The use of insulin lispro in children and adolescents with type 1 diabetes / 中华内分泌代谢杂志

The incidence and prevalence of type 1 diabetes in children and adolescents are increasing around the world,along with the suboptimal glucose control and higher incidence of long-term chronic complications during adulthood.Achieving good glycemic control and avoiding brain function damages induced by hypoglycemia are important when treating type 1 diabetes.Insulin lispro,a rapid-acting insulin used either alone or in combination with basal insulin analogue,can be effective,safety,and flexible.

Study on a novel androgen receptor gene mutation causing androgen insensitivity syndrome / 中华内分泌代谢杂志

Objective To investigate the clinical and genetic characteristics in two patients with androgen insensitivity syndrome. Methods Clinical features and laboratory data were collected from the patients and their families. All exons of the androgen receptor gene were amplified by PCR and PCR products were sequenced. Results Patient 1 presented with unambiguous female external genitalia, unilateral gynecomastia and primary amenorrhea. He did not have axillary hairs or pubic hairs. Patient 2 presented with undervirilization including scanty body hairs, gynecomastia and hypospadias. A missense mutation of

Advances in the genetic pathogenesis of autoimmune thyroid diseases / 中华内分泌代谢杂志

Autoimmune disease is the result of interplay between genetic and environmental factors, Immunoregulatory genes and thyroid specific genes play important roles in the pathogenesis of autoimmune thyroid diseases.

Mechanism of persistent thyrotropin suppression in euthyroid patients with Graves′ disease after treatment / 中华内分泌代谢杂志

Objective To explore the mechanism of persistent thyrotropin suppression in euthyroid patients with Graves′ disease after antithyroid drugs (ATD) treatment. Methods A prospective clinical study was performed in 122 patients with newly diagnosed Graves′ disease. All the patients were treated with 30 mg methimazole or 300 mg propylthiouracil daily, to whom L-T4was added, aiming at normalizing FT3 and FT4 but avoiding elevated TSH level. When the patients were clinically and biochemically euthyroid for at least 3 months, their blood levels of thyroid hormones, TSH, TSH receptor antibody(TRAb) and thyroid peroxidase antibody(TPOAb) were detected again and the cases were divided into two groups according to negative or positive TRAb. Results After treatment as long as (7.1±1.1) months, stable euthyroid status was restored for 3 months. When the patients reached the euthyroid state, 64 of them still had detectable TRAb levels, and 58 became negative TRAb. The two groups had similar levels of FT3 and FT4, but patients with positive TRAb had lower TSH level than patients with negative TRAb[0.044 mIU/L(0.001-4.163 mIU/L) vs 1.749 mIU/L(0.079-4.646 mIU/L),P＜0.01]. In addition, the TSH level was negatively correlated with TRAb level (r=-0.539, P＜0.01), and not with FT3, FT4 levels or other factors. Conclusion The present study showed that elevated TRAb level is associated with persistent suppression of TSH in patients with Graves′ disease after being rendered euthyroid. This finding may be due to the binding of TRAb to pituitary TSH receptor.

Prognostic factors in the relapse of Graves disease / 中华内科杂志

Objective To evaluate the variables which can be used as prognostic factors in predicting the outcome of Graves disease(GD)after treatment with antithyroid drugs.Methods We performed a retrospective audit of 204 patients with newly diagnosed Graves disease consecutively at the Ruijin Hospital.Results Overall,110 patients(53.9%)were considered to be treatment failures.Age at the time of diagnosis was(31.0±12.2)years in the successful group and(36.3±14.0)years in the failure group.Free T3(FT3)was(25.60±9.52)pmol/L and(19.16±6.38)pmol/L in the failure and the successful group(P=0.001).FT3 to FT4 ratio and thyrotrophin recptor antibody(TRAb)levels were higher in the failure group(P=0.001).Logistic regression analysis showed that thyroid size,FT3 to FT4 ratio and TRAb at the time of diagnosis were associated with failure outcome.The patients reached euthyroid state at 3,6,9 and 12 months respectively and in the failure group the patients with continued thyrotropin suppression were more than those in the successful group(P=0.001).Conclusions Graves disease patients with large thyroid size,high levels of TRAb and FT3 to FT4 ratio before drug treatment are more likely to fail to respond to antithyroid drug treatment.We also found that patients with continuing thyrotropin suppression and attainmen of euthyroid state in the course of treatment had low remission rate and prolonged therapy.

