The McCune-Albright Syndrome is characterized by polyostotic fibrous dysplasia, cafe-au-lait colored patches of the skin and endocrinological abnormalities, including precocious puberty. Affected patients progress from GnRH-independent puberty to GnRH-dependent puberty. GnRH analogues are ineffective in GnRH-independent precocious puberty. Three year and 2 month old girl with breast development(SMR B3) and irregular vaginal bleeding were seen & diagnosed as incomplete sexual precocity. Decapeptyl treatment was started for the purpose of regression of breast development & vaginal bleeding with no effect. After 10 months, cafe-au-lait skin lesion & polyostotic fibrous dysplasia were noted and diagnosed as McCune-Albright syndrome. Breast development regressed to SMR B2 and vaginal bleeding was controlled with ketoconazole. As our experience, ketoconazole treatment might be effective to delay the progression of sexual development in patients with precocious puberty in McCune-Albright Syndrome.
Adolescent ; Breast ; Female ; Fibrous Dysplasia, Polyostotic* ; Gonadotropin-Releasing Hormone ; Humans ; Infant ; Ketoconazole* ; Puberty ; Puberty, Precocious ; Sexual Development ; Skin ; Triptorelin Pamoate ; Uterine Hemorrhage

PURPOSE: Prader-Willi Syndrome(PWS) is caused by absence of paternal contributions of the chromosome region 15q11-q13. To detact this region, high resolutional cytogenetic analysis, FISH with probe at PWS critical region or microsatellite polymorphism can be used. The gene for the small nuclear ribonucleoprotein polypeptide N(SNRPN) is not expressed in patients with PWS. We conducted molecular analysis with RT-PCR with SNRPN primers to find out more useful diagnostic tool in PWS. METHODS: Four patients with obesity and other characteristics of PWS were studied. The exprssion of SNRPN and control gene were studed by RT-PCR from peripheral lymphocytes. RESULTS :The SNRPN expression in reverse transcribed RNA from blood were easily detected in normal control but not in patients with suspected Parder-Willi Syndrome. CONCLUSION: We conclude that SNRPN expression study is a useful diagnostic method for detection of Prader-Willi Syndrome.
Cytogenetic Analysis ; Humans ; Lymphocytes ; Microsatellite Repeats ; Obesity ; Pathology, Molecular* ; Prader-Willi Syndrome* ; Ribonucleoproteins, Small Nuclear ; RNA ; snRNP Core Proteins*

Menkes disease is an X-linked recessively inherited neurodegenerative disorder of copper metabolism leading to death in early childhood. This disease is characterized by low serum, liver and brain Cu levels, whereas the Cu content in nearly all other organs is increased. The main clinical features are irregular kinky hair, characteristic face, progresssive degeneration of the central nervous system, bone changes, arterial rupture and thrombosis, and instability of temperature. We have experienced a case of Menkes disease in a eight months old male patient, who manifested by seizure, developmental delay, hypotonia, characteristic hair and face along with low levels of serum copper and ceruloplasmin. We report the characteristic findings of cranial MRI and MR angiography in this Menke's patient. In cranial MRI, he showed progressive brain atrophy with subdural hemorrhage and effusion. MR angiography revealed tortuosity of vessels clearly obviating necessity of more invasive conventional arteriography in diagnosis of this disease. This study suggested that cranial MRI and especially MR angiography might be helpful in making early diagnosis of this disease.
Angiography ; Atrophy ; Brain ; Central Nervous System ; Ceruloplasmin ; Copper ; Diagnosis ; Early Diagnosis ; Hair ; Hematoma, Subdural ; Humans ; Liver ; Magnetic Resonance Imaging ; Male ; Menkes Kinky Hair Syndrome ; Metabolism ; Muscle Hypotonia ; Neurodegenerative Diseases ; Rupture ; Seizures ; Thrombosis

