先天性精囊缺如的临床特点和诊断分析

目的 探讨先天性精囊缺如的临床特点，提高其诊断水平。方法 分析21例患者的临床资料。经超声检查、盆腔CT或精道造影检查确诊。6例行睾丸穿刺活检或附睾穿刺检查。结果 双侧精囊缺如14例，单侧精囊缺如7例。合并先天性双侧输精管缺如（CBAVD）者13例，合并单侧输精管缺如（CUA-VD）者5例，合并双侧输精管异位开口于苗勒管囊肿者1例，同时合并单侧输精管缺如及对侧输精管异位开口于苗勒管囊肿者2例。6例行睾丸或附睾穿刺者均生精功能正常。结论 先天性精囊缺如不会单独出现，常合并输精管缺如或输精管末端异位开口。双侧精囊缺如者无生育能力，单侧精囊缺如者临床表现复杂多变。仔细检查阴囊内容物多可提供重要信息；超声、盆腔CT和精道造影检查可确诊。     

CT扫描检查在识别婴幼儿异位甲状腺中的应用

目的:通过CT扫描检查与超声检查、放射性核素显像检查的比较,确定CT扫描检查在鉴别异常甲状腺组织中的应用价值。材料与方法:选择19例患者,患者年龄从一个月的婴儿到18岁,这些患者在超声检查或放射性核素显像检查中被怀疑患有异常的甲腺组织或甲状腺发育不全,然后对这些患者均进行CT扫描检查。结果:通过检查发现,在所有的情况下,CT扫描检查能够诊断异位的甲状腺或发育不全甲状腺,采用超声检查或放射性核素显像的检查发现有7例病人的检查结果不正确,有2例病人在CT平扫检查不容易鉴别甲状腺组织,需要通过强化CT扫描检查来鉴别。结论:CT扫描检查在识别异位甲腺方面优于超声检查和放射性核素显像的检查。     

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

Thyroid gland agenesis is the most common cause of congenital hypothyroidism and is usually sporadic. We investigated a brother and sister from consanguineous parents, ascertained through systematic newborn screening, and initially diagnosed with thyroid agenesis. Careful cervical ultrasonography in both patients revealed a very hypoplastic thyroid gland. By direct sequencing of the thyrotropin receptor gene, we identified the substitution of threonine in place of a highly conserved alanine at position 553, in the fourth predicted transmembrane domain. The mutation was found homozygous in the affected siblings, and heterozygous in both parents and two unaffected siblings. Functional analysis in transfected COS-7 cells showed that it resulted in extremely low expression at the cell surface as compared with the wild-type receptor, in spite of an apparently normal intracellular synthesis. The small amount of mutated receptor expressed at the surface of transfected cells bound thyrotropin with normal affinity and responded in terms of cAMP production, but the in vivo significance of these data from overexpressed receptor in transfected cells is unclear. Of note, blood thyroglobulin was unexpectedly elevated in the patients at the time of diagnosis, a finding that might prove useful in refining etiologies of congenital hypothyroidism.     

Correlation of computerized gray-scale sonographic findings with thyroid function and thyroid autoimmune activity in patients with Hashimoto's thyroiditis

PURPOSE: The objective of this study was to retrospectively assess whether computerized gray-scale sonography can allow objective measurement of thyroid echogenicity in patients with Hashimoto's thyroiditis (HT) at various functional stages of the disease. METHODS: Of the 77 patients with HT who were included in our study, 28 had been euthyroid, 20 had had subclinical hypothyroidism, and 29 had had clinical hypothyroidism. Of those with clinical hypothyroidism, 6 had been untreated and 23 had been receiving L-thyroxine substitution therapy. Fifty volunteers without thyroid disease served as a control group. Thyroid echogenicity was evaluated by computerized gray-scale sonography as mean tissue density (MTD) +/- standard deviation; the echogenicity of the prethyroid muscles served as a control of the system variability. RESULTS: The MTD was significantly lower for the patients with HT (15.9 +/- 4) than for the control subjects (24.3 +/- 3; p < 0.05). Moreover, a significant difference was found between the MTD values of euthyroid patients with HT (18.9 +/- 3.4) and hypothyroid patients with HT analyzed either as a group (14.3 +/- 3.8) or separately for subclinical hypothyroidism (14.9 +/- 3.8) and clinical hypothyroidism (13.9 +/- 3.7; p < 0.05). The lowest MTD was found in patients with untreated clinical hypothyroidism (11.1 +/- 4.3), with a significant difference (p < 0.05) compared to all other groups of patients. Untreated patients with clinical hypothyroidism also showed the highest mean anti-thyroid peroxidase autoantibody levels (1,286 +/- 177 IU/ml versus 570 +/- 489 IU/ml for L-thyroxine-treated patients; p < 0.05), although no correlation between the MTD values and anti-thyroid peroxidase autoantibody levels was found in any group of patients. CONCLUSIONS: Computerized gray-scale sonography provides an objective measure of thyroid hypoechogenicity, which correlates well to the clinical stages of HT. Use of this modality may prove beneficial in the diagnosis and follow-up of patients with HT.     

