Objective To analyze the CYP17 gene of two sisters with combined 17-alpha-hydroxylase/17, 20-lyase deficiency, and that of their parents. Methods Genomic DNA of the four members was prepared from peripheral blood by standard methods. All the eight exons and intron/exon boundaries of CYP17 were PCR amplified and sequenced. All the hormone levels were measured by time-resolved immunofluorometric assay. Results Combined 17-?-hydroxylase/17, 20-lyase deficiency was confirmed by marked hormone change. Sequence analysis revealed that the sisters were homozygous 985delTACinsAA of CYP17, and their parents were heterozygous 985delTACinsAA. Conclusion Novel mutation of 985delTACinsAA in CYP17 was found in two sisters with 17-?-hydroxylase/17, 20-lyase deficiency. The homozygous one can induced the phenotype and the heterozygous one is a genomic marker.

Objective To investigate the effect of Chlorogenic acid on oxidative and antioxidative system of kidney in diabetic rats.Methods 36 rats were randomly divided into three groups:normal group(N group),diabetes mellitus group(DM group)and diabetes group treated with chlorogenic acid(CA group).Ten weeks later,blood glu-cose,weight of body and kidney ,the activity of superoxide dismutase(SOD)and glutathione peroxidase(GSH-PX)lipidperoxidation(MDA),urinary albumin excretory rate(UARE)in renal tissue were measured.Results The levels of blood glucose were not significantly different between DM group and CA group,but the weight of rats and kid-ney and the activity of SOD and GSH-PX in CA group were higher than DM group,and MDA and UAER of CA group were lower(P<0.05 for each).Conclusion Chlorogenic acid effective in improving the antioxidativity,inhibiting oxidative stress and decreasing urinary albumin.

Clinical data were retrospectively analyzed in 20 cases with Hashimoto's thyroiditis complicated with subacute thyroiditis from February 2009 to April 2013.85％ of the patients showed elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP).Thyroid peroxidase antibody (TPOAb) was found in 95 ％ of the patients,while thyroid globulin antibody (TgAb) in 100％.Uptakes of radioactive iodine were lowered.Symptoms such as fever or pain were ameliorated quickly after treatment with glucocorticoids or non-steroidal anti-inflammatory drugs.

Objective:To discuss dexamethasone on proliferation of mouse thyroid follicular cells and apoptosis. Methods:Taken BALB/c mice thyroid tissue to trypsin+Ⅱcollagenase digestion organizations get thyroid follicular cells,and expression of thyro-globulin determined whether or not the target cell. Then different concentrations of dexamethasone to stimulate target cells,and the use of MTT,flow cytometry cell proliferation rate,apoptosis rate and the apoptosis-related gene expression analysis. Results: Trypsin joint type Ⅱ collagenase treatment of thyroid tissue to obtain a stable passage of thyroid follicular epithelial cells,and cells stably expressing thyroglobulin. At the same time, different concentrations of dexamethasone on cell proliferation difference was statistically significant (F=8. 544, P<0. 05 ), and the suppression of drug action have interaction ( F = 4. 532, P<0. 05 );in addition, differently dexamethasone concentration 10-6 mol/L, 10-5 mol/L, 10-4 mol/L, the apoptosis rates were 13. 39% ± 0. 79%, 17. 43% ± 1. 38%, 26. 42%±1. 74%,both with 0 mol/L to plug betamethasone 4. 51%± 0. 06% apoptosis rate differences were statistically significant (P<0. 05,P<0. 01),while the difference in the expression of apoptotic genes trend still showed a dose-dependent manner. Conclusion:Dexamethasone can effectively inhibit thyroid follicular cell proliferation and induce apoptosis through a variety of apoptotic pathways.