PURPOSE: According to the statistics announced by the Ministry of Unification, the number of North Korean refugees living in South Korea has increased by 200 on average monthly in 2010. The number of refugees increased only by 300 annually until 2000. The total number of refugees as of February 2012 was 20,956. This study aims to investigate the psychobiology of the North Korean refugees who consulted psychiatric clinics among those living daily life in South Korea. METHODS: The subjects of this study were 85 North Korean refugees that consulted psychiatric clinics from January 1, 2005 to July 2011. This study obtained demographic and psychiatric information in a retrospective approach. RESULTS: Among the 85 North Korean refugees, 75 (88.2%) were females and their average age was 48 years of age. A total of 16 (18.8%) were admitted to a clinic and among the inpatients, 4 were admitted twice and two were admitted three times. As for the claimed symptoms of outpatients, insomnia was shown in 47 (55.3%) patients, headaches in 37 (43.5%), anxiety in 20 (23.5%), depression in 19 (22.4%), etc. The major symptoms represented by inpatients were insomnia in 14 (87.5%) patients, depression in 12 (75%), and headaches in 8 (50%), etc. CONCLUSION: The most frequent psychiatric symptoms of North Korean refugees living in South Korea were insomnia and headaches. It suggests that when performing psychiatric diagnosis and treatment of North Korean refugees, we have to take into consideration the fact that they claimed the physical symptoms more than the emotional ones. Also, from the aspect that most symptoms of North Korean refugees were insomnia, more profound research on sleep is required in the future.
Anxiety ; Depression ; Female ; Headache ; Humans ; Inpatients ; Mental Disorders ; Outpatients ; Refugees ; Republic of Korea ; Retrospective Studies ; Sleep Initiation and Maintenance Disorders

PURPOSE:Growth hormone(GH) therapy is very effective for the treatment of short stature, but it is unconvenient that GH should be injected daily because of short half-life. Sustained-release forms of GH preparation is needed for better compliance. This study aimed to measure peak pattern and duration of release of hGH from solid microparticles using sodium hyaluronate. METHODS:In group 1, hGH(EutropinTM) 285microg/kg was injected subcutaneously to 2 Jindo dogs everyday for 7 days. In group 2, hGH solution(EutropinTM) was continuously infused subcutaneously for 12 hours a day for the first 2 days via mini pump(minimed co.) and then for 24 hours a day thereafter until 7th day with the rate of 11.9microg/kg/hr. In group 3, dose of 2mg/kg hGH in sustained-release formulation using sodium hyaluronate, was injected subcutaneously to 3 Jindo dogs. In group 4, two dose levels of 1mg/kg and 2mg/kg hGH in sustained-release formulation using sodium hyaluronate, were injected subcutaneously to each group of 4 Beagle dogs. To evaluate side reactions from continuous injection of sodium hyaluronate, sustained release form of hGH 2mg/kg was injected to 4 Beagle dogs once a week for 4 weeks and compared to 4 control Beagle dogs. Blood samples were withdrawn half- hourly for 6 hour and 2-4 times a day thereafter in Jindo dogs and at 6hr, 12hr, 22hr in the first day and twice a day(at 9:00, 16:00 O'clock) for the following 6 days. RESULTS:In group 1, peak GH conc. of 122+/-27ng/ml was observed at 1 hour after hGH(EutropinTM) 285microg/kg injection and 1/2 of peak GH conc. at 4 hour. and decreased to 2ng/ml at 24 hour. GH AUC(Area under curve) was 670(ng/ml.hr). In group 2, initial steady state GH conc. of 25ng/ml occurred after 6 hour, however, GH conc. decreased gradually to 16ng/ml at the 7th day. GH AUC based on th initial steady state GH conc. was 600(ng/ml.hr). In group 3(Jindo dogs), GH conc. was peaked at 12 hour and 1/2 of peak GH conc at 30-46 hour and decreased to baseline at 70 hour. GH AUC was 2173(ng/ml.hr). In group 4(Beagle dog), peak GH concentrations of 56+/-7ng/ml and 108+/-12ng/ml were observed at 12 hour for the doses of 1mg/ kg and 2mg/kg, respectively and 1/2 of peak GH conc at 48 hour and decreased to baseline at 80 hour. GH AUC was 3560(ng/ml.h) for 2mg/kg treated dogs. Serum IGF-1 was increased to peak levels of 520ng/ml, and 580ng/ml for the doses of 1mg/kg 2mg/kg, respectively, and persisted above the baseline till 120 hour. There was no specific side reaction during experimental period. CONCLUSION: Sustained-release form of hGH with sodium hyaluronate released GH for 70-80 hour with the peak level lower than that resulted from the conventional aqueous formulation of the equivalent dose, and higher concentration IGF-I maintained for 120 hour after injection above baseline. More extensive study is needed to permit for new therapeutic application.
Animals* ; Area Under Curve ; Compliance ; Dogs ; Growth Hormone* ; Half-Life ; Hyaluronic Acid ; Insulin-Like Growth Factor I ; Polymers

