Pena-Shokeir I Syndrome in a Newbonrn Infant

Pena-Shokeir I syndrome is a multiple malformation syndrome displaying characteristics of camptodactyly, multiple ankylosis, severe muscle weakness, facial anomalies (low set ears, hypertelorism, depressed tip of nose), polyhydramnios, fetal growth retardation & pulmonary hypoplasia which are inherited by autosomal recessive trait. We experienced 1 case of Pena-Shokeir I syndrome in a neonate (41 weeks, 2.08Kg). This patient suffered from dyspnea. Respiratory destress was not relieved after ventilatory care. He died aged 10 days. We report this case with brief review of literature.

A Case of Mauriac's syndrome

Mauriac's syndrome was described in the 1920s, as a triad of poorly controlled insulin dependent diabetes mellitus, profound growth retardation, and hepatomgaly. Following the wide availability of insulin and intensification of diabetic control, this entity has become quite rare. A 9-year-old female child was transferred to pediatric OPD of SNUCH because of hyperglycemia, short stature, and visual disturbance. Five years prior to admission, she was diagnosed as diabetes mellitus at hospital due to polyuria, enuresis and polydipsia. However, she had been managed with irregular insulin injection and 1u of NPH once a day because of poor economic state and poor diabetic education. Two years ago, her mother noticed she had grown little and she had complainted poor vision. Since 1 year prior to admission, abdominal pain, vomiting, and diarrhea were developed twice, but subsided spontaneously without specific medication. On physical examination at admission, her height was 102 cm(< 3 percentile) and her weight was 16 kg(3-10 percentile). She was short and obese. The liver was 3FB palpable below the right subcostal margin. Limitation of motion of MP and PIP joints of left middle finger and right fourth finger were observed. On ophthalmologic examination, the cataracts were observed on both eyes and diabetic retinopathy was absent. Diabetic nephropathy was confirmed by kidney biopsy due to proteinuria. The bone age was delayed as 6-year. She was consistent with Mauriac's syndrome. During admission, she and her mother recieved diabetic education, and she was managed by strict diabetic control with human insulin. 4 months after, at discharge, her growth accelerations of height and weight were observed. Limited joint mobility and cataract were improved. Proteinuria disappeared after persantin and captopril medications.

Herditary Anhidrotic Ectodermal Dysplasia in Twins

Hereditary anhidrotic ectodermal Dysplasia is a congenital disease displaying characteristics of anhidrosis, hypotrichosis and dental defect which are caused by developmental anomaly of ectodermal epidermis and its appendages. We experienced two cases of hereditary anhidrotic ectodermal dysplasia in two-year and four-month old twin brothers. These patients suffered from intermittent high fever early in life which brought them to our clinical attention. However the diagnosis of anhidrotic ectodermal dysplasia was not suspected by means physicians who cared the patients previously. The diagnosis was made on the basis of clinical features, and confirmed by starch iodine sweat test and skin biopsy on the palm and axilla. We report the two cases in a twin brothers with brief review of related literatures.

Acanthosis Nigricans and Type II Diabetes in Childhood

The authors report two cases of type II diabetes with and without a acanthosis nigricans in children and a case of obese child with acanthosis nigricans encountered at Seoul Eul Ji Hospital in 1994 with review of literatures on relationship of obesity, acanthosis nigricans and type II diabetes. In case 1, 14-year old girl, BMI was 24 (weight, 63.5Kg ; height, 163.0cm). Fasting blood glucose was 253mg/d1 Glycosylated hemoglobin was 11.6% and fasting C-peptide was 3.49ng/m1 and two-hour post-prandial C-peptide was 5.98ng/m1. In case 2, 12-year old boy, BMI was 22 (weight, 62Kg ; height, 167.0cm). The bone age was 15 yrs. He had prominent lesions of acanthosis nigricans in the axillae, elbows, back of neck and umbilicus. Fasting blood glucose was 243mg/d1 and a two-hour post-prandial glucose was 347mg/d1. Glycosylated hemoglobin was 11.2%. Fasting C-peptide was 1.88ng/m1 and a two-hour post-prandial C-peptide was 3.51ng/d1. In case 3, 10-year-old girl, BMI was 25 (weight, 55Kg ; height, 149.0cm). The bone age was 13 years. In the axillae and posterior neck, there were typical hyperpigmented areas of acanthosis nigricans. Random blood glucose was 111.0mg/d1 and glucosuria was absent. In cases 1 and 2, though the doses of insulin were gradually increased in an attempt to lower blood glucose levels, it had no effect on the blood sugar level. however, during the administration of oral hypoglycemic agent, together with encouragement of exercise and restriction of calorie intake, the blood glucose levels were normalized. In case 3, because of her obesity and acanthosis nigricans, she should be placed on appropriate calorie intake and exercise and close observation for onset of diabetes. we experienced two cases of acanthosis nigricans, one case with obesity, another case with obesity and type II DM. So, we report it with a review of literature.

