Autoimmune hypophysitis is an inflammation of the pituitary gland resulting from autoimmune response, which can be classified as primary hypophysitis and secondary hypophysitis according to the etiology.The clinical presentation includes hypopituitarism and a pituitary mass.The diagnosis is based on clinical findings and radiology, while the pathology serves as the golden standard.The treatment is aimed at reducing the size of the pituitary mass, replacing the defective hormones and decreasing hyperprolactinemia.This review is about the epidemiology, pathogenesis, diagnosis, and treatment of lymphocytic hypophysitis, hypophysitis secondary to cytotoxic T-4 blockade, and IgG4-related hypophysitis.

Objective To investigate lead pollution of tap in market. Methods 16 taps (2 PPR taps and 14 metal taps)were collected and were sunk in distilled water for 4 hours,8 hours and 12 hours. Lead levels in the distilled waters were determined by atomic absorption spectrometry. Results No lead was detected for PPR taps. Of 14 metal taps,only one tap was not observed lead pollution. The top lead level was 56.54 ?g/L,the median was 5.79 ?g/L. These brass taps resulted in higher lead pollution than those taps with ceramic preformed core (P0.05). 72.2% of the samples with brass preformed core exceeded 10 ?g/L and only 9.5% for those taps with ceramic preformed core. These taps with registered trade mark had a slighter lead contamination than those without registered trade mark(P

Objective The study was to investigate the spectrum and incidence of the hot-spot deafness gene mutations from non-syndromic hearing loss(NSHL)in Guizhou province.Methods Genomic DNAs of 356 patients of NSHI in Guizhou were obtained from peripheral blood and a deafness gene test chip was used to screen nine hot spot mutation in the gene GJB2,SLC26A4,GJB3 and mitochondria 12SrRNA.Results Eighty-eight (24.72%)out of 356 patients were found carrying at least one pathogenic gene mutation.Among them,40 patients with the GJB2 mutations were found(11.24%),including 19 cases(5.34%)of homozygous matutions,5 cases(1.40%)of com-pound heterozygous mutations,and 15 cases(4.21%)of single heterozygous mutations.Twenty-nine patients with the SLC26A4 mutations were found (8.15%),including 9 cases(2.53%)of homozygous mutations and 19 cases (5.34%)of single heterozygous mutations.Homogenic mitochondrial 12SrRNA 1555A>G mutations were in 10 patients(2.81%)and 1494C>T mutations in 10 patients (0.56%),and heterogeneous mitochondrial 12SrRNA 1555A>G mutations in 7 patients(1.97%).GJB3 gene c.538C>T heterozygous mutations was found in 1 patients. Conclusion The mutations of GJB2 and SLC26A4 gene are two major pathogenic genes for patients with NSHL in Guizhou province.Our study provides a theoretical basis for the early diagnosis,genetic counseling and treatment of deafness.

To improve the recognition and treatment of the combination of classical congenital adrenal hyperplasia (CAH) and Turner's syndrome. A case of 21-hydroxylase deficiency (21-OHD) in 45,X[3] / 46,XX [47] was reported,and the related literatures were reviewed. A 29-year-old woman with 45,X[3] / 46,XX[47] was referred with clitorimegaly and primary amenorrhea. Her height was 150 cm with a weight of 56 kg. Physical examination revealed a Tanner stage Ⅵ for both breast development and pubic hair development. She showed a little signs of Turner' s syndrome, such as cubitus valgus. Lab findings: sex hormones are significantly increased, including progesterone, testosterone, dehydroepiandrosterone, 17 hydroxyprogesterone, dihydrotestosterone, and androstendione. Enhanced CT scan showed bilateral adrenal hyperplasia. Gynecological ultrasound showed that the size of the uterus and ovary were near normal and the endometrium was not clear. By gene mutation screening, two mutation sites were found in CYP21A2 gene, such as IVS2-13C/ A→G and p. Ile173Asn( c. 518T→A). Taken together, the patient was diagnosed as a combination of 21-OHD and Turner syndrome. A total of ten patients associated with CAH in Turner's syndrome have been reported so far. The findings showed that routine karyotyping during investigations of patients presenting with ambiguous genitalia or with a diagnosis of CAH may reveal the concomitant presence of Turner's syndrome. We should make a definite diagnosis and give early treatment as soon as possible.

