Sine the success of human growth hormone (GH) synthesis by DNA recombinant technology, these GH products are widely used in the treatment of children with growth hormone deficiency. Recently, methionyl-GH has been produced in the yeast, Saccaromyces cerevisiae 2150, by the use of a DNA recombinant method in Korea. The purpose of this study was to investigate the clinical efficacy, side effect and immunogenicity of this GH product during therapy of 3year in 22 children with naive GH deficiency. The subjects of this study are aged 4.5~17.9 years, diagnosed by the failure of plasma GH to respond to insulin induced hypoglycemia, arginine and/or clonidine loading and height below -2 standard deviation of mean for their chronological age. Each subjcct received GH 0.45IU/kg/week, intramusculary in 3 devided dose, During treatment, vital signs, height and body weight checked before and every 3 months. Blood count urinalysis, blood chemistry, bone age and measurement of thyroid hormone were performed before, every 3months in year 1, and every 6 months in year 2 and 3. Assay of antibody against GH were performed before, year 1,2 and 3. The height velocity was significantly increased from an average baseline level of 2.9+/-1.1cm/year to 7.9+/-1.9cm/year after the first year, 6.6+/-1.1cm/year during the second year, and 5.9+/-1.2cm/year during the third year of GH treatment. The height standard deviation score for chronological age was decreased from an average baseline of 3.5+/-1.3 to 2.9 1.2 after the first year, 2.7 +/-1.1 during the second year, and 2.5+/-1.2 during the year of GH treatment. The increment in height age was significantly increased from an average baseline of 0.6+/-0.2 year to 1.3+/-0.3 year in year 1, 1.1+/-0.3 year in year 2, and 1.0+/-0.2 year in year 3. The increment in bone age was significantly increased from an average baseline of 0.6+/-0.2 year to 1.2+/-0.2 in year 1, 1.3+/-0.3 year in year , 2, and 1.1+/-0.3 year in year 3. Antibody against hGH was observed in 3 of the 22 patients(13.5%) in year 1 and 1 and in 2 of the 17 patients(17.7%) in year 3. And unwanted side effects were not observed in any of the 22 patients. These results suggest that this yeast derived recombinant methionyl growth hormone appears to be a safe very effective product for treating of children with GH deficiency.
Arginine ; Body Weight ; Chemistry ; Child* ; Clonidine ; DNA ; Growth Hormone* ; Human Growth Hormone ; Humans ; Hypoglycemia ; Insulin ; Korea ; Plasma ; Thyroid Gland ; Urinalysis ; Vital Signs ; Yeasts*

A Histologic finding of the Cutis marmorata telangiectatica congenita( CMTC) is non-specific, but dilated capillaries and increased number of vessels are often observed. Capillary hemangioma, mostly represented by strawberry nevus, may show various clinical manifestations. We report a case of Cutis marmorata telangiectatica congenita, which may be an unusual clinical presentation of capillary hemangioma.
Capillaries* ; Fragaria ; Hemangioma, Capillary* ; Nevus

The injury of the epiphysis or epiphyseal plate produces undesirable effects on the normal growth of the bone, such as bone bridge, growth arrest and angular deformity. Authors performed vascularized fibular epiphysis and epiphyseal plate transplantation in 7 years old girl, who received the excision of the exostosis on distal ulna, followed by progressive varus deformity of right forearm and growth arrest of distal ulna. With follow
Congenital Abnormalities ; Epiphyses ; Exostoses ; Female ; Forearm ; Growth Plate ; Humans ; Methods ; Transplantation ; Ulna

Hereditary anhidrotic ectodermal dysplasia is a rare condition characterized by underdeveloped ectodermal structure including the skin, teeth or skin appendages. The patient has characteristic feature of anhidrosis, hypotrichosis and defective dentition. We experienced a case of hereditary anhidrotic ectodermal dysplasia in a l-month-old male infant who had unexplained recurring fever, anhidrosis and characteristic facial feature, so we established the diagnosis with clinical feature and skin biopsy.
Biopsy ; Dentition ; Diagnosis ; Ectoderm ; Ectodermal Dysplasia* ; Fever ; Humans ; Hypohidrosis ; Hypotrichosis ; Infant ; Male ; Skin ; Tooth

No abstract available.
Pseudohypoaldosteronism*

Apert syndrome is an uncommon, congenital disorder characterised by malformation of the skull, most often acrocephaly or oxycephaly, in association with symmetrical syndactyly of both hands and feet. It is due to disturbance in the growth of bone and soft tissue affecting principally the head, the hands and the feet. The original description was presented by Troquart in 1886, and acrocephaloyndactyly was named by Apert in 1906. Since then, more than 200 cases have been reported in the world upto 1970. Recently, we have experienced three for typical Apert syndrome and made a brief related literature review
Acrocephalosyndactylia* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Craniosynostoses ; Foot ; Hand ; Head ; Skull ; Syndactyly

No abstract available.
Xanthomatosis*

Aneurysm of the vein of Galen is a rare midline arteriovenous malformation, usually presenting with cardiac failure in infancy or with hydrocephalus and raised intracranial pressure in older children. We experienced a case of the vein of Galen aneurysm diagnosed with computed tomographic (CT) features and magnetic resonance image (MRI), a new imaging modality. Our case was a 3 day-old male neonate and had a nonspesific symptom of high fever without cardiac failure. A brief review of related literature was made.
Aneurysm* ; Arteriovenous Malformations ; Cerebral Veins* ; Child ; Fever ; Heart Failure ; Humans ; Hydrocephalus ; Infant, Newborn ; Intracranial Pressure ; Male ; Veins*

A giant hydronephrosis caused by ureteropelvic junction stricture in a 16-month-old male infant was presented. After the size and volume of giant hydronephrosis were estimated by retrograde pyelography, nephrectomy was performed. We report this case with review of literatures.
Constriction, Pathologic ; Humans ; Hydronephrosis* ; Infant ; Male ; Nephrectomy ; Urography

Renal agenesis is a relatively rare congenital anomaly. The frequent difficulty in establishing a definite diagnosis of renal agenesis is emphasized. Recently we experienced 2 cases of renal agenesis in 24-year-old male patients, so we report these 2 cases of renal agenesis with review of literatures.
Diagnosis ; Humans ; Male ; Young Adult