Cushing Syndrome in Children and Adolescents

No abstract available.

Clinical Effects of E. coli Derived Recombinant Human Growth Hormone (DA / 대한내분비학회지

Recently, methionyl-hGH was produced in the E. coil K-12, W3110 by recombinant DNA technology in Korea. In this paper, the clinical efficacy and immunogenicity of this GH were studied in 43 patients with growth hormone deficency.The subjects of this study were aged 4.3-18.5 years and each patient received GH 0.5-0.71U/kg week subcutaneously, 6-7 times a week for 1 year. During treatment, height, body weight and bone age were checked. Blood count, urinalysis, blood chemistry and thyroid hormonal concentrations were checked before and every 3 months. The measurement of IGF-1 was performed and assay of antibody against hGH was performed before and every 6 months.The height velocities significantly increased from 3.7+-3.0 cm/year to 11.0+-4.2 cm/year and 9.9+-3.2 cm/year at 6 and 12 months after GH therapy, respectively. The Height SDS were significantly improved after GH therapy with increasing ratio of bone age to chronological age from 0.60+-0.19 at pretreatment to 0.68+-0.16 at 6 month, 0.69+-0.16 at 12 month of therapy. The plasma IGF-1 levels significantly increased during treatment. Three out of 35 patients(8.3%) showed antibody against hGH after 1 year of treatment. Thoughout study, we could not observe any remarkable side effect with GH treatment.These results indicate that this E. coli derived methionyl recombinant growth hormone is effective in improving the index of linear growth in the children with growth hormone deficiency without significant side effect.

Two Cases of Tetrahydrobiopterin Deficiency

Tetrahydrobiopterin(BH4) deficiency is a rare type of hyperphenylalaninemia and usually leads to a progressive neurologic deterioration despite early dietary control of blood phenylalanine concentration. We experienced two cases of BH4 deficiency in brother and sister, confirmed by biochemical study of blood and urine. They had suffered from a progressive neurologic illness such as mental retardation, severe hypotonia, seizure, and athetotic movements started at 3 months of their age. Blood amino-acid analysis showed mild hyperphenylalaninemia with elevated urinary neopterin, and reduced urinary biopterin. Their neurologic deteriorations were dramatically improved after replacement of BH4 and dopamine agonist.

The Effect of Long-Acting Gonadotropin-Releasing Hormone(GnRH) Analog on the Growth Velocity and Final Adult Height in the Children with True Precocious Puberty

The final adult height in the children with true precocious puberty are destined to be short due to excessive bone maturation, compared to the growth velocity, regardless of its etiologies. To improve this final shortness, long-acting GnRH analog have been tried to the children with true precocious puberty. We evaluated the parameters of the growth. including the growth velocity, height SDS, predicted final adult height obtained by Bayley-Pinneau method in the 12 children with true precocious puberty after treatment of long-acting GnRH analog, Decapeptyl, The results were as belows; 1) The mean age of pubertal onset was 5.0 +/-2.9 year of age (1~8.6 years of age). The bone age (10.2+/-3.5 years of age) at diagnosis were significantly higher than the chronological age (7.2 +/-3.0)(Fig. 1,p0.05). 3) The responses of LH and FSH to GnRH administration at 6 months of treatment with Decapeptyl were significantly reduced to prepubertal level, compared to those before the initiation of Decapeptyl treatment. 4) The height SDS before and at the first year of treatment with Decapeptyl were 1.5+/-0.3 and 1.4 +/-0.2, which had no significant change during treatment (Fig, 3, p>0.05). But the height velocity during the first year of treatment (4.9+/-1.7 cm/year) was significantly reduced, compared to the height velocity during the one year before treatment (10.1+/-1.5 cm/year)(Fig, 4, p=0.01). 5) The predicted final adult height, obtained by Bayley-Pinneau method, at second year of treatment (174.4 +/-1.8 cm) were significantly improved, compared to those at initial treatment (151.7 +/-2.3 cm) and 6 months of treatment (156.9+/-2.5 cm)(Fig, 5, p<0.05). 6) The predicted final adult height, obtained at the first year of treatment had significant inverse correlation with the bone age at the initiation of treatment with Decapeptyl (Fig. 6, p<0.05,r=-0.84), but had no corrleation with the chronological age at the initiation of treatment. 7) During this study, we could not find any adverse reaction, which could come with the therapy of Decapeptyl, such as facial flushing and hypotension. With these result, we can conclude that the final adult height can be improved if true precocious puberty could be diagnosed early and treatment with long-acting GnRH analog be given early.