Objective To analyze clinical characteristics and gene mutation of two patients diagnosed with P450 oxidoreductase deficiency(PORD). Methods Clinical data of 2 patients with PORD was collected from Ruijin hospital. POR gene mutation was analyzed by PCR-Sanger sequencing. A retrospective analysis of literatures concerning PORD was performed. Results Patient 1, female, 16 years old, with 46,XX karyotype, presented with anorectal anomalies, clitoral hypertrophy at birth and irregular menstruation; Patient 2, female, 32 years old, with 46,XX karyotype, showed irregular menstruation and infertility, both without obvious skeletal deformity. Genetic test of POR gene mutation revealed that patient 1 carried a homozygous missense mutation (R457H) and patient 2 carried a heterozygous mutation (R223X/ Y607C). The two mutations (R223X and Y607C) are reported for the first time in China. Conclusion P450 oxidoreductase deficiency which caused by mutations in POR gene has a variety of clinical manifestations, including abnormal steroid hormone synthesis with or without Antley-Bixler syndrome. The affirmative diagnosis should rely on steroid hormone measurement and POR gene analysis.

Objective:To investigate the expression of long non-coding RNA (lncRNA) COX10-AS1 in renal cell carcinoma tissues and cell lines and its effect on proliferation and migration of renal cancer cells.Methods:Fluorescence real-time quantitative PCR (qRT-PCR) was used to detect the expression of COX10-AS1 in surgical specimens that have been diagnosed as renal cancer tissues and adjacent tissues by pathology, renal cancer cell lines (786-O, CaKi-1, A498, ACHN) and normal renal tubular epithelium cell line (HK-2). The ACHN cells with the lowest expression were divided into a control group (transfected with a negative control plasmid carrying nonsense sequences) and an experimental group (transfected with a plasmid carrying COX10-AS1 sequences). The expression level of COX10-AS1 was detected by qRT-PCR in two groups of cells. The proliferation and migration ability of ACHN cells were detected by MTS assay and cell scratch assay. The expression of MFN2 mRNA was detected by qRT-PCR. The expressions of MFN2 and Ras-NF-κB signaling pathway proteins were detected by Western blotting. The measurement data were expressed as mean±standard deviation ( Mean± SD), the comparison between the two groups used the t-test, and the comparison among multiple groups adopts the one-way analysis of variance. Results:The expression of COX10-AS1 in renal cell carcinoma was significantly lower than that in adjacent tissues ( P<0.01), The expression of COX10-AS1 in renal cell carcinoma cells was significantly lower than that in renal tubular epithelial cells ( P<0.05), the expression of COX10-AS1 was the lowest in ACHN cells( P<0.01), the above differences were statistically significant compared with the control group, the expression of COX10-AS1 in ACHN cells of experimental group was significantly increased ( P<0.01), the above differences were statistically significant compared with the control cells, the proliferation of ACHN cells in the experimental group was significantly decreased ( P<0.05), and the cell migration ability was significantly decreased ( P<0.01). Compared with the control cells, the expression of MFN2 mRNA in ACHN cells of experimental group was significantly increased ( P<0.01). The expression levels of MFN2 were significantly up-regulated ( P<0.01), and Ras-NF-κB signaling pathway proteins were significantly down-regulated ( P<0.05), the above differences were statistically significant. Conclusions:The expression of COX10-AS1 is decreased in renal cell carcinoma tissues and cell lines. COX10-AS1 may inhibit the proliferation and migration of ACHN cells by promoting the expression of MFN2 gene.

The clinical features and laboratory data of two patients with congenital lipoid adrenal hyperplasia (CLAH)were collected. The genomic DNA was extracted from the peripheral blood white cells in the two patients and their family members and the STAR gene was screened for mutations by PCR and Sanger sequencing. Patient 1 was a girl aged 2 years and 8 months,and she visited us because of continual cyanosis for more than two years. Physical examination showed no obvious pigmentation or clitoral hypertrophy,and Tanner stage was B1P1. Clinical examination revealed serum ACTH 1 284.1 pg/ml and 17α-hydoxyprogesterone(17-OHP)0.54 ng/ml, with Karyotype 46, XX. Genetic analysis showed compound heterozygous mutations of c.201_202delCT and c.229C>T in the STAR gene. Her father carried heterozygous c.201_202delCT mutation, and her mother showed heterozygous c.229C>T mutation. Patient 2 was a girl aged 22 years and referred to us because of dark skin for more than 21 years. Physical examination revealed generalized hyperpigmentation,with Tanner stage B5P2. Hormone examination showed ACTH>2 000 pg/ml and serum cortisol 0.77μg/dl. Karyotype analysis revealed 46,XX. Genetic analysis found compound heterozygous mutations of c.64+1G>C and c.707_708delinsCTT in the STAR gene,which descended from her father and mother respectively. Of note,c.64+1G>C is a novel splicing mutation of STAR gene.