急性白血病化疗对垂体、性腺、甲状腺激素的影响

目的评价儿童急性白血病(AL)及联合化疗对其垂体、性腺、甲状腺激素的影响。方法测定37例(男23例,女14例)AL患儿化疗前后和20例对照组血清促卵泡激素(FSH)、黄体生成素(LH)、睾酮(T)、雌二醇(E2)、催乳素(PRL)、生长激素(GH)、促甲状腺激素(TSH)、游离三碘甲状腺原氨酸(FT3)、游离甲状腺素(FT4)水平。结果AL患儿FSH、LH、T、E2、GH、FT4、TSH水平化疗前后及对照组各组差异无显著意义(P>0.05),PRL水平治疗前高于对照组(P<0.01),男童PRL水平治疗前后比较差异有显著意义(P<0.01)。FT3治疗前低于对照组(P<0.001),治疗后趋于正常(P>0.05)。结论AL本身及联合化疗对患儿垂体-性腺轴功能及GH水平无明显影响。AL本身可使PRL水平升高,而化疗药物可抑制男童PRL的分泌。联合化疗对甲状腺功能无影响,FT3水平对判断AL患儿病情变化、疗效及预后有一定参考意义。     

甲状腺功能减低症患儿线性生长的评估

目的观察分析左甲状腺素钠治疗甲状腺功能减低症(甲低)患儿的生长速率(GV)、身高年龄(HA)及骨龄(BA)变化情况,探寻HA、BA与生活年龄(CA)间的变化,揭示其线性生长规律。方法对确诊为甲状腺功能减低症的26例患儿进行随访,于治疗前及治疗过程中监测身高,计算GV、HA并拍摄X线骨龄片;同时用化学发光法检测血清三碘甲状腺原氨酸(T3)、游离三碘甲状腺原氨酸(FT3)、甲状腺素(T4)、游离甲状腺素(FT4)、促甲状腺素(TSH)、抗甲状腺过氧化酶抗体(TPOAb)及抗甲状腺球蛋白抗体(TGAb)。结果甲状腺功能减低症患儿治疗前,BA和HA明显小于CA,经左甲状腺素钠治疗后,BA和HA呈现追赶生长现象,即骨龄增加(ΔBA)和身高年龄增加(ΔHA)大于生活年龄增加(ΔCA)。治疗过程中ΔBA与ΔHA呈递减趋势,且两者保持平行,即ΔBA/ΔHA接近1。结论左甲状腺素钠对甲状腺功能减低症患儿具有明显的促线性生长作用,动态观察BA及HA对甲状腺功能减低症患儿的诊断、治疗及预后判断有重要的临床指导意义。     

先天性甲状腺功能低下症127例

目的探讨先天性甲状腺功能低下症（CH）患儿诊治措施及预后情况。方法对本院筛查中心确诊并随访3年以上的127例CH患儿资料进行分析。男59例,女68例;年龄3.0~6.5岁。确诊年龄10~56 d,平均29.79 d。对筛查阳性可疑患儿召回后抽静脉血进行血清促甲状腺素（TSH）、三碘甲酰原氨酸（T3）、甲状腺素（T4）及游离三碘甲酰原氨酸（FT3）、游离甲状腺素（FT4）测定以确诊。一旦确诊立即予治疗。根据TSH、T3、T4水平调整药物剂量,定期随访复查甲状腺功能并进行体格、智力发育评价及骨龄分析和甲状腺B超、核素扫描等检查。结果127例血清TSH均明显增高（〉50 m IU/L）伴T4或FT4下降,其中55例伴T3、FT3下降。服用甲状腺片或优甲乐治疗后,68例血TSH、T3、T4迅速恢复正常。2岁左右停药观察,随访6~12个月,复查甲状腺功能均正常,诊断为暂时性甲状腺功能低下者终止治疗。另59例随访期间优甲乐剂量随年龄增长需渐加量,甲状腺B超异常,考虑永久性甲状腺功能低下目前继续服药。结论甲状腺发育不良（包括缺如、异位、发育不良）是引起永久性甲状腺功能低下最常见的原因。其治疗应根据病情采用不同的剂量并定期复查,使剂量达个体化为宜。     