Changes of serum NT-proBNP concentration in patients with Graves' disease / 中华内分泌代谢杂志

Objective To investigate the changes of serum N-terminal-pro-B-type natriuretic peptide (NT-proBNP) concentration in patients with Graves' disease (GD) and its clinical significance. Methods Two hundred and sixty-nine patients with GD were enrolled in this study. Serum concentrations of thyroid hormones,TRAb, and NT-proBNP were measured. Results Serum NT-proBNP levels were positively associated with FT3(r=0.260, P<0.01), FT4(r=0.297,P<0.01) and heart rate (r=0.251, P<0.05) independent of age,sex and body mass index (BMI). The difference of serum NT-proBNP concentrations between newly-onset and treated patients existed (P<0.01) after the adjustment for thyroid hormone levels, age, sex and BMI. Serum FT4level exerted a significant impact on NT-proBNP level (P <0.01). Serum NT-proBNP increased even in patients with controlled thyroid function. Conclusion Serum NT-proBNP level in patients with GD increases with elevation of FT4 independent of sex, age and BMI. The measurement of serum NT-proBNP concentration appears to be helpful to monitor the alteration of vascular stiffness and fluid volume in GD patients, and may provide useful evidence for early intervention of cardiovascular disease induced by hyperthyroidism.

Investigation of RET proto-oncogene mutation in patients with medullary thyroid carcinoma / 中华内分泌代谢杂志

Objective To detect the mutations of RET proto-oncogene in patients with medullary thyroid carcinoma (MTC). Methods Twelve patients with MTC confirmed by pathology and two clinically suspected patients were recruited. Total genomic DNA was extracted from peripheral blood for PCR. PCR products of exon 10, exon 11 and exon 16 of the RET proto-oncogene were purified and direct gene sequencing was performed. Results The genomic mutations were detected in 8 patients, in which direct gene sequencing analysis detected a mutation of TGC to CGC at codon 618 in exon 10 in 1 patient, a mutation of TGC to TAC at codon 634 in exon 11 in 2 cases, a mutation of TGC to CGC at codon 634 in exon 11 in 3 patients and a mutation of ATG to ACG at codon 918 in exon 16 in the remaiming 2 cases. Conclusion MTC can be diagnosed at gene level by direct gene sequencing analysis. It is possible to diagnose MTC before operation by means of molecular genetic analysis.

Thyroid hormone resistance syndrome caused by V458A mutation in the thyroid hormone receptor ? gene / 中华内分泌代谢杂志

Objective To study the genotype of the thyroid hormone receptor ? (THRB) gene in a patient with thyroid hormone resistance syndrome. Methods The peripheral blood samples of the patient and his parents were collected, then DNA was isolated. PCR and direct sequencing techniques were performed to determine if there were mutations in their THRB gene. Results No mutation was found in exon 1-9. There was a point mutation in exon 10 of THRB which is a T to C transition in nucleotide 1658 resulting in the replacement of the normal Val (GTG) with an Ala (GCG) (V458A). The mutation was located in exon 10 of THRB gene and was a heterozygote. No mutation was found in THRB gene of his parents.Conclusion The gene diagnosis confirms that the patient has a mutation V458A located in the ligand binding area of THRB.

Two cases of MEN1 gene mutation-induced multiple endocrine neoplasia type 1 and analysis of their pedigrees / 中华内分泌代谢杂志

Objective To determine the relationship between MEN1 gene mutations and occurrence of multiple endocrine neoplasia type 1 and their inherited characteristics. Methods Genomic DNA was extracted from the peripheral blood lymphocytes of patients and other family members. PCR was performed to amplify all 10 exons of MEN1 gene. The PCR products were directly sequenced. Subclone sequencing was performed to identify the heterozygosity. Results An 18 base pairs of insertion(372-373 insACCTGTCTATCATCGCCG) was identified in one family and a 4 base pairs of deletion (357-360delCTGT) in the other family, both mutations occurred in exon 2 of MEN1 gene in the patients, and the former was a new mutation. Conclusion The MEN1 gene mutations were identified in two Chinese families with multiple endocrine neoplasia type 1, in one of which a novel mutation of MEN1 gene (372-373insACCTGTCTATCATCGCCG) was detected.

Clinical analysis of patients with anorexia nervosa / 中华内分泌代谢杂志

Objective To improve the awareness of clinical manifestation, endocrine changes and prognosis in patients with anorexia nervosa (AN). Methods The clinical features and endocrine functions of 28 patients with AN were analysed, and the prognosis was based on the results of 4 months-7 years follow-up of these patients. The change of serum leptin level was observed during different therapeutic periods in 13 patients. Results Most of AN patients were young women (92.9%, 26/28), age of onset was (19.4?3.8)years old and the duration of follow-up was from 4 months to 7 years. Self-starvation, extreme weight loss and amenorrhoea were the characteristic manifestations. This investigation discovered 24 patients with hypofunctional hypothalamus-pituitary-gonad axis, 12 with hyperfunctional hypothalamus-pituitary-adrenal axis, 9 with decreased levels of thyroid hormones, 2 with increased level of GH (n=10), 8 with decreased level of IGF-Ⅰ (n=10). Leptin levels in AN patients (n=9) weresignificantlydecreasedascomparedwiththecontrol group (n=26) 〔(1.21?0.36 vs 7.70?4.15)?g/L, P