Objective To observe the mode of RET proto-oncogene mutation in a pedigree with multiple endocrine neoplasia type 2A (MEN2A).Methods Six members from a MEN2A family,including the proband,were enrolled.Genomic DNAs of these members were extracted from peripheral blood lymphocytes for polymerase chain reaction(PCR),PCR products of 21 exons of the RET proto-oncogene were purified and a direct gene sequence analysis was performed.DNA sequencing was performed on the related exon of the other family members after verifying the mutation site.Results The female proband sufferd from pheochromocytoma and medullary thyroid carcinoma since the age of 45,two missense mutations of TGC(Cys) to TCC(Ser) at codon 634 and CTG(Leu) to TTT(Phe) at codon 633 in exon 11 of the RET proto-oncogene were detected in the proband,while the other members remain unchanged.Conclusions Analysis of the RET proto-oncogene identifies a united mutation of TGC (Cys) to TCC (Ser) at codon 634 and CTG(Leu) to TTT(Phe) at codon 633 in the proband.The former is a proven mutation related to MEN2A,while the latter has never been reported before.

The methylation status of GNAS1 gene in pseudohypoparathyroidism type Ib patients was detected by methylation-specific PGR technique. There was an abnormal methylation of 1A region in all seven PHPIb patients. Loss of exon 1A methylation (imprinting defect) seems to be the cause of PHPIb.

Objective:To investigate the association of abdominal fat distribution with glycolipid metabolism and diabetic complications in patients with T2DM.Methods:Totally 357 inpatients with T2DM were collected from the Endocrinology Department of our hospital. All patients received quantitative computed tomography to measure the visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT), and were divided into three groups depending on the tertile of VAT value: T1 group (VAT<162.0 cm 2), T2 group (162.0≤VAT<221.1 cm 2), T3 group (VAT≥221.1 cm 2). The incidences of diabetic kidney disease, diabetic retinopathy, diabetic peripheral neuropathy, peripheral atherosclerosis, and cardia-cerebrovascular disease were examined in all patients. Results:HbA 1C level in T1 group was higher than that in T3 group( P<0.05). High density lipoprotein-cholesterol (HDL-C) and estimated glomerular filtration rate (eGFR) in T1 group were higher compared with those in T2 and T3 groups ( P<0.05). Male proportion, age, body mass index (BMI), systolic blood pressure (SBP), diastolic blood pressure (DBP), triglyceride (TG), 24h urinary albumin, diabetic kidney disease and peripheral atherosclerosis in T2 and T3 groups were higher than those in T1 group ( P<0.05). Fasting C- peptide (FCP) and modified homeostasis model assessment for insulin resistance (HOMA-IR) in T3 group were higher than those in T1 and T2 group ( P<0.01). VAT and SAT were positively correlated with BMI, FCP, and HOMA-IR (p<0.01). VAT was positively correlated with age, SBP, DBP, TG, 24h urinary albumin, diabetic kidney disease, peripheral atherosclerosis, and cardia-cerebrovascular disease ( P<0.05), while inversely correlated with HbA 1C, HDL-C, and eGFR ( P<0.05). SAT was positively correlated with total cholesterol and low density lipoprotein-cholesterol ( P<0.01), while negatively correlated with peripheral atherosclerosis ( P<0.01). Multivariate logistic regression analysis showed that VAT was still a risk factor for diabetic kidney disease after adjusted by age, BMI, SBP and fasting plasma glucose( P=0.013). Conclusion:VAT and SAT are associated with blood lipids and insulin resistance, while VAT seems to be a risk factor for diabetic kidney disease.