Intrathyroidal thymic tissue mimicking a thyroid nodule in a 4‐year‐old child

A 4 year‐old girl was referred for CT of her neck for suspected submental lymphadenopathy and was found to have an incidental low‐attenuation thyroid mass. Subsequent thyroid ultrasound showed a heterogeneous thyroid mass with punctate areas of increased echogenicity. Cytologic examination was consistent with ectopic intrathyroidal thymic nodule. We review the presentation of ectopic thymic tissue, especially in the thyroid gland. © 2012 Wiley Periodicals, Inc. J Clin Ultrasound, 41:319–320, 2013     

Sonographic findings in ectopic cervical thymus in an infant.

We present the case of a 28-day-old boy with ectopic thymic tissue in the neck. Sonography showed a well-delineated, homogeneous lesion in the left submandibular region that was isoechoic relative to the mediastinal thymus. The lesion had angular margins and lacked a mass effect despite its large size (3 x 2 cm). On power Doppler imaging, arteries with an intermediate-impedance flow pattern were seen entering the lesion from the inferior and lateral margins. On both T1- and T2-weighted MR images, the lesion was isointense relative to the mediastinal thymus and had higher and lower signal intensity than muscle and fat, respectively. A sonographically guided needle biopsy confirmed the diagnosis of ectopic thymus.     

Analysis of the thymus in 151 healthy infants from 0 to 2 years of age.

OBJECTIVE: A prospective sonographic study of the normal thymus was performed to determine the size changes with age and to compare the results according to some clinical conditions, such as sex, breast versus formula feeding, and term or preterm status. METHODS: One hundred fifty-one healthy infants underwent thymic sonography. Maximal transverse and longitudinal dimensions and anteroposterior dimensions of the right and left lobes were measured, and thymic indices were calculated. Mean values of thymic measurements for each group (sex, age, breast or formula feeding, and term or preterm status) were determined. The results were statistically evaluated. RESULTS: Thymic dimensions showed the maximal values at about 4 to 6 months and gradually decreased after 6 to 8 months. No significant differences were found between mean values of thymic dimensions according to the sex and formula- versus breast-fed groups. As expected, the term group had greater thymic size values than the preterm group, probably because of positive correlations between thymus size, birth weight, and height. CONCLUSIONS: The thymus is clearly and easily visualized on sonography in the 0- to 2-year age period. This may be useful for evaluating qualitative and quantitative properties of the thymus and determining size changes according to age in various clinical conditions.     

Color Doppler sonography in hypothyroidism

BACKGROUND: The value of color Doppler sonography in thyroid disease continues to be a matter of debate. Over the past few years, several studies have proved unable to yield unequivocal results. Only a few studies concerning color Doppler sonography in patients with hypothyroidism have been published. METHODS: 89 patients with hypothyroidism have been evaluated. They were examined clinically; laboratory tests on thyroid function and color Doppler sonography have been performed. The color flow distribution and intensity were estimated and the fastest flow velocity (PSV) detectable with a pw-doppler was registered. The color pattern was graded from 0 to III as has been described by others and the color Doppler findings were then correlated to both the clinical picture and the laboratory results. RESULTS: 56 of the 89 hypothyroid patients showed pattern 0 with a PSV of 22 cm/s. In 33 patients different degrees of increased parenchymal color could be found with a concordant PSV: 16 patients showed pattern I with a PSV of 39 cm/s; 11 showed pattern II with PSV 58 cm/s, and 6 showed pattern III with PSV 63 cm/s. Regarding the corresponding clinical and laboratory variables, there was a very close correlation between color intensity and anti-Tg/anti-TPO antibody levels: pattern 0: anti-Tg 474 IU/ml, anti-TPO-Ab 810 IU/ml; pattern I: 1053/1733; pattern II: 1774/2432; pattern III: 1951/2633. Some correlation could also be found for the TSH values and the calculated volume of the thyroid gland, whereas the duration of hypothyroidism showed an inverse correlation to color intensity. (Pattern 0: TSH 3.1 mE/ml, volume 9.2 ml, duration 43 months; pattern I: 4.2 mE/l, 15.7 ml, 24 mos.; pattern II: 11.5 mE/l, 22.3 ml, 16 mos.; pattern III: 38.2 mE/l, 34.3 ml, 10 mos, respectively). CONCLUSIONS: The color Doppler pattern of intense hypervascularization of the thyroid gland formerly attributed only to the hyperthyroid state of active Graves' Disease can also be seen in hypothyroidism. Our data support the concept that the color flow appearance is not the result of stimulated thyroid hormone production, but a measure of the activity of an autoimmune process.     

