWT, and LVMI, and an increase in carotid artery IMT were observed in a significant number of patients with childhood-onset GHD. These findings support the need of GH replacement after completion of growth and careful evaluation of cardiovascular changes in patients with childhood-onset GHD.
Adult* ; Blood Pressure ; Cardiovascular Abnormalities* ; Cardiovascular System ; Carotid Arteries ; Cholesterol ; Cholesterol, HDL ; Cholesterol, LDL ; Dyslipidemias ; Echocardiography ; Growth Hormone* ; Humans ; Life Expectancy ; Transducers ; Triglycerides

PURPOSE:Improved adult final height(FH) is a major goal in the treatment of children with short stature due to growth hormone deficiency(GHD). The purpose of this study was to evaluate final height in idiopathic and organic GHD children after long-term growth hormone(GH) treatment. METHODS:Twenty five(16 males and 9 females) patients with GHD(14 idiopathic and 11 organic GHD) were included. GHD was diagnosed by two or more GH provocation tests(peak GH level <10 ng/mL). All subjects had multiple pituitary hormone deficiencies, and aged 10.7+/-.5(5.5-14) years at the start of GH treatment. The patients were treated with GH 0.45-0.7 IU/kg/week in 3-7 divided doses for 6.9+/-.8(5.2-10) years. Treatment was ended when growth velocity reached lower than 2 cm/year and/or bone age reached 16 years. Standard auxologic measurements were performed at the start of GH treatment and at every 6 month after initial GH treatment. RESULTS:FH was 166.9+/-.8 cm, which was not significantly lower than target height(167.1+/-.9 cm) and predicted adult height(169.1+/-5 cm). FH SDS was significantly improved to -0.8+/-.5 compared with -3.4+/-.0 of height SDS at the start of GH treatment. The largest height increment was observed in the first year of GH treatment, with a gradual decrease in the following years. There was no difference in FH and FH SDS between idiopathic and organic GHD. Unwanted serious adverse events were not observed in all patients during GH therapy. CONCLUSION: Early diagnosis and continuous treatment with optimal doses of GH to near adult height improve the outcome in children with short stature due to idiopathic and organic GHD.
Adult ; Child* ; Early Diagnosis ; Growth Hormone* ; Humans ; Male

46,XX male is a rare abnormality of sex determination with an incidence of 1 in 20,000 male neonates. The clinical manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules, with altered hormonal levels at puberty. Less frequently, some sexual ambiguities are found, always with sterility owing to reduced testicular development. The origin of male phenotype in 46,XX male could be the results of at least three different mechanisms:translocations of Y sequence, including the SRY gene, to an X chromosome or to an autosome(about 90% of cases); a mutation in a yet unknown X-linked or autosomal gene in the testis-determinating pathway, and cryptic Y chromosome mosacism. We experienced a case of SRY-positive 46,XX male in a 21-year-old man with small testes. (J Korean Soc Pediatr Endocrinol 2003;8:184-188)
Adolescent ; Azoospermia ; Genes, sry ; Gynecomastia ; Humans ; Hyalin ; Hypogonadism ; Incidence ; Infant, Newborn ; Infertility ; Male* ; Phenotype ; Puberty ; Seminiferous Tubules ; Testis ; X Chromosome ; Y Chromosome ; Young Adult

46,XX male is a rare abnormality of sex determination with an incidence of 1 in 20,000 male neonates. The clinical manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules, with altered hormonal levels at puberty. Less frequently, some sexual ambiguities are found, always with sterility owing to reduced testicular development. The origin of male phenotype in 46,XX male could be the results of at least three different mechanisms:translocations of Y sequence, including the SRY gene, to an X chromosome or to an autosome(about 90% of cases); a mutation in a yet unknown X-linked or autosomal gene in the testis-determinating pathway, and cryptic Y chromosome mosacism. We experienced a case of SRY-positive 46,XX male in a 21-year-old man with small testes. (J Korean Soc Pediatr Endocrinol 2003;8:184-188)
Adolescent ; Azoospermia ; Genes, sry ; Gynecomastia ; Humans ; Hyalin ; Hypogonadism ; Incidence ; Infant, Newborn ; Infertility ; Male* ; Phenotype ; Puberty ; Seminiferous Tubules ; Testis ; X Chromosome ; Y Chromosome ; Young Adult

