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  • NLM标题： Clin Pediatr Endocrinol
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共320条结果
  • 1.

    【2hr】A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)

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    机译 青年型5型糖尿病（MODY5）的HNF1B新型突变一例。
    摘要：
  • 2.

    【2hr】Favorable Impacts of Growth Hormone (GH) Replacement Therapy on AtherogenicRisks in Japanese Children with GH Deficiency

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    机译 生长激素（GH）替代疗法对致动脉粥样硬化的有利影响日本GH缺乏儿童的风险
    摘要：Growth hormone (GH) affects body composition and atherogenic risk factors. Severe hyperlipidemia may develop in GH-deficient adults as a consequence of continuous GH deficiency. We investigated changes in lipid profiles in 158 Japanese children (103 boys and 55 girls) with GH deficiency who had been enrolled in the Pfizer International Growth Database Japan during 3 yr of GH replacement therapy to evaluate whether GH treatment has beneficial effects on atherogenic risk factors. Total cholesterol (TC), high-density lipoprotein cholesterol (HDLC), low-density lipoprotein cholesterol (LDLC) and atherogenic index were evaluated before treatment and then once a year during treatment. The mean baseline TC was within the normal range in both boys and girls. Seventeen (16.5%) of the 103 boys and 18 (32.7%) of the 55 girls, however, had a TC level over 200 mg/dl before treatment. The mean TC level showed a significant decrease in girls. In a separate analysis, patients of both sexes with a TC level > 200 mg/dl showed significantly decreased TC. LDLC decreased significantly only in girls, while HDLC showed no change in either sex. The atherogenic index decreased significantly in girls. GH replacement therapy in children with GH deficiency had beneficial effects on lipid metabolism and atherogenic risk in both sexes. Early GH treatment would produce lipid metabolism benefits in these patients.
  • 3.

    【2hr】An Infantile Case of Transient, Severe Hypercholesterolemia with Normalization after CompleteWeaning from Breast-feeding

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    机译 暂时性，重度高胆固醇血症的小儿病例，完成后恢复正常断奶从母乳喂养
    摘要：A 20-d-old boy was referred to our department because of hyperthyrotropinemia at neonatal mass screening and diagnosed with neonatal transient hyperthyrotropinemia. A follow-up examination when the patient was 5 mo old revealed severe hypercholesterolemia. Familial hypercholesterolemia was first suspected because of the patient’s significantly high levels of total and low-density lipoprotein cholesterol. The parent’s serum lipid profiles were examined and found to be normal. He was completely breast-fed until 6 mo of age. Breast milk was still the main source of food for a period following weaning. At 14 mo old, the patient was weaned completely from breast milk, and his serum cholesterol levels decreased dramatically. According to the normal lipid profiles of the patient’s parents and the spontaneous normalization of serum cholesterol levels after complete weaning from breast milk, breast-feeding was suggested to be responsible for his transient severe hypercholesterolemia. It is well documented that breast-fed infants have higher serum cholesterol levels than formula-fed infants. However, there is no reported case with severe hypercholesterolemia equivalent to or higher than the levels observed in the case of familial hypercholesterolemia. Although the exact mechanism is unknown, it is necessary to consider that a small number of cases develop severe hypercholesterolemia related to breast-feeding.
  • 4.

    【2hr】Favorable Impact of Growth Hormone Treatment on Cholesterol Levels in TurnerSyndrome

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    机译 生长激素治疗对特纳地区胆固醇水平的有利影响综合症
    摘要：Background: Patients with Turner syndrome (TS) are prone to having metabolic abnormalities, such as obesity, dyslipidemia, hypertension, hyperinsulinemia and type 2 diabetes mellitus, resulting in increased risks of developing atherosclerotic diseases. Objective: To determine the effect of growth hormone (GH) therapy on serum cholesterol levels in prepubertal girls with TS enrolled in the Turner syndrome Research Collaboration (TRC) in Japan. Patients and methods: Eighty-one girls with TS were enrolled in the TRC, and their total cholesterol (TC) levels before GH therapy were compared with reported levels of healthy school-aged Japanese girls. TC levels after 1, 2 and 3 yr of GH treatment were available for 28 of the 81 patients with TS. GH was administered by daily subcutaneous injections, 6 or 7 times/wk, with a weekly dose of 0.35 mg/kg body weight. Results: Baseline TC levels revealed an age-related increase in TS that was in contrast to healthy girls showing unchanged levels. During GH therapy, TC decreased significantly after 1 yr of GH treatment and remained low thereafter. Conclusions: Girls with untreated TS showed an age-related increase in TC that was a striking contrast to healthy girls, who showed unchanged levels. GH therapy in girls with TS brought about a favorable change in TC that indicates the beneficial impact of GH on atherogenic risk.
  • 5.