Neonatal transient hypothyroidism]

Neonatal screening for congenital hypothyroidism can detect permanent and transient hypothyroidism. The latter condition is called neonatal transient hypothyroidism. This may result from various causes, but, especially, it should be suspected whenever there is a history of maternal autoimmune thyroid disease, including Hashimoto thyroiditis, Graves disease, hypothyroidism on replacement therapy, or recurrent congenital hypothyroidism of a transient nature in subsequent siblings. Transplacental TSH-receptor antibodies may affect fetal or neonatal thyroid function. Although thyroid dysfunction may be transitory, long-term follow-up is desirable.     

新生儿先天性甲状腺功能减低症的影响因素分析

目的 分析新生儿先天性甲状腺功能减低症(简称先天性甲低)的影响因素.方法 选择75例确诊为先天性甲低的新生儿为病例组,同时纳入健康新生儿125例作为对照组.对两组新生儿及产妇的临床资料进行问卷调查,采用单因素分析、多因素Logistic回归分析探究新生儿先天性甲低的影响因素.结果 多因素Logistic回归分析结果显示...     

Rebound thymic enlargement on CT in adults

The objective of this study is to report the development of thymic enlargement in adults, mainly associated with chemotherapy for malignancy. The typical CT features of this phenomenon are described. The clinical data and CT studies of 13 adult patients with newly appearing thymic enlargement on CT were reviewed. These patients were followed-up mainly for malignancy. Further follow-up CTs were studied when available. Medical records were reviewed as to the primary disease, its medical treatment and the time of initial appearance of the enlarged thymus in relation to treatment. The study group included 13 adult patients, 12 with malignant disease and one with a slowly resolving pneumonia. The enlarged thymus appeared as a triangular, arrowhead-shaped structure, with a bilobed configuration and convex borders. Density measurements were consistent with homogeneous soft tissue. Location was in the anterior mediastinum, in the normal site of the thymus. In nine patients, follow-up studies were available. The observation period ranged from 5 months to 8 years from the initial appearance of the enlarged thymus. In five of the nine patients, the thymic enlargement resolved after 1-4.5 years. In four of the nine patients, the thymus remained enlarged during a follow-up ranging from 5 months to 2.5 years. Thymic enlargement, while a rare phenomenon in adults, may occur, mainly after chemotherapy. This phenomenon should be included in the differential diagnosis of a soft tissue mass appearing in the anterior mediastinum on follow-up CT in adult patients particularly following treatment for malignancy.     

新生儿胸腺的声像图表现及正常值研究

目的探讨正常新生儿胸腺的超声表现、正常值范围及其临床意义。方法连续观察230例正常足月儿及144例早产儿，高频微凸探头经胸骨进行胸腺扫查。显示最大横断面且左右叶外缘边界清晰时，冻结图像测量两外缘间距离作为胸腺最大横径。在此断面上垂直旋转探头，分别显示左右叶最大矢状断面时，测量胸腺上下两极间的距离为最大长径。超声测量胸腺的同时记录新生儿出生体质量。保持仪器设置不变，观察并记录经胸骨上窝扫查胸腺的声像图特点与同一新生儿甲状腺进行比较。结果经胸骨扫查，374例新生儿胸腺显示清晰，最大横径测量成功率为91．4％（342／374）。胸腺最大横径与出生体质量相关（r=0．605，P=0．000），足月儿与早产儿胸腺平均最大横径间有显著性差异（P=0．002）。经胸骨上窝扫查，胸腺内部回声略低于甲状腺，实质内可见特征性的细线状及点状强回声。结论新生儿胸腺各径线超声测值变化范围较大。胸腺超声正常值研究结合其较有特征性的实质回声特点，有助于超声对胸腺疾病的诊断及鉴别诊断。     

