Etiological profile of short stature

Objective : To study the frequency of various causes of short stature and their etiological contribution in a referral endocrinology and metabolism clinic at a tertiary care hospital.Methods : 352 children with growth retardation attending endocrine clinic between Feb 1999 to Mar 2001 were investigated for etiology of short stature. Agrawal’s growth chart was used for percentiles and height velocity. Various relevant radiological, biochemical and hormonal investigations were performed.Results : Normal variant short stature was the most common cause of short stature followed by endocrine causes.Conclusion : In males most common cause of short stature was constitutional growth delay, while in females most common cause of short stature was familial short stature.     

Zinc supplementation increases growth velocity of male children and adolescents with short stature

We assessed the effect of zinc supplementation on growth velocity in 79 children and adolescents (48 males, 38 females) with idiopathic short stature. Their height-for-age was < 5th percentile (NCHS standards) and their weight-for-age was normal. Patients were assigned randomly to a supplemented group (S) to receive Zn 10 mg/day or to a placebo (P) group, according to gender and age, and were followed-up for 12 months using a double-blind design. Weight, height, armspan, length of lower segment and plasma and hair concentrations of Zn were measured at 0, 3, 6 and 12 months. On admission and at 6 months, energy, protein, dietary fiber and zinc intakes were similar for groups S and P; mean zinc intake was < 6.5mg/day. No differences were found in plasma zinc, hair zinc, weight. armspan or lower segment increments. Pre-adolescent males in group S had a significantly greater increase in stature compared with group P (6.2 ± 2.1 versus 4.5 ± 1.2 cm/year p < 0.025); z score improved from —2.42 to —2.24 in group S and from — 2.63 to — 2.61 in group P. For adolescent males, the difference was also significant (8.3 ± 1.5 versus 6.2 & 2.1 cm/year; p < 0.025). No differences were noted in females. In Chilean male schoolchildren and adolescents with idiopathic short stature, zinc supplementation increases growth velocity over a 12-month period.     

Clinical problem in managing adolescents with short stature

Short stature in adolescence may cause some medical, psychological and social concerns, in addition to specific diagnostic and therapeutical problems. Among the various causes of short stature, the present review will examine in detail some forms such as constitutional delay of growth and puberty, growth hormone deficiency and Turner's syndrome, since these forms will benefit from an appropriate medical approach in adolescence. The diagnostic and therapeutical problems these forms may present in adolescence are also discussed.     

Psychological findings in children with short stature

AIM: The aim of this study is to evaluate the psychological findings in patients with short stature. METHODS: We studied 19 subjects, 13 males and 6 females, with age range 7-14 years. We evaluated heigth, growth velocity, bone age, target height and growth hormone secretion after provocative stimuli. Psychological evaluation included: Kovacs Scale, Children's Depression Inventory (CDI), Anxiety Scale (Busnelli-Dall'Aglio-Farina); drawing of the human figure (Goodenough Test); Raven Test for neuropsychological performances (P.M. 38 and 47). Statistical analysis was performed using Mann-Whitney U-test. RESULTS: We diagnosed familial short stature (FSS) in 7 patients and growth hormone deficit (GHD) in 12. No statistical difference was found in the anxiety and depression tests, although the score was higher in GHD patients. The human figure drawing and the interview revealed low self-esteem, sense of inadequacy, dependence from parents, social inhibition in all patients. These characteristics were more evident in patients with GHD. Neuropsycho-logical evaluation by Raven test showed normal score in all patients, however subjects with FSS exhibited a higher score than with GHD (p<0.05). CONCLUSIONS: Our data suggest a negative influence of short stature on the affective field of children with short stature; GHD patients exhibited lower neuropsychological performances and more psychological problems than patients with FSS.     

Psychological adjustment of children with short stature: a comparison of clinic-referred children with short stature and type 1 diabetes mellitus

This study compared the psychological adjustment between children with short stature and youth with type 1 diabetes mellitus (DM1). The Child Behavior Checklist, Children's Depression Inventory, Social Anxiety Scale for Children--Revised, and Asher Loneliness Scale were administered to 58 children (26 with short stature and 32 with DM1) and a parent during a regularly scheduled clinical appointment for endocrinology care. Results show that the parents of children with short stature rated their children as having more social, thought, and attention problems, and exhibiting greater delinquent behavior, as compared to parental ratings of children with DM1. No diagnostic group differences in child or parent-rated internalizing symptoms were found. Implications of these findings for personnel working with children with short stature are discussed.     

Evaluating short stature in children

A child's growth reflects his or her general state of health. Growth deceleration therefore may result from processes that ultimately threaten much more than height and weight. Accurate height and weight measurements and routine plotting of growth data on standard growth charts are important elements of pediatric practice. A decrease in length of height percentiles may be physiologic in infancy and in puberty. However, in order to distinguish physiologic from pathologic growth deceleration, a careful history and physical examination needs to be obtained. Quite frequently, laboratory and radiographic studies are needed to distinguish with confidence between causes of slow growth in these phases of life. Such studies are always required to evaluate growth deceleration during childhood, because growth deceleration in this phase is virtually always the result of a pathological process. If constitutional growth delay is diagnosed, reassurance is often adequate treatment, though continued monitoring of growth and bone age is indicated. Growth deceleration due to other processes is often treatable. Delineation of the causes of poor growth is particularly important because these disease processes may produce other serious problems.     