The Correlation between the Age and Predicted Adult Height, Final Adult Height in the Children with Congenital Adrenal Hyperplasia, Especially 21-Hydroxylase Deficiency

We studied the correlation between the bone age and the predicted adult height, final adult height in the 69 children (30 salt losing form and 39 non-salt losing form) diagnosed as 21-hydroxylase deficiency, retrospectively. The results were as belows; 1) The bone age was similar to the chronological age in the children with salt-losing form (5.3+/-2.3 and 6.3+/-3.5 years, respectively), but the bone age was much more advanced, compared to the chronological age in the children with non-salt losing from (7.8+/- 2.9 and 12.0 +/-3.5 years, respectively)(Table 1.p<0.001) 2) In the children with salt-losing form, the height SDS for the chronological age and bone age, were -0.3 +/-1.3 and -1.1+/-2.6, respectively, which has no difference. In the children with non-salt losing form, the height SDS for the bone age, were much lower than the height SDS for the chronological age (-2.1+/-1.3 and 1.5+/-1.5, respectively)(Table 2.p<0.001). 3) The incidence of true precocious puberty is significantly higher in the children with non-salt losing from (26 children) than in the children with salt losing from (6 children)(p<0.05). 4) All children with salt losing form received hydrocortisone and mineralocorticoid within the first month of life, but the average age at the first hydrocortisone therapy in the children with non-salt losing form was 5.0 3.3(0.1~13.1) years of age. The dosages of hydrocortisone were similar in two forms (24.3 +/-7.6 mg/m2 in non-salt losing form). 5) The predicted adult height, obtained by BP method, was shortest among three methods predicting adult height (RWT; 181.5 +/-14.6 cm, TW 169.2 13.2 cm, BP; 151.6 +/-9.3 cm)(Fig.1.p<0.001). 6) Seventeen children with 21-hydroxylase deficiency attained 152.1+/-8.8 cm of final adult height (152.2+/-1.5 cm in 12 salt losing form and 152+/-1.4 cm in 5 non-salt losing form). These final adult heights were closest to the predicted adult height, obtained by BP method, compared to other two methods (Fig. 2.p<0.05). 7) Among 7 children, whose mid-parental height could be obtained, one child could reach within the target height and other 6 children reached far below the target height (Fig. 3.p<0.005). In conclusion, to attain normal growth and normal final adult height, in is suggested that meticulous control should be needed for adequate suppression of adrenal androgen and mineralocorticoid should be given to all children who have high level of plasma renin activity in the children with 21-hydroxylase deficiency, with regular follow-up of laboratory tests and growth parameter. Additionally, even if patient has non-salt losing form, the diagnosis should be made and adequate hormonal therapy should be given as soon as after birth.

Aediatrics and Pediatrician's Commitment

No abstract available.

Pheochromocytoma in Children

We Reviewed 10 hypertensive children with pheochromocytoma retrospectively and the following results were obtained. 1) Out of 10 patients, 7 were male and 3 female. Age ranged from 5.5 years to 13.8 years and their median age was 9.9 years. 2) They complained of sweating, lethargy, headache. or chest pain and so on. Hypertension were noticed in all patients. Heart murmurs were detected in 7 patients and hypertensive retinopathy in 70%. 3) The three cases arised at extraadrenal gland and bilaterality was seen in 3 patients. In the view of diagnosis, abdominal sonography, computerized tomography and urine VMA test revealed the sensitivity of 100%. But MIBG scan showed 60% in sensitivity. 4) Waiting for operation, their hypertension were controlled by adrenergic blockers or calcium channel blockers. They received tumorectomy successfully except one who was in hypertensive state after operation and followed up through OPD. In conclusion high suspicion for the existence of pheochromocytoma from the clinical manifestations should be entertained in any pediatric patients and biochemical and imaging studies were mandatory. Furthermore, for the accurate localization of tumors, several imaging studies should be collaborated.

