Increased incidence of congenital hypothyroidism due to iodine deficiency

BACKGROUND: The incidence of congenital hypothyroidism (CH) is expected to be elevated in iodine-deficient areas. In this study, the authors aimed to determine the incidence of transient and permanent CH in a large city which is known to be in the zone of moderate iodine deficiency. METHODS: Newborn babies in Bursa, Turkey, were screened by measurement of serum thyroid-stimulating hormone (TSH) obtained by heel prick. The babies who had a serum TSH >20 mIU/L were recalled for measurement of T4 and TSH in venous serum. RESULTS: A total of 11 770 newborns were screened over a period of 9 years. The incidence of CH was found to be 1/840. However, after excluding the transient cases, permanent CH was diagnosed in 1/2354. It was impossible to distinguish transient patients from permanent CH by initial laboratory tests (P > 0.05). The estimated power of the study in determining the incidence of CH in the population was 90% (P < 0.05). CONCLUSION: The authors conclude that the incidence of CH is very high in their population which warrants a country-wide neonatal screening program. Since transient cases cannot be distinguished and untreated transient hypothyroidism may also cause mental retardation, treatment must be started as early as possible with frequent monitoring to optimize the outcome and identify the transient patients.     

Appropriate Replacement Dose of Thyroxine in Primary Hypothyroidism

ABSTRACT An ultrasensitive thyrotropin (TSH) assay was used to determine how many of 65 patients with primary hypothyroidism on thyroxine (T₄) replacement therapy had suppressed serum TSH. In 13 patients (20%) TSH levels ≤0.1 mlU/l were found, indicating an overdose of thyroxine. After correction of the dose, 48 patients had normal TSH values. Their mean dose of thyroxine was 119 μg/24 hours, and the appropriate replacement dose tended to decline with advancing age. The serum level of thyroid hormones during replacement therapy with thyroxine very imperfectly reflected serum TSH values. It is concluded that overdose of thyroxine is common when suppressed serum TSH is used as an end point. Biochemical follow-up of replacement therapy with thyroxine in primary hypothyroidism therefore requires the use of an ultrasensitive TSH assay in order to detect such suppression. Serum levels of thyroxine or triiodothyronine (T₃) during thyroxine therapy are poor indicators of pituitary TSH secretion and are therefore not useful as parameters of adequate thyroxine dosage.     

彩色多普勒超声诊断先天性心脏病

彩色多普勒超声和二维超声心动图并用,不仅可观察和了解心脏解剖、形态及腔室大小,又能观察血流动力学改变。我们从1991年11月至1992年11月间应用上述方法诊断先天性心脏病共18例,均经我院和外院手术证实:室间隔缺损7例;房间隔缺损6例;动脉导管未闭5例,其中1例误诊为肺动脉瓣狭窄,诊断准确率达94.4％。我们认为彩色多普勒诊断先天性心脏病方法安全,准确无损伤,为临床及术前提供了较可靠的诊断依据,但检查者必须了解心脏及大血管的解剖关系,结合临床才能提高诊断准确率,减少漏、误诊的发生。     

Congenital pseudarthrosis of the clavicle: surgery or conservative treatment

Congenital pseudarthrosis of the clavicle is very rare. We report the results of two cases, one managed conservatively and the second surgically. Neither patient had functional deficit, but the one treated surgically ended up with a scar, persisting non-union and a short clavicle. Surgical treatment should be discouraged for this condition. Received: 17 June 2002, Accepted: 17 July 2002     

The posterior urethral valve uropathy: Results of treatment

Nineteen children treated for posterior urethral obstruction due to congenital valve in the University of Benin Teaching Hospital, Benin City, Nigeria, over a 9-year period have been analysed. Their ages ranged from birth to 12 years. Results show that associated kidney pathology may be irreversible even after successful excision of the valve. This determines the final prognosis, which is worse the younger the child at presentation.     

测定血浆心钠素对小儿心功能不全的诊断意义

采用放射免疫法测定60例心血管病患儿的血浆心钠素,结果,在心功能不全,先天性心脏病、心肌炎者,明显高于正常组;心功能不全组明显高于非心功能不全组。非心功能不全的心血管疾患(如:先天性心脏病、心肌炎)之间无显著差异。说明血浆心钠素测定可作为心功能不全判断指标,并可指导治疗。     

尿羟脯氨酸测定及临床意义

本文测定100名健康人尿羟脯氨酸参考值范围、其中藏族12名,经统计学处理男女性别之间、民族之间无显著性差异。测定15名甲状腺机能亢进、6例甲状腺机能减退、50例糖尿病患者尿羟脯氨酸值。结果甲亢在这四组(正常成人甲减、糖尿病)中含量最高,与其它三组比较有显著性差异(P<0.01)。甲减最低与其它三组比较有显著性差异(P<0.02)。糖尿病人略高于正常人。与文献报导基本相符。     

小儿先心病心电图P波,QRS波时限,振幅与左房和肺动脉压力的相关分析

小儿先心病术后左房夺和肺动脉压力的监测在ＩＣＵ中十分重要。心电图是论断和评价心脏疾患的常用方法。本文分析了３２例小儿先心病手术前后（伴肺动脉高压１６例）６个肢体导联心电图中Ｐ波和ＱＲＳ波时限总和及振幅总和与左房、肺动脉压力的关系。结果表明两者均有良好的相关性（ｒ＝０．８５￣０．８８，ｒ＝０ｍ７４￣０．８０，Ｐ〈０．０１），该法简单、方便，可广泛开展，尤其在术后未放置ＰＡ和ＬＡ管或在ＩＯＵ中已拨除Ｌ     

A Ro/SS-A auto-antibody positive mother's infant revealed congenital complete atrioventricular block,followed by insulin dependent diabetes mellitus and multiple organ failure

We experienced a congenital complete atrioventricular block infant who was born from a Ro/SS-A antibody positive mother. Ro/SS-A antibody was also found in this baby which was presumed to be mediated by the maternal placenta. Temporary cardiac pacing was required at birth and pacemaker implantation was performed at 9 months. At 11 months of age, the baby fell into shock and experienced multiple organ failure because of diabetes mellitus-induced coma. The association between congenital complete heart block and the Ro/SS-A antibody is well known. However, the accompaniment of insulin-dependent diabetes mellitus has not been reported previously. As the Ro/SS-A antigen appears in the cytoplasm of many tissues, the possibility of an association between Ro/SS-A antibody and diabetes mellitus is difficult to deny. We report this rare case to draw attention to the possibility that babies who are born from an Ro/SS-A antibody positive mother may develop diabetes mellitus as well as congenital complete heart block.     

Rhizomelic Bone Dysplasia with Club-like Femora (Case report and confirmation of a syndrome)

A newborn with rhizomelic bone dysplasia with club-like femora is reported. This is the fourth case Of this easily recognizable, recently reported, congenital bone disease. Maroteaux et al recently reported two patients with rhizomelic bone dysplasia and club-like femora as a distinctive new bone dysplasia. Their observation was confirmed by Gugliantini et al (2) who reported another case. This paper reports a fourth patient with this easily recognisable disorder.