PURPOSE: Children with idiopathic short stature(ISS) are classified on the basis of exclusion criteria. Short stature with normal or increased circulating growth hormone(GH) and low IGF-I levels indicates that partial growth hormone insensitivity(GHI) may play a role in ISS. The present study was performed to investigate whether partial GHI is observed in children with idiopathic short stature and whether partial GHI is related to growth hormone receptor(GHR) defect. METHODS: Twenty-five children with ISS were studied and 30 normal children were enrolled as control. Anthropometric measurement and IGF-I generation test were performed. The GHR gene was amplified by PCR, from leukocyte-derived DNA and sequenced directly. RESULTS: IGF-I level was increased after GH treatment, but there was no significant correlation between delta IGF-I and delta HTSDS, as well as between delta IGFBP-3 and delta HTSDS indicating partial GHI in children with ISS. When GHR genes were analyzed, polymorphism was observed. That is, adenine which is third base for 168 th amino acid was guanine. Furthermore this finding was observed in 100% of 55 children examined, which was a rather higher incidence compared to previous reports from other country. The first base of 526 th amino acid was either adenine or cytosine or heterozygous of adenine and cytosine, suggesting an occurrence of I526L variant. Deletions of one or two bases in flanking region of exon 3 and 8 were confirmed in Koreans, the same as it occurs in Japanese. There are differences in the sequences of human GHR gene among different ethnic populations. Wide variations of phenotype in ISS cannot clearly be explained by GHR gene alone. Variations or polymorphism of GHR genes remains to be functionally analysed. CONCLUSION: ISS might be due to the partial GHI which is resuls from mutation of GHR genes.
Adenine ; Asian Continental Ancestry Group ; Child* ; Cytosine ; DNA ; Exons ; Growth Hormone* ; Guanine ; Humans ; Incidence ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor I ; Phenotype ; Polymerase Chain Reaction ; Receptors, Somatotropin*

PURPOSE: A number of studies have been published on the effect of growth hormone therapy over 1-3 years in children with growth hormone deficiency(GHD) & Familial short stature(FSS). So far final height data are seldomly available. Final heights of GH treated children with GHD & FSS were evaluated. METHODS: 10 Children with GHD and 69 children with with FSS were enrolled for the study. They were treated with GH 0.1IU/kg/daily in 10 GHD and 20 children with FSS. They were grown up and reached adult height. 49 children with FSS were not treated at all. Facors influencing final height were investigated. RESULTS: 1) All patients with GHD(Idiopathic 8 cases, Organic 2 cases) had additional gonadotropin deficiency and had multiple pituitary hormone deficiency. 2) At start of GH treatment boys of idiopathic GHD were 9.8 years old and 12.4 years old in girls and their mean height was 114.8cm(-2.8SDS), 123.0cm(-2.9 SDS)in boys and girls respectively. Boy with orgnaic GHD was 11.1 years and 6.7 years old in girl. Their height were 126.0cm(-1.5SDS) and 104cm(-1.2SDS) respectively. 3) Mean final height of idiopathic GHD was 167.6cm(-0.5SDS) in male and 161.0 cm(0.7SDS) and that of organic GHD was 173.0cm(0.5SDS) in male and 157cm (0SDS) in girl. 4) Mean Final height in untreated children with FSS was 159.8+/-.2cm(-1.6 SDS)in male and 149.6+/-.3cm(-1.4SDS) in female. Mean final height of GH treated in FSS was 162.5+/-.1cm(-1.5SDS) in male and 152.0+/-.4cm(-1.2SDS) in female But there was no statiscally difference between untreated and treated children in final height. 5) The age of onset of menarche was 12.74+/-.78 years old in GH treated group (n=12) and 12.45+/-.16 years old in untreated group(n=34). CONCLUSION: The GH administration in patients with GHD has been confirmed for growth promotion. but in case of FSS there was no significant difference between treated and untreated group. More further studies are needed for the confirmation of the efficacy of GH therapy in patients with FSS.
Adult ; Age of Onset ; Child* ; Female ; Gonadotropins ; Growth Hormone* ; Humans ; Male ; Menarche