    【2hr】Combined Treatment with Gonadotropin-releasing Hormone Analog and AnabolicSteroid Hormone Increased Pubertal Height Gain and Adult Height in Boys with Early Pubertyfor Height

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    机译 促性腺激素释放激素类似物和合成代谢的联合治疗类固醇激素增加青春期早期男孩的青春期身高增加和成人身高高度
    摘要：Twenty-one boys with a height of 135 cm or less at onset of puberty were treated with a combination of GnRH analog and anabolic steroid hormone, and their pubertal height gain and adult height were compared with those of untreated 29 boys who enter puberty below 135 cm. The mean age at the start of treatment with a GnRH analog, leuprorelin acetate depot (Leuplin®) was 12.3 yr, a mean of 1.3 yr after the onset of puberty, and GnRH analog was administered every 3 to 5 wk thereafter for a mean duration of 4.1 yr. The anabolic steroid hormone was started approximately 1 yr after initiation of treatment with the GnRH analog. The mean pubertal height gain from onset of puberty till adult height was significantly greater in the combination treatment group (33.9 cm) than in the untreated group (26.4 cm) (p<0.0001). The mean adult height was significantly greater in the combination treatment group (164.3 cm) than in the untreated group (156.9 cm) (p<0.0001). The percentage of subjects with an adult height of 160 cm or taller was 90.5% (19/21) in the combination treatment group, and it was 13.8% (4/29) in the untreated group (p<0.0001). Since growth of the penis and pubic hair is promoted by the anabolic steroid hormone, no psychosocial problems arose because of delayed puberty. No clinically significant adverse events appeared. Combined treatment with GnRH analog and anabolic steroid hormone significantly increased height gain during puberty and adult height inboys who entered puberty with a short stature, since the period until epiphyseal closurewas extended due to deceleration of the bone age maturation by administration of the GnRHanalog and the growth rate at this time was maintained by the anabolic steroidhormone.
  • 6.

    【2hr】Acquired Cryptorchidism in a Boy with Disorder of SexDevelopment

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    机译 性障碍男孩的后天隐睾症发展历程
    摘要：Recently, it has been reported that boys with severe hypospadias are at increased risk for acquired cryptorchidism. The reports suggested that prenatal and postnatal androgen disruption might be correlated with this condition. We experienced a case of ovotesticular disorder of sex development (DSD), which was ultimately diagnosed at surgery for acquired cryptorchidism. Ascent of the scrotal contents of the left side was detected in a 7-yr-old boy with the 46, XX karyotype, who had a history of perineal hypospadias repair. Intraoperative findings revealed the left gonad consisted of 2 segments, and this was histologically diagnosed as ovotestis by biopsy specimen. Resection of the ovarian segment was performed simultaneously. Exploration of the contralateral gonad showed the same findings. This is the first report of acquired cryptorchidism observed in a patient with DSD presenting with ambiguous genitalia.
  • 7.

    【2hr】Familial Hyperkalemic Hypertension: A New Early-onset PediatricCase

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    机译 家族性高钾血症高血压：一种新的早发儿科案件
    • 作者：Ivana Pela
    • 刊名：Clinical Pediatric Endocrinology
    • 2012年第1期
    摘要：
  • 8.

    【2hr】A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of TheAAAS Gene

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    机译 新型IVS7 +1 G> A突变的Allgrove综合征1例。AAAS基因
    摘要：
  • 9.

    【2hr】Role of Counterregulatory Hormones for Glucose Metabolism in Children andAdolescents with Type 1 Diabetes