Natural evolution of thyrotropin and thyroid hormones concentrations in hypothyroid newborns with thyroid agenesis or ectopy during the first month of life

Thyroid hormones and thyrotropin concentrations obtained by different screening programs at different times after birth were pooled to study their natural evolution in congenitally hypothyroid newborns with thyroid ectopy or agenesis. In filter paper blood spots, the T4 concentrations were higher in the group with thyroid ectopy whereas it was the opposite for the TSH values. Serum T4 decreased progressively in cases of thyroid agenesis. In ectopy, serum T4 remained stable after 2 weeks whereas the T3 concentration increased into the normal range. Thus, even at five weeks of age, the T4 levels of infants with ectopic thyroid are still in the hypothyroid range despite thyrotropin overstimulation.     

A case of dual ectopic thyroid accompanied by positive antithyroid antibodies

Ectopic thyroid tissue is an uncommon congenital aberration that is seldom present at two different sites simultaneously. The patient was a 32-year-old woman with dual ectopic thyroid accompanied by positive antithyroid antibodies. The simultaneous occurrence of dual ectopic thyroid and positive antithyroid antibodies has been documented in only two cases: the case discussed here and one previous case. The cervical ectopic thyroid was followed up by ultrasound, which showed an increase in the size of the lesion and an internal echo texture that became slightly heterogeneous after the patient had her second child. We speculated that these changes resulted from the changes in hormone demand brought on by pregnancy and parturition.     

Detection and diagnosis of parathyroid incidentalomas during thyroid sonography.

PURPOSE: The aim of our study was to evaluate the incidence of incidentally found parathyroid adenomas (incidentalomas) in patients undergoing sonography of the neck for thyroid disease. METHODS: A total of 1,686 patients (305 men and 1,381 women) underwent sonography of the neck; the mean age was 49.6 +/- 21.7 years. In 38 patients (2.3%; 7 men and 31 women) with a mean age of 48.7 +/- 14.7 years, hypoechoic, homogeneous, oval nodules (mean volume, 1.0 +/- 0. 9 cm(3)) adjacent to the thyroid parenchyma were observed. All these lesions, compatible with the shape of an enlarged parathyroid gland, underwent ultrasound-guided fine-needle aspiration biopsy (FNAB), with measurement of parathyroid hormone (PTH) and thyroglobulin (Tg) levels in the needle washings (FNAB-PTH and FNAB-Tg). Biochemical screening for hyperparathyroidism was also performed. RESULTS: Cytologic examination plus FNAB-PTH/FNAB-Tg measurements revealed the presence of cellular material consistent with parathyroid tissue in 9 patients (24%), thyroid tissue in 22 patients (58%), and lymphoid tissue in 4 patients (11%). A tissue diagnosis was not established in 3 patients (8%). Five of 9 patients with parathyroid enlargement had high serum PTH and calcium levels. CONCLUSIONS: Enlarged parathyroid glands may be incidentally discovered during sonography of the thyroid. In patients with thyroid disease, the positive-predictive value of sonography in the identification of parathyroid tissue was low. Ultrasound-guided FNAB-PTH determination should be carried out when parathyroid adenoma is suspected. The incidental finding of an enlarged parathyroid may or may not be associated with yet undiagnosed hyperparathyroidism.     

Diagnosis and treatment of hypothyroidism in children

Congenital hypothyroidism is a relatively common endocrine disorder, affecting one in 4000 newborn infants. Undiagnosed and untreated congenital hypothyroidism will result in un-toward consequences, including mental retardation and other significant neurologic sequelae. For these reasons, programs to screen newborns were developed to detect congenital hypothyroidism before clinical features become obvious enough to suggest the diagnosis. The most common clinical features include prolonged jaundice, skin mottling, hypotonia, umbilical hernia, constipation, and macroglossia. Congenital hypothyroidism may be caused by several different disorders; ectopic thyroid glands represent the most common cause. There is accumulating evidence that autoimmune thyroid disease as manifested by TBII may be the cause of thyroid dysgenesis in some cases. The diagnosis is easily confirmed by finding a low serum free T4 or total T4 and elevated serum TSH concentration. The treatment of choice is levothyroxine; these infants must be followed carefully to ensure normal growth and development and maintenance of serum T4 and TSH within the normal ranges. With appropriate treatment and follow-up, the large majority of these infants have an excellent prognosis, with an IQ no different from comparison populations. However, it appears that there is still a small percentage of infants who are the most severely affected, who manifest the lowest serum T4 levels, thyroid aplasia, and retarded bone ages, and who may run the highest risk for some degree of retardation and other neurologic sequelae. Acquired hypothyroidism is also a relatively common disorder, occurring in one in 500 to one in 1000 school-age children. These children most commonly have a slowdown in growth, short stature, a goiter, and a drop in school performance. Other clinical features may be subtle or absent except in more severe or long-standing cases. The most common cause is chronic lymphocytic thyroiditis. The diagnosis is easily established by finding low serum-free T4 or total T4 and elevated serum TSH concentrations. Again, levothyroxine is the treatment of choice. With appropriate treatment and follow-up, all clinical features that develop after age 3 should be reversible and the prognosis should therefore be very good.     