Idiopathic short stature in children

Idiopathic short stature represents a group of conditions that are not definable by current biochemical criteria but usually respond to GH therapy. Natural-history studies confirm adult height will be short in untreated ISS individuals. Children and adults with short stature have disadvantages compared with their peers. The evidence for benefit from treatment of children with idiopathic short stature is strong. Numerous studies, now including a placebo-controlled study, have demonstrated the positive effect of GH treatment on final height. The effect of GH treatment is quantitatively similar to results seen in other non-GH-deficient conditions. Although currently very expensive, rhGH treatment is relatively safe. GH treatment of children with idiopathic short stature should not be withheld because of our inability to explain the etiology or because of the inadequacy of our current diagnostic tests. Continued efforts to delineate specific causes of poor growth in ISS individuals may result in our being able to predict subsets of individuals who will respond well to GH and subgroups who may be considered for other treatments, such as IGF-1 or a combination of IGF-1 and IGFBP-3.     

Parental stress and maladjustment in children with short stature

This study examined the psychometric properties of a measure of chronic disease-related parental stress, the Pediatric Inventory for Parents (PIP), in a sample of 22 children with short stature. Additionally, we investigated relations among disease-related parental stress, parental state anxiety, and children's behavioral and psychological maladjustment. Results demonstrated acceptable internal consistency and convergent validity for the PIP. Significant and positive relations of medium to large effect sizes between parenting stress and internalizing and externalizing maladjustment were found. Recommendations for use of the PIP in clinical settings and future research directions are discussed.     

矮身材儿童诊治指南

中华医学会儿科学分会内分泌遗传代谢学组在1998年曾提出临床应用基因重组人生长激素的建议(中华儿科杂志,1999,37:234),在此基础上,2006年10月再次对矮身材儿童的诊断治疗进行了广泛深入的讨论,取得了一致意见,现综合如下,俾便临床工作者参考.     

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目的调查肥胖及矮小儿童自我意识水平,探讨其与正常儿童自我意识方面的差异。方法 2008年8月至2008年12月用Piers-Harris儿童自我意识量表对湖南省长沙市7所中学中86例肥胖及69例矮小儿童进行心理健康调查。结果肥胖儿童在行为、躯体外貌、合群、焦虑及自我意识总分得分均低于全国常模水平,差异有统计学意义(P<0.05或0.01);肥胖儿童在智力与学校及幸福与满足两个分量表得分与全国常模水平的差异无统计学意义(P均>0.05)。矮小儿童在行为、躯体外貌、幸福与满足、合群及自我意识总分得分均低于全国常模水平,差异有统计学意义(P<0.05或0.01);矮小儿童在智力与学校表现及焦虑两个分量表得分与全国常模水平差异无统计学意义(P均>0.05)。结论肥胖及矮小儿童自我意识水平较正常同龄儿童低,且其自我意识水平高低程度不一。青少年的自我意识水平与躯体疾病密切相关,有必要在医学治疗的基础上加入相应的心理干预措施以促进其身心健康。     

2132例矮小症患儿病因及骨龄分析

目的探讨矮小症患儿的病因分类及其骨龄落后情况。方法回顾性分析2009年1月至2014年12月住院治疗2 132例矮小症患儿的临床资料。结果 2 132例矮小症患儿中男1 333例、女799例,平均年龄(9.03±3.04)岁,平均骨龄(6.81±3.05岁);完全性生长激素缺乏症324例(15.20%),部分性生长激素缺乏症780例(36.58%),多垂体激素缺乏症27例(1.27%),甲状腺功能减低症13例(0.61%),特发性矮小893例(41.89%),低出生体质量儿19例(0.89%);骨骼发育障碍8例(0.38%),颅内肿瘤13例(0.61%),慢性系统性疾病15例(0.70%),染色体疾病40例(1.88%)。ANOVA分析显示,不同病因组骨龄落后情况不同,多垂体激素缺乏症、颅内肿瘤导致的矮小症骨龄落后较其余各病因组明显。生长激素峰值与骨龄落后值之间存在负相关关系。结论生长激素缺乏症是矮小症最常见病因。矮小症患儿普遍存在骨龄落后,骨龄落后值与生长激素峰值之间存在负相关关系,联合激素缺乏对骨龄的影响更为显著。     

Use of aromatase inhibitors in children with short stature

Estrogen has been shown to have an important role in skeletal maturation in both males and females. The use of aromatase inhibitors may provide a means to delay skeletal maturation and increase final height in children with short stature. These medications have been used primarily in women with breast carcinoma and also in children with autonomous estrogen production, such as patients with McCune-Albright Syndrome. Several studies have evaluated the safety and metabolic effects in adults. A few studies in children have evaluated the efficacy and safety of these medications. These studies demonstrate a beneficial effect on bone age advancement and predicted adult height. Other studies have evaluated the effects on bone mineral density, lipid metabolism and adrenal function in children. This review summarizes the studies in the pediatric population and some of the metabolic effects in adults.     