儿童颅咽管瘤术后重组人生长激素替代治疗疗效及安全性对照研究

目的:观察儿童颅咽管瘤（CP）术后致身材矮小者使用重组人生长激素（rhGH）治疗的疗效及安全性。方法:纳入CP术后在复旦大学附属儿科医院内分泌遗传代谢科定期随访的患儿。分为rhGH治疗组和rhGH未治疗组。CP术后1~3个月病情稳定后首次随访患儿垂体功能,之后每3个月随访身高、体重、甲状腺功能和生长因子（IGF-1、IGF-BP3）,比较两组治疗前后身高变化。每6～12个月随访头颅MRI,观察两组患儿CP复发及继发肿瘤发生情况。结果:CP术后患儿共18例,男、女各9例,均存在生长激素缺乏症（GHD）。rhGH治疗组和rhGH未治疗组分别为6和12例,平均手术年龄分别为（10.1±4.2）和（10.1±4.0）岁。16/18例（88.9%）存在垂体功能减低,其中12例（75.0%）伴甲状腺功能减低,9例（56.2%）伴中枢性尿崩症,4例（25.0%）伴性发育延迟,11例（68.8%）伴促肾上腺皮质激素下降。rhGH治疗组中2例单用rhGH治疗,4例同时使用左旋甲状腺素、醋酸去氨加压素和氢化可的松治疗,开始给予rhGH治疗的时间为术后（3.5±2.4）年,平均治疗时间为（2.6±2.2）年,治疗前身高增长速度（HV）为每年（3.1±1.0）cm,身高标准差（HTSDS）为（-2.63±0.93）,至本文观察时点HV为每年（12.0± 1.10）cm, HTSDS为（-0.21±1.39）,生长因子水平较治疗前明显上升。rhGH未治疗组治疗前HV为每年（3.2±0.9）cm,HTSDS为（-2.44±0.62）,至本文观察时点HV为每年（3.8±1.0）cm,HTSDS为（-3.76±0.97）,生长因子水平治疗前后差异无统计学意义。两组随访头颅MRI均未见异常。结论:儿童CP术后可出现多种内分泌激素异常,GH替代治疗可明显改善患儿身高,治疗期间未见原肿瘤复发及继发肿瘤发生。     

1型糖尿病患儿垂体及甲状腺功能变化

目的 了解1型糖尿病患儿的垂体及甲状腺功能变化。方法 选择控制良好的1型糖尿病患儿、正常儿童各15例,分别作生长激素(GH)试验及三碘甲腺原氨酸(T_3)、甲状腺素(T_4)、促甲状腺素(TSH)的检测。结果 在生长激素激发试验中,其生长激素基础值糖尿病儿童与对照组无显著差异(P>0.05);而用药及运动后两组有显著差异(P分别<0.05,<0.01),且T_3、T_4、TSH两组也有显著差异(P分别<0.05,<0.01)。结论 1型糖尿病患儿生长激素储备功能与甲状腺功能特别是TSH明显降低下。     

儿童垂体功能减退症

垂体是维持生命的重要器官,包括垂体前叶和垂体后叶,垂体前叶也称"腺垂体",由5种细胞分泌6种激素,分别为生长激素(GH)、促肾上腺皮质激素(ACTH)、促甲状腺素(TSH)、促黄体生成激素(LH)、促卵泡刺激激素(FSH)及催乳素(PRL);垂体后叶为神经垂体,分泌血管加压素.垂体前叶激素TSH、ACTH、LH、FSH促使其相应腺体(靶器官)分泌三碘甲状腺原氨酸(T3)及甲状腺素(T4)、肾上腺皮质激素、性激素包括睾酮(T)和雌二醇(E2),GH、PRL则直接与相应的细胞受体蛋白相结合发挥其各自的生理效应.     