Fragile site X chromosomes in mentally retarded boys

The fragile X syndrome is a common X-linked mental retardation and autism, affecting females as well as males. The fragile site X chromosomes were studied in a series of 153 mentally retarded boys of unknown etiology to determine the frequency of fragile X syndrome, and to assess the feasibility of making a clinical diagnosis of the fragile X syndrome in young boys before cytogenetic results were known. The 10 boys (6.4%) were positive for fra (X) (q27). The phenotype of fra (X) (q27) positive patients were typical except one who also had sex chromosomal mosaicism. There were three pairs of siblings among the fra (X) (q27) positive patients. Frequency of expression of the fragile site was in 10 to 47 per cent of cells. In addition, 19 boys showed a previously unsuspected chromosomal abnormality. The frequency of the fragile X syndrome in the present study is not significantly different from those in Caucasians and Japanese population. The fragile X syndrome can be recognized by noting key aspects of family history as well as the clinical features in mentally retarded boys.

Re-evaluation of TSH screening test in neonates

Five years ago, we made the cut-off value of Tsh by dry filter paper method as 15 microU/ml to sereening congenital hypothyroidism. Since then, 1,210 term neonates, who had no perinatal problems, were born in SNUCH between Aug. 1987 and Apr. 1992, had been performed this neonatal Tsh screening test with this cut-off point. Neonates had been recalled for measurement of serum T4/TSH to rule out congenital hypoothyroidism if their TSH value by screening tests reveal more than 15 microU/ml. Because there had been high false-positive rate during 5 years, we felt thiscut-off value of TSH should be set higher than 15 microU/ml with same method. Therefore, we analyzedthis TSH values to set a new cut-off point to recall the neonates. The results ars asbelow: 1) TSH value by dry filter paper method was 8.48+/-4.41 U/ml(mean+/-S.D.) 2) Assuming 15 microU/ml as a cut-off point for recall the neonates, the false positive fate is 8.01% 3) Tomake the false positive rates as 0.3%, it is reasonable to set the cut-off point at 22 microU/ml, whichis +/-3S.D.(99.7 percentile) of measured TSH level by dry filter paper method.

Parentage test using HLA and red cell antigen systems / 대한임상병리학회지

No abstract available.

The effect of recombinant human growth hormone(rhGH) on the growth in children with chronic renal failure / 대한내분비학회지

No abstract available.

The variability of growth hormone(GH) response to growth hormone-releasing hormone(GHRH) according to the intrinsic growth hormone secretory rhythm in children with normal growth hormone reserve

The diagnostic value of GHRH in assessing GH secretion in biochemical GH sufficient short children was examined. GHRH (1microgram/kg i.v bolus) was given to three groups (upslope, trough, downslope) arbitrarily classified according to the basal pulsatile GH secretory pattern before GHRH administration. Cmax following GHRH administration were variable and overlapping. Two children in downslope group, three children in trough group, and one child in upslope group showed subnormal GH responses to GHRH administration despite of normal GH response to more than two classical GH provocative tests (Fig.1). The time of maximal GH response after GHRH administration (Tmax) in upslope group was significantly faster than those in other two groups (Fig.2). There was a highly significant correlation between AUC and Cmax (p<0.001) after GHRH administration (Fig.3) which suggests that AUC or Cmax can be used for parameters of GH response to GHRH each other. The AUC and Cmax after GHRH administration between three groups were significantly different (2764+/-579.1ng/ml min, 52.6 ng/ml, respectively in upslope group; 1645+/-383.9ng/ml min, 37.7+/-9.4ng/ml, respectively in downslope group; 1098+/-150.2ng/ml min, 26.3+/-4.5ng/ml, respectively in trough group)(p<0.005) (Fig.4, Table 1). In conclusion, GH responses to GHRH adminstration could be variable according to the basal GH secretory rhythm. Therefore, we should be cautious in interpreting the GH response to GHRH to evaluate the GH secretory capacity because subnormal GH response to GHRH administration could be observed even if normal GH response to classical GH provocative tests. In addition, the classification of these arbitary three groups (upslope, trough, and downslope) is remained to defined so as to promote the diagnostic value of GHRH in GH deficiency.

A case of WDHA(watery diarrhea hypokalemia achlorhydria) syndrome

No abstract available.

Parentage test using HLA and red cell antigen systems / 대한임상병리학회지

No abstract available.

A case of hypomelanosis of Ito accompanying Turner syndrome

No abstract available.

Standard of ear size in Korean children

No abstract available.