PURPOSE: It is well known that the linear growth velocity in children with insulin-dependent diabetes mellitus (type 1 DM) is closely related to metabolic control and onset age of the disease. Many studies have demonstrated growth impairment in children with type 1 DM, regardless of the degree of metabolic control, whereas other studies have found no growth retardation. Therefore, we examined the growth status and the level of growth factors in children with type 1 DM, and compared them with healthy children. METHODS: Thirty-six patients with type 1 DM (21 female, 15 male; mean age, 10.8 years : range, 5-15 years)were studied. The mean duration of type 1 DM in these patients was 2.7 years (range, 0.1-7.0 years). Their growth status in height standard deviation score (HTSDS) and levels of insulin-like growth factor (IGF)-I, free IGF-I, IGF-II and IGF-binding protein (IGFBP)-3 were compared with age and sex matched normal children (21 female, 15 male; mean age, 10.3 years; range, 5-15 years). RESULTS: As HTSDS in type 1 DM, children were 0.4 +/- 1.1, no prominent growth impairment was observed in type 1 DM children. IGF-I and IGF-II levels decreased significantly in type 1 DM, but no significant differences in free IGF-I and IGFBP-3 levels compared to normal. Height in type 1 DM children was in direct correlation with free IGF-I (r=0.35, P<0.05) and IGFBP-3 (r= 0.45, P<0.01), respectively. CONCLUSION: This study reveals that the levels of IGF-I and -II are decreased in children with type 1 DM, whereas free IGF-I levels are not. These findings may be related to the decreased IGFBP-3 levels in diabetic children, and may explain no growth impairment, except in cases of extremely poor metabolic control.
Age of Onset ; Child* ; Diabetes Mellitus, Type 1* ; Female ; Humans ; Insulin-Like Growth Factor Binding Protein 1 ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor I ; Insulin-Like Growth Factor II ; Intercellular Signaling Peptides and Proteins* ; Male

PURPOSE: It is well known that the linear growth velocity in children with insulin-dependent diabetes mellitus (type 1 DM) is closely related to metabolic control and onset age of the disease. Many studies have demonstrated growth impairment in children with type 1 DM, regardless of the degree of metabolic control, whereas other studies have found no growth retardation. Therefore, we examined the growth status and the level of growth factors in children with type 1 DM, and compared them with healthy children. METHODS: Thirty-six patients with type 1 DM (21 female, 15 male; mean age, 10.8 years : range, 5-15 years)were studied. The mean duration of type 1 DM in these patients was 2.7 years (range, 0.1-7.0 years). Their growth status in height standard deviation score (HTSDS) and levels of insulin-like growth factor (IGF)-I, free IGF-I, IGF-II and IGF-binding protein (IGFBP)-3 were compared with age and sex matched normal children (21 female, 15 male; mean age, 10.3 years; range, 5-15 years). RESULTS: As HTSDS in type 1 DM, children were 0.4 +/- 1.1, no prominent growth impairment was observed in type 1 DM children. IGF-I and IGF-II levels decreased significantly in type 1 DM, but no significant differences in free IGF-I and IGFBP-3 levels compared to normal. Height in type 1 DM children was in direct correlation with free IGF-I (r=0.35, P<0.05) and IGFBP-3 (r= 0.45, P<0.01), respectively. CONCLUSION: This study reveals that the levels of IGF-I and -II are decreased in children with type 1 DM, whereas free IGF-I levels are not. These findings may be related to the decreased IGFBP-3 levels in diabetic children, and may explain no growth impairment, except in cases of extremely poor metabolic control.
Age of Onset ; Child* ; Diabetes Mellitus, Type 1* ; Female ; Humans ; Insulin-Like Growth Factor Binding Protein 1 ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor I ; Insulin-Like Growth Factor II ; Intercellular Signaling Peptides and Proteins* ; Male

Prader-Willi syndrome is caused by absence of paternal contribution of chromosome region 15q11-q13. PWS is clinically suspected and can be confirmed by laboratory tests. It is accepted that DNA methylation analysis is very useful screening test and FISH with specific probe can be used for deletion detection for PWS. In clinically suspected PWS patients, we conducted two genetic tests, FISH with SNRPN probe and SNRPN expression study with RT-PCR. We found discordance in one patient. This PWS male presented with severe obesity, hypogonadism and typical appearance with the history of neonatal hypotonia and feeding problems. The FISH showed the microdeletion in 15q11-q13 as expected, but the result of SNRPN expression was positive. We reviewed FISH and observed normal cells without deletion. Methylation analysis is not sensitive enough to identify cases of mosaic PWS. So, when the molecular screening is negative, precise clinical examination is essential and other cytogenetic analysis like FISH should be combined.
Cytogenetic Analysis ; DNA Methylation ; Humans ; Hypogonadism ; In Situ Hybridization, Fluorescence* ; Male ; Mass Screening ; Methylation ; Mosaicism* ; Muscle Hypotonia ; Obesity, Morbid ; Prader-Willi Syndrome ; snRNP Core Proteins