南京地区1998-2009年新生儿先天性甲状腺功能减低症筛查及治疗随访结果分析

目的 总结并分析1998年1月- 2009年12月南京地区新生儿先天性甲状腺功能减低症(CH)的筛查结果.方法 采集出生72 h新生儿442 454例的足跟血滴于滤纸上,采用时间分辨免疫法测定滤纸血斑促甲状腺激素(TSH),阳性者召回进一步测定静脉血TSH、三碘甲状腺原氨酸(T3)、四碘甲状腺原氨酸(T4)、游离T3(FT3)、游离T4(FT4)以明确诊断.确诊者立即开始予左旋甲状腺素片(4.3～12.0μg·kg-1·d-1)替代治疗,定期监测其甲状腺功能,测量其身高、体质量,其中68例患儿子智力测试,以评估疗效.结果 12 a共筛查442 454人,确诊CH 183例,发病率为0.41‰,对117例进行随访.初始治疗时间的中位数为18 d(7～67d),初始左旋甲状腺素的平均剂量为7.35 μg·kg-1·d-1.CH患儿的身高、体质量结果基本达到正常参照标准.盖泽尔婴幼儿发展量表(GESELL)测试结果显示1例智能发育落后,8例智能发育迟缓.T4、FT4的治疗前水平与患儿的GESELL测试总分、适应性及精细运动均呈正相关(Pa＜0.05).结论 经筛查确诊的CH患儿,应尽可能早地进行激素替代治疗,可有效改善其预后.因此新生儿筛查及随访治疗工作值得推广和完善.     

联合检测促甲状腺素及游离甲状腺素筛查新生儿先天性甲状腺功能减低症

目的初步探讨联合检测干血滤纸片中促甲状腺素(TSH)及游离甲状腺素(FT4)水平筛查新生儿先天性甲状腺功能减低症(CH)的临床意义。方法对2013年6月至2013年12月出生的活产新生儿,采用时间分辨荧光免疫分析法联合检测干血滤纸片中TSH及FT4水平;对筛查阳性者再采血检测血清TSH及FT4水平,并与干血滤纸片法结果进行比较。结果共筛查新生儿31 199例,确诊CH 12例,发生率1/2 600,高TSH血症4例,未检测到垂体性甲状腺功能减低症。筛查确诊CH新生儿的血清TSH及FT4的检测结果与干血滤纸片检测结果一致,差异无统计学意义(P0.05)。结论联合检测干血滤纸片中TSH及FT4水平可用于新生儿CH筛查,并有助于早期诊断与治疗,以及对中枢性CH的筛查。     

深圳地区先天性甲状腺功能减退症的治疗及远期随访

目的 探讨先天性甲状腺功能减退症(CH)患儿早期治疗效果和对生长发育的影响.方法 对2005年9月-2006年12月深圳市出生的新生儿进行足底血片促甲状腺激素(TSH)筛查,筛查阳性儿童召回,行血清促甲状腺激素(TSH)、游离三碘甲状腺原氨酸(FT3)、游离甲状腺素(FT4)检测.确诊CH 68例.平均27.1 d开始治疗,口服左旋甲状腺素钠片.定期检测患儿TSH、FT3、FT4,并根据临床表现调整药物剂量使FT4维持在正常高值水平.监测患儿体格发育如头围、身高和体质量.采用贝利婴幼儿发育量表方法进行智力发育评价.采用SPSS 12.0软件进行数据分析.结果 确诊患儿治疗1个月后临床症状完全消失,TSH、FT4维持正常水平.身高、体质量、头围等体格发育指标均在正常范围,均值50%,贝利婴幼儿发育量表测试中运动发育指数测定均在冲等水平,智力发育指数测定均基本达到同龄健康儿童.结论 早期诊治CH能明显改善预后,降低脑损害、智力低下的发生率.新生儿筛查是早期诊断CH的有效方法.     