Agnogenic myeloid metaplasia (AMM) is a myeloproliferative disorder characterized by leukoerythroblastosis, tear-drop erythrocytes, extramedullary hematopoiesis with hepatosplenomegaly, and varying degrees of myelofibrosis. The mean age at presentation is about 60 years, and pediatric cases are rare. We experienced a case of AMM in a 9 months old female who was presented with pallor, huge splenomegaly and intermittent fever. Peripheral blood showed leukoerythroblastosis poikilocytosis, and tear drop cells. Bone marrow was difficult to aspirate, and biopsy specimen showed increased reticulin with decreased cellularity, which was compatible with myelofibrosis. We presented a case of AMM with brief review of the literatures.
Biopsy ; Bone Marrow ; Erythrocytes ; Female ; Fever ; Hematopoiesis, Extramedullary ; Humans ; Infant ; Myeloproliferative Disorders ; Pallor ; Primary Myelofibrosis* ; Reticulin ; Splenomegaly

PURPOSE: The need for continuing Growth Hormone(GH) replacement after adolescence in patients with childhood-onset GH deficiency has been recognized. The purpose of this study was to evaluate the abnormalities of lipid profiles in young adults with childhood-onset hypopituitarism who discontinued GH therapy after the completion of height growth. METHODS: Nine male patients(mean age:22.4+/-3.3 years) with childhood-onset hypopituiatarism in whom GH treatment had been discontinued after final height was achieved were included. Their body mass index(BMI) and serum levels of total cholesterol, triglyceride(TG), high-density lipoprotein(HDL) cholesterol, and low-density lipoprotein(LDL) cholesterol were measured. The relationships of duration after GH discontinuation, age, and BMI to lipid profiles were anaylzed. RESULTS: BMI increased significantly from 21.8+/-1.9 kg/m2 before GH discontinuation to 23.0+/-3.0 kg/m2 after GH discontinuation(P<0.05). Serum levels of total cholesterol, TG, HDL cholesterol, and LDL cholesterol were 217.3+/-33.4, 237.8+/-128.2, 42.1+/-7.1, and 127.4+/-27.2 mg/dL, respectively, 3.1+/-2.0 years after GH discontinuation. Percentage of patients who had total cholesterol > or = 200 mg/dL, TG > or = 150 mg/ dL, LDL cholesterol > or = 140 mg/dL, and HDL cholesterol < or = 40 mg/dL were 77.8%, 88.9%, 44.4%, and 33.3%, respectively. All subjects had some abnormalities of lipid profiles. A significant positive correlation was found between duration after GH discontinuation and serum levels of total cholesterol and TG(r=0.84, P<0.01; r=0.83, P<0.01). A significant positive correlation was also found between age and serum levels of total cholesterol and TG(r=0.86, P<0.01; r=0.81, P<0.01). There were no correlations between BMI and serum lipid levels. CONCLUSION: Most of young adult patients with childhood-onset hypopituitarism had abnormal lipid profiles by 1-5 years after discontinuation of GH treatment. These data suggest that continuous GH treatment after completion of height growth is necessary.
Adolescent ; Adult* ; Cholesterol ; Cholesterol, HDL ; Cholesterol, LDL ; Growth Hormone* ; Humans ; Hypopituitarism* ; Male ; Young Adult