Objective:To explore the differential diagnosis methods between nonclassical 21-hydroxylase deficiency(NC21-OHD) and polycystic ovary syndrome(PCOS).Methods:The clinical data of 31 women with NC21-OHD were compared with those of 29 women with PCOS.Results:Women with NC21-OHD showed a higher prevalence of adrenal hyperplasia and lower likelihood of polycystic ovary(PCO) than those with PCOS( P<0.05), with lower height( P<0.05). The levels of adrenocorticotropic hormone (ACTH), 17-hydroxyprogesterone(17-OHP), androstenedione(AD), total testosterone(TT), and progesterone were higher in women with NC21-OHD compared with those with PCOS( P<0.05). Women with PCOS had higher levels of luteinizing hormone(LH) and higher ratio of LH to follicle stimulating hormone(FSH) than those with NC21-OHD( P<0.05). The best two identification indexes for the two diseases were 17-OHP and progesterone, with the optimal cut-off points 3.34 ng/ml(sensitivity 89.7%, specificity 93.1%) and 0.64 ng/ml(sensitivity 90.0%, specificity 75.9%), respectively. During the 1-day mid-dose dexamethasone suppression test(DST), women with NC21-OHD had higher inhibition rates of 17-OHP, progesterone, AD, and TT( P<0.01) than those with PCOS. Their optimal cut-off values of suppression rates were 73.5%(sensitivity 95.2%, specificity 100.0%), 55.5%(sensitivity 100%, specificity 88.9%), 61.4%(sensitivity 84.2%, specificity 100.0%), 68.3%(sensitivity 65.0%, specificity 100.0%), respectively. Conclusion:The clinical manifestations of women with NC21-OHD are similar to those with PCOS. 17-OHP is the best differential indicator and the 1-day mid-dose DST plays an important role in the identification of the two diseases. Genetic analysis is the gold standard for distinguishing the two diseases.

Objective:To summarize the clinical manifestations and molecular genetic characteristics of 5 families with maturity-onset diabetes mellitus of the young 2 (MODY2) caused by glucokinase (GCK) gene mutations.Methods:Clinical data and biochemical results of probands were collected. Peripheral blood samples of probands and first-degree family members were collected and whole exome gene was detected using second-generation sequencing. After comparing against the database, the suspected pathogenic sites were selected for Sanger sequencing verification.Results:All the 5 probands presented with mild fasting hyperglycemia, HbA 1C<7.5%, and no symptoms of thirst, polydipsia or polyuria. There were 6 mutants in 5 families, including M1: c.555delT (P.leu186CysFS Ter19) and M3: c. 263T>A (p.Met88Lys) which haven′t been reported before. During the follow-up, all probands received life-style intervention, except 2 pregnant women who should consider insulin treatment if necessary according to fetal genotypes. Conclusion:Among patients who meet the diagnostic criteria for MODY, MODY2 screening should be performed for children or pregnant women with mild hyperglycemia and family history. GCK gene detection is the gold standard for diagnosis, and accurate diagnosis will be conducive to the selection of appropriate treatment.

Objective:To analyze nine cases of pregnancy and lactation-associated osteoporosis(PLO) along with a literature review to improve clinicians′ knowledge of the disease.Methods:We collected medical history, laboratory examination, bone mineral density(BMD) scan, treatment and follow-up data of 9 inpatients with PLO in the Endocrinology Department of the First Affiliated Hospital of Zhengzhou University from January 2014 to June 2021.Results:The median age of onset of 9 patients with PLO was 30 years(22-37 years). All 9 patients presented low back pain, and the median time of low back pain after childbirth was 2.5 months(0.5-7 months). 89% of the patients presented vertebral compression fractures, and the mean number of vertebral fractures was 4.6. Eight patients with PLO showed osteoporosis by dual X-ray absorpiometry(DXA) scan, and one patient showed bone loss by quantitative CT scan. Osteoporosis predominated in the trabecular bone. After the diagnosis, nine patients with PLO stopped breastfeeding and were given calcium and vitamin D preparations. Seven patients were given bisphosphonates and one patient was treated with teriparatide followed by denosumab. The back pain of all patients was relieved, with the median of relief time being 3 months(7 d-6 m). After treatment initiation, BMD was increased in eight patients, especially obvious in the lumbar spine. No new clinical fractures occurred during the follow-up.Conclusions:For women with low back pain and shortened height in late pregnancy or breastfeeding, the possibility of PLO should be considered. Prompt diagnosis and early medical interventions are of utmost importance to reduce the risk of subsequent fractures and improve the prognosis.