继发于分泌TSH垂体腺瘤的甲状腺功能亢进症

在儿童中,由垂体腺瘤分泌的促甲状腺素(TSH)引起的甲状腺功能亢进症极为罕见。该文报道1例患分泌 TS 垂体腺瘤的病儿,并对其治疗加以讨论。病例患儿男,15岁7个月入院前3周体重减轻6.8kg,过度兴奋,失眠,学习成绩下降,多汗,不耐热,手震颤及前额疼痛,不发热。家族中无明确的甲状腺疾病史。父母身高分别为175cm 和177cm。体检:焦虑,多汗,不能静坐。身高     

Autoimmune Hypothyroidism Presenting as Pituitary Hyperplasia

Pituitary hyperplasia with hyperprolactinemia has been described as a rare presentation of primary hypothyroidism. A 12-y-old child presented with intermittent headache, easy fatigability, coarseness of facial features, and hoarseness of voice for 6 mo duration. Brain imaging findings showed pituitary hyperplasia; hormonal assessment revealed primary hypothyroidism and hyperprolactinemia. Pituitary hyperplasia regressed with thyroid hormone replacement therapy. This report describes an unusual case of pituitary hyperplasia with hyperprolactinemia secondary to primary hypothyroidism.     

Pituitary pseudotumor with unusual presentation reversed shortly after the introduction of thyroxine replacement therapy.

Pituitary pseudotumor (pituitary thyrotroph hyperplasia) caused by unrecognized and untreated hypothyroidism has been described as a rare condition, mostly in adults. There are only a few reports on this condition in children. Here we describe an unusual association of pituitary pseudotumor with hypothyroidism, vaginal bleeding, and growth retardation in a girl at an early stage of puberty. Hormonal testing showed low thyroxine and high TSH levels, hyperprolactinemia, low growth hormone levels and prepubertal levels of gonadotrophins. Ovarian cyst was detected by ultrasound. A large intrasellar mass expanding beyond the sella turcica was detected on MRI. Homogeneous contrast enhancement confirmed pituitary hyperplasia. Therapy with L-thyroxine resulted in rapid improvement of the clinical signs, normalization of the hormone levels, and resolution of the pituitary hyperplasia on MRI within 40 days. In children, prolonged unrecognized primary hypothyroidism might be accompanied by growth deficiency and pubertal disharmony. Pituitary hyperplasia should be sought in these cases.     

Pituitary abnormalities detected by high resolution computed tomography with thin slices in primary hypothyroidism and Turner syndrome

Pituitary hyperplasia, microadenoma or an empty sella was detected in three children with primary hypothyroidism and three with Turner syndrome with the use of high resolution contrast-enhanced computed tomography (CT) with thin slices. Hyperplasia or microadenoma of the pituitary gland frequently occurs secondary to primary hypothyroidism and gonadal dysgenesis, and recognition of these results may eliminate unnecessary surgery in favor of hormone replacement therapy. High resolution contrast-enhanced CT, especially coronal CT, with thin slices is very helpful in demonstrating these pituitary abnormalities.     

Pituitary enlargement, hypertrichosis and blunted growth hormone secretion in primary hypothyroidism

Pituitary hyperplasia, hypertrichosis and blunted growth hormone (GH) secretion were observed in three children with untreated primary hypothyroidism. These abnormalities disappeared and improved after thyroid hormone therapy. The recognition of these associations may eliminate unnecessary surgery and GH therapy and lead to the choice of thyroid hormone replacement therapy.     

Pituitary Enlargement, Hypertrichosis and Blunted Growth Hormone Secretion in Primary Hypothyroidism

ABSTRACT. Pituitary hyperplasia, hypertrichosis and blunted growth hormone (GH) secretion were observed in three children with untreated primary hypothyroidism. These abnormalities disappeared and improved after thyroid hormone therapy. The recognition of these associations may eliminate unnecessary surgery and GH therapy and lead to the choice of thyroid hormone replacement therapy.     

