SILVER‐RUSSELL SYNDROME AND GROWTH HORMONE DEFICIENCY
SILVER‐RUSSELL SYNDROME AND GROWTH HORMONE DEFICIENCY
复制标题
银罗素综合症和生长激素缺乏症
DOI：
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发表时间：
1982
期刊：
影响因子：
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通讯作者：
T. Usui
中科院分区：
文献类型：
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作者：
Y. Nishi;S. Kawaguchi;Y. Nakanishi;T. Usui
Case report. The patient was a 5-year-old female, the product of an uncomplicated pregnancy and breech delivery at term. Birth weight was 1950 g (-2.9 SD). She had asphyxia at birth. Neonatal jaundice was prolonged. Her milestones were normal, but her height and weight were considerably lower than the third percentile. She had no episodes of hypoglycemia or convulsions. The mother and father were 26 and 29 years of age, respectively, at the time of birth. Mother’s height was 142 cm (-2.4 SD) and father’s 168 cm (+0.4 SD). Two sisters aged 3 and 7 years were 91.5 cm (-0.1 SD) and 118.5 cm (+0.4 SD), tall, respectively. They have no asymmetry or other anomalies. At 5 years of age she was evaluated for short stature. Her height was 86.3 cm (-4.5 SD), weight 9000 g (-3.9 SD), and head circumference 46.5 cm (-2.2 SD). She has not been growing well. She was a pleasant girl with characteristic triangular facies, shark mouth, prominent bridge of nose, and asymmetry of face. Short and incurved fifth fingers were present. Asymmetry of limbs, hands and feet were also present. Her voice was high-pitched. Heart and lungs were normal. Genitalia were normal. No organ enlargement was detected. There were no caf6-au-lait spots. Her intelligence was normal. She had no polyuria or polydipsia. Laboratory studies showed normal urinalysis with overnight specific gravity of 1.026, normal hemogram, normal serum electrolytes, and normal liver and renal function tests. Her fasting growth hormone (GH) level was 3.5 ng/ml with a maximum rise to 4.4 ng/ml at 30 min and cortisol level increased from 5.4 to 13.0 pg/lOO ml at 60 min while blood glucose fell from 81 to 34 mg/IOO ml following one unit of regular insulin. In the L-dopa test and arginine infusion test, the fasting GH values were 1.9 and 3.3 ng/ml, respectively, and increased to only 2.4 and 4.0 ng/ml, respectively. A normal maximum response to all the above stimuli exceeds 10 ng/ml in our laboratory. In the TRH test, fasting TSH increased from the basal value of 2.4 to 16.8 pU/ml at 30 min. The basal T4 value was normal, 8.8 pg/lOO ml, and increased to 10.8 Clg/lOO ml at 120 min. Antithyroid antibodies were negative. The fasting LH level was 3.1 mIU/ml with a maximum rise to 8.8 mIU/ml at 30 min, and the fasting FSH level was 3.2 mIU/ml with a maximum rise to 22.0 mIU/ml at 60 min in the LH-RH tolerance test. Chromosome analysis was normal, 46,XX. Roentgenograms showed a bone age of two years (Greulich 8z Pyle) and a normal skull. Results of electroencephalogram and ophthalmological examinations were also normal. The diagnosis was Silver-Russell syndrome with idiopathic growth hormone deficiency. She was treated with human growth hormone 8 IU weekly starting at age 7*/12 years. During the first three months of treatment she grew 2.4 cm, whereas she had grown only 11.7 cm in the previous three years.