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    机译 反调节激素对儿童和儿童葡萄糖代谢的作用1型糖尿病青少年
    摘要：To elucidate the mechanism of insulin resistance due to insulin counterregulatory hormones (ICRHs) and evaluate ICRH secretion kinetics, ICRH concentrations were measured and correlated with blood glucose levels in 28 type 1 diabetic patients. Blood glucose was measured before bedtime. Early morning urine samples were collected the next morning before insulin injection and breakfast. Fasting blood glucose, cortisol, glucagon and HbA1c levels were measured. Growth hormone (GH), adrenaline, cortisol and C-peptide levels in morning urine samples were measured; SD scores were calculated for urine GH. The laboratory values (mean ± SD) were as follows; HbA1c of 8.1% ± 1.4%; pre-bedtime glucose of 203 ± 105 mg/dl; fasting blood glucose of 145 ± 87 mg/dl; serum cortisol of 21.6 ± 5.5 µg/dl; plasma glucagon of 98 ± 41 pg/ml; urinary GH, 27.2 ± 13.0 ng/gCr; urinary cortisol of 238 ± 197 ng/gCr; and urinary Adrenaline of 22.9 ± 21.0 ng/gCr. The mean urinary GH SD score was increased (+1.01 ± 0.70; p=0.000); the mean plasma glucagon lebel (98 ± 41 pg/ml) was not. Fasting blood glucose was positively correlated with plasma glucagon (R=0.378, p=0.0471) and negatively correlated with urinary cortisol (R=–0.476, p=0.010). Urinary adrenaline correlated positively with urinary GH (R=0.470, p=0.013) and urinary cortisol (R=0.522, p=0.004). In type 1 diabetes, GH, glucagon and cortisol hypersecretion may contribute to insulin resistance, but the mechanism remains unclear.
  • 10.

    【2hr】Premature Thelarche in Later Childhood Demonstrates a Pubertal Response toGnRH Stimulation Test at One Year after Breast Development

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    机译 幼年期早产的Thelarche表现出青春期对乳房发育一年后的GnRH刺激测试
    • 作者：Satoshi Takakuwa
    • 刊名：Clinical Pediatric Endocrinology
    • 2011年第4期
    摘要：Premature thelarche in later childhood (such as at 5–7 yr of age) is not always easy to distinguish from GnRH-dependent precocious puberty. In this study, a GnRH stimulation test was performed on 21 girls from 5 to 7.5 yr of age with early breast development. In 8 of 11 girls within 1 yr after thelarche, i.e., breast development, the GnRH stimulation test showed a prepubertal response, and in all 10 girls at more than 1 yr after breast development, the GnRH stimulation test showed a pubertal response. In observations of 4 girls with a prepubertal response, the GnRH stimulation test showed to a pubertal response by 1 yr or more after breast development in 3 of 4 the girls. These results indicate the possibility that almost all cases of breast development in later childhood consist of premature thelarche and that premature thelarche in later childhood may easily lead to early puberty at 1 yr or more after breast development. Careful observations are therefore recommended for at least 1 yr, even if early breast development is considered to be associated with premature thelarche in later childhood.
  • 11.

    【2hr】Diagnostic Usefulness of 3 Tesla MRI of the Brain for Cushing Disease in aChild

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    机译 3特斯拉脑部MRI对库欣病的诊断价值儿童
    摘要：It is sometimes difficult to confirm the location of a microadenoma in Cushing disease. Recently, we experienced an 11-yr-old female case of Cushing disease with hyperprolactinemia. She was referred to our hospital because of decrease of height velocity with body weight gain. On admission, she had typical symptoms of Cushing syndrome. Although no pituitary microadenomas were detected on 1.5 Tesla MRI of the brain, endocrinological examinations including IPS and CS sampling were consistent with Cushing disease with hyperprolactinemia. Oral administration of methyrapone instead of neurosurgery was started after discharge, but subsequent 3 Tesla MRI of the brain clearly demonstrated a 3-mm less-enhanced lesion in the left side of the pituitary gland. Finally, transsphenoidal surgery was performed, and a 3.5-mm left-sided microadenoma was resected. Compared with 1.5 Tesla MRI, 3 Tesla MRI offers the advantage of a higher signal to noise ratio (SNR), which provides higher resolution and proper image quality. Therefore, 3 Tesla MRI is a very useful tool to localize microadenomas in Cushing disease in children as well as in adults. It will be the first choice of radiological examinations in suspected cases of Cushing disease.
  • 12.

    【2hr】Fabry Disease Superimposed on Overt Autoimmune Hypothyroidism

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    机译 法布里氏病叠加在明显的自身免疫性甲状腺功能低下
    摘要：Fabry disease (FD) is an X-linked recessive disorder caused by lysosomal α-galactosidase A deficiency. FD is characterized by the systemic accumulation of globotriaosylceramide with involvement of the heart, kidney, brain and gastrointestinal system. Recently, nonautoimmune thyroid dysfunction was recognized as an additional clinical feature of FD. In the present study, we describe a patient suffering from FD superimposed on overt autoimmune hypothyroidism. The patient was an 11-yr-old boy who presented with goiter and stunted growth, and was diagnosed with primary hypothyroidism due to autoimmune thyroiditis. During levothyroxine replacement therapy, the patient complained of burning pain in his feet and was diagnosed as suffering from FD based on low blood α-galactosidase A activity. In conclusion, we have described the first FD patient preceded by overt autoimmune hypothyroidism.
  • 13.