A 5-year-old boy with atrophic autoimmune thyroiditis caused by thyroid-stimulation blocking antibodies

A 5-year-old boy was presented for a growth disturbance, which was initially noted at 3 years of age. Endocrinological testing identified severe hypothyroidism, defined by the following levels: TSH 990.5 microU/mL, F-T3 0.26 pg/mL, and F-T4 0.09 ng/dL. Serum anti-thyroid peroxidase (TPO) antibodies were 158 IU/mL and serum thyroid-stimulation blocking antibodies (TSBab) levels were 82.1 IU/mL (normal range < 45.6). Thyroid scintigraphy with 99mTc showed markedly decreased uptake, and magnetic resonance imaging (MRI) revealed pituitary hyperplasia. He was diagnosed with atrophic autoimmune thyroiditis. His thyroid function and pituitary size normalized following thyroid hormone replacement therapy. We report a rare case of a young boy with atrophic thyroiditis caused by TSBab.     

Congenital hypothyroidism. The effect of stopping treatment at 3 years of age

Fifty-six children with congenital hypothyroidism diagnosed by neonatal screening were reviewed at 3 years of age or older. The presence or absence of the thyroid gland was determined by radionuclide scanning prior to treatment in the newborn period. Thyroxine therapy was discontinued in those children who did not have anatomic defects or a secondary rise in their thyrotropin (thyroid-stimulating hormone [TSH]) level once it was suppressed by thyroid hormones. Sixteen of 17 children developed a low thyroxine and an elevated TSH level within three to six weeks. One child was not receiving thyroxine for nine months and was clinically and biochemically euthyroid. We conclude that (1) newborn thyroid scans are useful to determine the cause of hypothyroidism, (2) a secondary rise in the TSH level indicates permanent hypothyroidism, (3) only about one third of infants whose condition is diagnosed by newborn screening will qualify for a trial off therapy at 3 years of age, (4) only 1% to 2% of infants whose condition is diagnosed by newborn screening have transient hypothyroidism, and (5) a three-week period of hormone withdrawal after the age of 3 years seems adequate and safe to confirm permanent hypothyroidism.     

Thyroid dyshormonogenesis: severe hypothyroidism after normal neonatal thyroid stimulating hormone screening

We report four children who presented no evidence of primary hypothyroidism in the neonatal period, either clinically (normal growth velocity) or biochemically (normal plasma levels of thyroid stimulating hormone and/or thyroid hormone). However, in early childhood, these children developed severe hypothyroidism due to dyshormonogenesis. We conclude that apparently normal thyroid function in the neonatal period does not preclude the development of severe hypothyroidism due to thyroid dyshormonogenesis later in childhood.     

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.     

Dysgenesis of thyroid is the common type of childhood hypothyroidism in environmentally iodine deficient areas of north India

Forty-five children (28 girls and 17 boys; mean age 4.5 years) with hypothyroidism referred to us from January 1989 to November 1990 were evaluated prospectively for the pattern of hypothyroidism by hormone assays, scintiscan and urinary iodine estimation. Among the 6 children from non-endemic areas, athyreosis and/or hypoplasia were seen in 3, ectopia in 2 and dyshormonogenesis in 1. Of 39 children from moderate to severe environmentally iodine deficient regions, 18 (46%) had athyreosis and/or hypoplasia and 10 (26%) ectopic thyroid. Iodine deficiency was seen in 4, dyshormonogenesis in 4, secondary/tertiary hypothyroidism in 2 and thyroiditis in 1. The mean age of these children at the onset of symptoms was 1.4 years and at clinical presentation 4.5 years. There was significant growth retardation with 54% of children being below the 5th centile of Indian standards. There was no significant difference in the age at onset of symptoms and presentation, clinical features and bone age for the different types. The levels of serum total T4 were significantly low in dysgenesis (athyreosis, hypoplasia and ectopia, p < 0,001). Dysgenesis of the thyroid is the most common type of childhood hypothyroidism in iodine deficiency endemias. We postulate that severe iodine deficiency in the intrauterine and early neonatal period may lead to dysgenesis of the thyroid.