Linear growth and zinc supplementation in children with short stature

Physical growth retardation is an early and prominent feature of zinc deficiency, but the effect of zinc supplementation in children is still not completely clear. This study investigated the impact of zinc supplementation on linear growth, growth velocity, IGF-I levels, and skeletal maturation of short children during and after mineral supplementation. The study was designed as a double-blind, randomized, controlled trial of zinc supplementation during a 6-month period, with a subsequent 6-month follow-up. Anthropometric data were collected at 0, 6, and 12 months. Measurements included plasma Zn, IGF-I, height, weight, triceps skinfold thickness, and body mass index. Eighteen healthy pre-pubertal short children (z-score -2.0) 7 to 10 years old with normal GH and IGF-I levels were randomized to two groups, one with zinc supplementation (5 mg/kg/d of ZnSO4) and the other with placebo. In the first 6 months, only height velocity increased significantly, 5.99+/-0.80 cm/yr vs 5.05+/-0.85 cm/yr (p=0.03). After 12 months, height velocity returned to the initial values, 3.92+/-0.59 cm/yr vs 4.19+/-1.08 cm/yr (p=0.29). This study indicates that zinc supplementation increased growth velocity, but these effects did not persist after supplementation was discontinued.     

Pituitary hyperplasia in children with short stature and primary hypothyroidism

We present eight cases with short stature, pituitary hyperplasia, and hypothyroidism. Pituitary hyperplasia due to primary hypothyroidism was diagnosed on the basis of clinical manifestations, endocrine examination and MRI. After 2 to 6 months of L-thyroxine replacement therapy, the signs of hypothyroidism disappeared; free triiodothyronine, free thyroxine, thyrotropin and prolactin became normal; and pituitary enlargement regressed. In two children, the growth rate remained low when treated with L-thyroxine, but with additional recombinant human growth hormone (rhGH), the height increased by 11 cm per year. No recurrence of lesions was found on follow-up.     

Growth hormone secretory patterns in children with short stature

To assess whether growth-retarded children with a stimulated growth hormone (GH) level greater than 10 ng/mL have an abnormality in spontaneous GH secretion, we measured GH levels every half hour for 24 hours in 50 children 2.7 to 17 years of age. Growth rate was subnormal in all. Mean 24-hour GH concentration ranged from 1.2 to 7.7 ng/mL, and was significantly greater in pubertal than in prepubertal children (P less than 0.01). In both groups, GH concentration during sleep was significantly greater than during wakeful hours (P less than 0.0005); 24-hour GH concentration correlated significantly with sleep-induced GH peak. A decrease in 24-hour GH concentration and sleep-induced GH peak were noted in four pubertal children with stimulated GH less than 15 ng/mL. A progressive and significant increase in somatomedin C (SmC) level was noted with increasing age and sexual development. No correlations were found between 24-hour GH concentration and rate of growth, age, or bone age. Serum SmC values correlated significantly with age and bone age (P less than 0.01), and with 24-hour GH concentration only in prepubertal children (P less than 0.05). A strong correlation between SmC and growth rate was noted only in pubertal children (P less than 0.01). Growth velocity increased significantly during GH therapy regardless of the 24-hour GH concentration. Our results indicate that in children with growth retardation there is a wide variation in 24-hour GH concentration and a significant increase in GH concentration during puberty; the GH concentration during nocturnal sleep, rather than an entire 24-hour GH concentration, can be used for evaluation; during puberty the SmC level reflects sexual development more than GH reserve; and GH therapy appears to increase growth velocity in both non-GH-deficient and partially GH-deficient short children.     

特发性矮身材儿童循环microRNA表达水平的研究

目的 研究特发性矮身材（ISS）患儿循环miRNA表达水平,初步建立ISS循环miRNA表达谱,为进一步探索miRNA与ISS发生、发展及寻找新的生物标记物提供理论依据。方法 选取20例ISS患儿和20例健康对照儿童,提取血清总RNA,利用microRNA microarray技术比较ISS患儿与对照儿童血清miRNA的表达差异;实时荧光定量PCR技术验证芯片结果,生物信息学分析软件对筛选出的具有显著差异表达的miRNA进行靶基因预测。结果 ISS组与对照组对比共有40个差异表达的miRNA,其中表达上调的miRNA有24个;表达下调的有16个;实时荧光定量 PCR对其中2个表达上调（miR-185和miR-574-5p）和2个表达下调（miR-497和miR-15a）的miRNA进行验证,ISS患儿血清中miR-185较对照组明显上调（P<0.05）,miR-497明显下调（P<0.05）。结论 ISS患儿与健康对照血清miRNA表达存在显著差异,提示血清miRNA可能与ISS的发生发展有密切的关系。