Purpose : The main genetic contribution to type 1 diabetes susceptibility is the human leukocyte antigen (HLA) class II gene. Several non-HLA chromosomal regions are also known to be involved. We studied the association of HLA class II and non-HLA candidate genes, which are cytotoxic T lymphocyte antigen-4 (CTLA4), tumor necrosis factor (TNF), lymphotoxin-alpha(LT-alpha, and vitamin D receptor (VDR) gene, polymorphisms with disease susceptibility in Korean children with type 1 diabetes.Methods : Fifty Korean children with type 1 diabetes (29 girls and 21 boys) and 166 healthy Koreans were investigated in this study. HLA class II alleles were determined by PCR-SSP (sequence-specific primer) and PCR-SSOP (sequence specific oliogonucleotide probe) method. CTLA4 exon 1 polymor phism was analyzed by PCR-SSCP (single strand conformation polymorphism), and TNF promotor and LT-alphagene polymorphism by PCR-RFLP (restriction fragment length polymorphism), respectively. VDR gene polymorphisms were analyzed by PCR-RFLP using restriction enzyme FokI, ApaI, TaqI, and BsmI. Results : The frequencies of HLA-DRB1*04, DRB1*09, and DQB1*04 were significantly increased and those of HLA-DRB1*14, DRB1*15, DQB1*05 and DQB1*06 were significantly decreased in the patients with type 1 diabetes compared with the control subjects. No significant differences in the distribution of CTLA4 exon 1, TNF promotor, LT-alpha and VDR gene polymorphisms were observed between the patients with type 1 diabetes and the control subjects. Conclusion : These data suggest that HLA-DRB1*04, DRB1*09, and DQB1*04 are susceptible genes for type 1 diabetes, whereas HLA-DRB1*14, DRB1*15, DQB1*05, and DQB1*06 are protective genes in Korean children. CTLA4 exon 1, TNF promotor, LT-alpha and VDR gene polymorphisms are not associated with susceptibility to type 1 diabetes in Korean children.
Alleles ; Child* ; Diabetes Mellitus, Type 1* ; Disease Susceptibility* ; Exons ; Female ; Genes, MHC Class II ; Humans ; Leukocytes ; Lymphocytes ; Receptors, Calcitriol ; Tumor Necrosis Factor-alpha

Although rare, agranulocytosis is the most serious, potentially fatal side effect of antithyroid drug. We experienced a 13-year-old girl who developed methimazole-induced agranulocytosis at 1 month after the initiation of treatment. Her granulocyte count recovered after discontinuation of methimazole and treatment with broad spectrum-antibiotics, G-CSF, and methylprednisolone. After recovery from agranulocytosis she was treated with radioiodine ablation therapy. Early detection and proper management of antithyroid drug-induced agranulocytosis is very important.
Adolescent ; Agranulocytosis* ; Female ; Granulocyte Colony-Stimulating Factor* ; Granulocytes* ; Humans ; Methimazole ; Methylprednisolone*

Photodynamic therapy(PDT) is a treatment modality by highly reactive oxygen intermediates generated through the interaction of light with a photosensiziter. It has been shown to be an effective treatment for various cutaneous and noncutaneous malignancies. It is efficient for the curative and palliative treatment of epithelial skin tumor in situ or early invasive lesions. In effect, it is a useful alternative treatment for the lesions located on anatomically difficult areas or the large-sized lesions. We treated a case of Bowen's disease arising on the plantar area and 3rd and 4th toewebs of left forefoot in a 61-year-old man with PDT using the hematoporphyrin derivative, porfirmer sodium(Photofrin, Russia) as a photosensitizer and gold vapor laser as a visible light source. The outcome showed partial clinical improvement after about 2 months' follow-up.
Bowen's Disease* ; Follow-Up Studies ; Hematoporphyrin Derivative ; Humans ; Lasers, Gas ; Light ; Middle Aged ; Oxygen ; Palliative Care ; Photochemotherapy* ; Skin

An association study with Korean alcoholic patients(n=50) and normal controls(n=53) was performed to find the relationship between catechol-O-methyltransferase(COMT) gene polymorphism and alcoholism using polymerase chain reaction-restriction fragment length polymorphism. When we compared the allele and genotype frequencies of Nla III COMT gene polymorphism in alcoholism and normal controls, there was no significant difference between two groups. Our results do not support an association between the Nla III polymorphism of COMT gene and alcoholism.
Alcoholics ; Alcoholism* ; Alleles ; Genotype ; Humans