彩色多普勒超声在甲状腺功能亢进与亚临床甲状腺功能低下诊断与鉴别诊断中的应用

目的：探讨彩色多普勒超声在甲状腺功能亢进（甲亢）与亚临床甲状腺功能低下（亚甲低）鉴别诊断中的价值。方法：对经临床及实验室检查确诊的23例甲亢,22例亚甲低患者甲状腺二级及彩色多普勒超声表现及甲状腺上动脉血流参数（Vmax、Vmin和RI）进行观察分析,并与正常组进行对照。结果：甲亢组与亚甲低组甲状腺体积均不同的程度增大,内部回声增粗,甲状腺内血流信号明显增多;甲状腺上动脉Vmax、Vmin均高于正常组（P＜0．01）,且甲亢组明显高于亚甲低组（P＜0．1,P＜0．05）;RI两组间比较及与正常组比较均无显著性差异（P＞0．05）。结论：甲亢和亚甲低的二维及彩色声像图表现极为相似,难以对两病作出鉴别诊断;甲状腺上动脉血流Vmax、Vmin的变化,可作为二者诊断与鉴别诊断的参考依据。     

Failed first trimester pregnancy termination: uterine anomaly as etiologic factor

Failure of first trimester pregnancy termination is an uncommon, although potentially serious complication of attempted therapeutic abortion. We report our experience in four patients with unsuspected congenital uterine anomalies in whom attempted pregnancy termination procedures failed to completely ablate the products of conception. When dilatation and curettage fails to produce embryonic tissue, sonography is indicated to exclude ectopic gestation or uterine anomaly. In patients who are known to have anomalous uteri, intraoperative real-time guidance may increase the success of pregnancy termination procedures and decrease the incidence of retained products of conception.     

Incidence and predictability of amiodarone-induced thyrotoxicosis and hypothyroidism

OBJECTIVES: To determine the incidence and predictability of amiodarone-induced thyrotoxicosis (AIT) and hypothyroidism (AIH) in patients with cardiomyopathy. PATIENTS AND METHODS: A total of 72 patients (mean age 69 +/- 11 years) living in an area previously endemic for thyroid disease but with currently sufficient iodine intake were enrolled in this prospective study. All participants were treated with amiodarone for the first time. The course of thyroid function in patients with normal thyroid morphology and in those with goiter was monitored over a median follow-up period of eight months in 71 (98.6%) patients. RESULTS: Of 72 participants, 18 (25.0%) had a morphologically normal thyroid gland as evidenced by sonography. The prevalence of thyroid dysfunction before initiation of amiodarone was 37.6% (27 of 72) with almost equal distribution between hypothyroidism and hyperthyroidism (14 and 13 patients). After treatment with amiodarone, thyroid dysfunction was diagnosed in 56.8% (25 of 44) of the patients without preexisting dysfunction. Of these 25 patients, nine (36%) developed either subclinical or overt AIH and 16 (64.0%) developed either subclinical or overt AIT. Although 61.1% (44 of 72) had normal thyroid function before initiation of amiodarone, this number decreased to 26.7% (19 of 71, P < 0.001) after treatment. Factors such as (99m)Tc-pertechnetate scan uptake, thyroid autoimmunity, age, thyroid autonomy or abnormal thyroid morphology were not significantly associated with the development of thyroid dysfunction. CONCLUSIONS: Prevalence of thyroid dysfunction was high in elderly patients treated with amiodarone. Cases of AIT and AIH occurred in patients with and without preexisting thyroid disorders. Because of the high incidence of amiodarone-induced thyroid dysfunction, regular testing of thyroid function is mandatory during and following amiodarone treatment.