    【2hr】Treatment of Hypothyroidism due to Iodine Deficiency Using Daily Powdered Kelp in PatientsReceiving Long-term Total Enteral Nutrition

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    机译 每日服用海带粉治疗碘缺乏症引起的甲状腺功能减退接受长期总肠内营养
    摘要：We investigated thyroid function and urinary iodine concentration (UIC) in seven patients with severe motor intellectual disabilities. All seven received total enteral nutrition (TEN) for more than three years with a daily iodine intake of less than 20 µg. They were diagnosed as hypothyroidism due to iodine deficiency (HID) because of high TSH levels (7.6–82.3 µIU/ml), lower free T4 (FT4 0.4–1.5 ng/dl), negative anti-thyroid antibodies (anti-thyroglobulin antibody, anti-thyroidal peroxidase antibody) and extremely low UIC (<25–58 µg/l) levels. We gave them 1–2 g powdered kelp (200–400 µg as iodine) once a day, which restored their thyroid function and normalized their UICs. We proposed that daily powdered kelp would be effective and safe to treat HID in patient receiving long term TEN.
  • 14.

    【2hr】An Unusual Presentation of Addison’s Disease—A Case Report

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    机译 艾迪生病的异常表现-病例报告
    摘要：Addison’s disease is most commonly due to autoimmune adrenalitis and tuberculosis and refers to primary hypoadrenalism caused by a total or near total destruction or dysfunction of both adrenal cortices. Usual manifestations involve chronic fatigue, muscle weakness, loss of appetite, nausea, vomiting, diarrhea, hypotension and hyperpigmentation of skin. We herein report a case of primary adrenal insufficiency presenting with fever and seizures in an 11-yr-old boy. His symptoms resolved after starting specific therapy. This kind of presentation of Addison’s disease is rather unusual.
  • 15.

    【2hr】Thymic Hyperplasia Associated with Graves’ Disease in a 10-year-oldBoy

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    机译 与10岁的Graves病相关的胸腺增生男孩
    摘要：Thymic hyperplasia associated with Graves’ disease is rarely reported in children, although it is not uncommon in adults. Occasionally, an enlarged thymus presents as an anterior mediastinal mass on a radiographic examination. Such patients often undergo invasive procedures such as a thymus biopsy or thymectomy because of suspected malignancy. However, an enlarged thymus with Graves’ disease is known to shrink after treatment with antithyroid drugs. Therefore, recognition of this benign course would avoid unnecessary surgical resection. This report presents the case of a 10-yr-old boy with Graves’ disease complicated with an anterior mediastinal mass. Computed tomography showed a homogenous mass with no invasion into the surrounding tissue. A gallium-67 scintigraphy showed no abnormal uptake. Shrinkage of the mass after treatment with an antithyroid drug (methyl-mercaptoimidazole) supported the diagnosis of thymic hyperplasia with Graves’ disease. This case report illustrates two important points. First, pediatricians should be aware that thymic hyperplasia can coexist with Graves’ disease, even in children. Second, close radiographic assessment would support a diagnosis of thymic hyperplasia and eliminate invasive diagnostic procedures.
  • 16.

    【2hr】A Male Patient with Humoral Hypercalcemia of Malignancy (HHM) withLeukocytosis Caused by Cutaneous Squamous Cell Carcinoma Resulting from RecessiveDystrophic Epidermolysis Bullosa

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    机译 一名患有恶性肿瘤的体液性高钙血症（HHM）的男性患者隐性皮肤鳞状细胞癌引起的白细胞增多营养不良性表皮松解症
    摘要：Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin disorder. Although the patients are at risk for cutaneous squamous cell carcinoma (SCC), no case of cutaneous SCC derived from RDEB with humoral hypercalcemia of malignancy (HHM) has been reported. We present the first case report of a male patient with HHM with leukocytosis caused by cutaneous SCC resulting from RDEB. A 20-yr-old Japanese male patient with RDEB; the diagnosis was confirmed by electron microscopic examination, suffered an intractable skin ulcer and hypercalcemia and leukocytosis. PTH-rP, SCC antigen and Granulocyte colony-stimulating factor (G-CSF) levels were elevated. The histological diagnosis of the skin lesion was made well-differentiated SCC. Immunohistochemical staining showed the expression of PTH-rP in atypical tumor cells. For the control of hypercalcemia before an amputation, we used zoledronate safely and could control the serum Ca concentration in the normal range. After the amputation of his right leg including SCC, leukocytosis improved immediately and PTH-rP in blood decreased to the normal range. One month after the amputation, local recurrence of cutaneous SCC and multiple lung metastases were observed. PTH-rP increased gradually associated with hypercalcemia. Although the patient reached an unfortunate turning point about 4 mo after the amputation, we propose that zoledronate is an effective and safe treatment for HHM with cardiorenal complications.
  • 17.

    【2hr】Insulin Resistance during Puberty in Non-obese Japanese Children

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    机译 非肥胖日本儿童青春期的胰岛素抵抗
    摘要：We examined whether non-obese Japanese children without diabetes exhibited insulin resistance during puberty. The study subjects were 201 Japanese school students, consisting 95 males and 106 females, aged 11.5 ± 2.6 yr. None of the subjects were obese, with the mean percent of overweight being 0.7 ± 10.5%, or had diabetes at the time of the study. Overnight fasting plasma values of insulin (FIRI) and HOMA-R were measured, with concomitant measurement of the plasma glucose (FPG) levels. The mean FPG, FIRI and HOMA-R values were 89.6 ± 7.3 (70–109) mg/dl, 9.0 ± 3.6 (1.7–24.4) µU/ml and 2.0 ± 0.9 (0.3–5.2), respectively. The mean FIRI value was significantly higher in females than in males (8.3 ± 3.4 vs. 9.6 ± 3.7 µU/ml, p=0.0060). The FIRI and HOMA-R values of the pubertal students were significantly higher compared with those of the prepubertal students (FIRI, 10.0 ± 3.4 vs. 6.5 ± 2.8 µU/ml; HOMA-R, 2.3 ± 0.8 vs. 1.4 ± 0.7; p<0.0001 for both). Similar trends were observed between the two genders. The mean FIRI levels and HOMA-R values were positively correlated with age (FIRI, r=0.280, p<0.0001; HOMA-R, r=0.300, p<0.0001). In conclusion, we demonstrated that the FIRI and HOMA-R values were significantly associated with pubertal development in non-obese Japanese children without diabetes, consistent with the results of studies in white and black children.
  • 18.

    【2hr】Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association withHyperparathyroidism

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    机译 患有黏液脂缺乏症II的婴儿患者的骨周转率升高;没有关联甲状旁腺功能亢进
    摘要：This present report concerns an infantile patient with mucolipidosis II, who showed transient cortical bone hyperostosis followed by severe osteopenia. The diagnosis of mucolipidosis II was made based on the leakage of lysosomal enzymes in serum and conditioned media of the patient's skin fibroblasts, low activity of lysosomal enzymes of the fibroblasts and mutation of c.2086_2089insC (p.L697fs) and c.3565C>T (p.R1189X) in the GNPTAB gene. Bone X-ray analysis demonstrated a periosteal reaction and elevated bone resorption at the age of 2 mo. Bone markers, including alkaline phosphatase, osteocalcin and urine deoxypyridinoline, also indicated a high turnover of bone metabolism; however, no apparent rickets-like changes and no increased levels of PTH were observed. Elevated bone resorption is possibly associated with the leakage of lysosomal enzyme from osteoclasts into bone matrices. Bone formation gradually reduced, and increased bone resorption persisted. This led to severe osteopenia at the age of 6 mo. Characteristic bone findings may contribute to early diagnosis of mucolipidosis II, but their pathogenesis remains to be clarified.
  • 19.

    【2hr】The Relationship between Preheparin Lipoprotein Lipase and Metabolic Derangements in ObeseJapanese Children

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    机译 肥胖前肝素脂蛋白脂酶与代谢紊乱的关系日本儿童
    摘要：The aim of this study was to clarify the relationship between preheparin lipoprotein lipase (LPL) and derangements of metabolic status in obese Japanese children. We examined 102 obese children (55 boys and 47 girls; mean age 10.9 yr). Anthropometry, blood pressure and levels of liver transaminases, serum lipids and lipoproteins, uric acid, fasting blood glucose (FBG), serum insulin, LPL, leptin and adiponectin were measured. The subjects were divided into the metabolic syndrome (MS) and non-MS groups. The levels of LPL were compared between these groups. Statistical analysis showed that the LPL levels were significantly lower in the MS group compared with the non-MS group, with the levels decreasing progressively as the number of MS components increased. We conclude that LPL levels decrease also in obese Japanese children with a deteriorated metabolic status in the same way as in adults.
  • 20.

    【2hr】A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia

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    机译 假性甲状旁腺功能减退症Ia患者GNAS基因的新型剪接突变
    摘要：
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