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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.
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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.
ABSTRACT
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.
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Objective To explore more suitable calculation method of the insulin dosage in insulin hypoglycemia-growth hormone stimulation test(insulin tolerance test, ITT). Methods Fifty-six subjects suspected of growth hormone deficiency were divided into primary and secondary onset groups. All the patients took oral glucose tolerance test and ITT. Homeostasis model of assessment for insulin resistance index ( HOMA-IR) and insulin sensitivity index ( ISI), area under insulin curve ( AUCINS ) and the area under glucose curve ( AUCPG ) were calculated. The insulin dosages during ITT between two groups were compared and the main factors influencing the insulin dosage were analyzed. Results There was no difference in the insulin dosage during ITT between primary and secondary groups. The actual dosage of insulin in this cohort study revealed a significant difference from the initial insulin dosage recommended by the guideline. Multiple linear regression analysis found that AUCINS and body mass index were the independent factors affecting the insulin dosage. Then the optimized coefficient of ITT ( γ) were found. Conclusion The insulin dosage used in our study was inconsistent with the guidelines-recommended ones. In order to make ITT more efficient and safer, a more optimized calculation method to improve the successful rate of insulin-induced hypoglycemia in ITT is proposed.
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[Summary] Patients with infertility and non-obese polycystic ovary syndrome ( PCOS) were treated with continuous subcutaneous pulse infusion of GnRH. After the treatment, a 32-year old female had regular menstrual cramps. Dominant follicle occurred after 2 months of treatment. The patient was pregnant and now has a healthy baby boy. It shows that the pulse infusion of GnRH could induce spontaneous ovulation and natural fertilization of the patients with non-obese PCOS.
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Objective To apply continuous subcutaneous pulse infusion of gonadotropin-releasing hormone (GnRH) to treat patients with central secondary amenorrhea,and to observe the induction of spontaneous ovulation and natural fertilization.Methods Using micro-pulse infusion pumps with each 90-minute infusion of LHRH 10 μg daily,the serum LH,FSH,estrogen,and progesterone levels ; and change in endometrium and ovarian size before and after treatment were monitored.The end point is natural pregnancy.Results The levels of serum LH,FSH,and estrogen were obviously increased after 4 weeks of treatment.The natural menstrual cycle was rebuilt after 8 weeks of treatment.The patient was pregnant and the treatment was stopped by 16 weeks.The experience of pregnancy was favourable.40 weeks later,the patient delivered a healthy female infant via caesarean section.Conclusions It was the first time in China that the technology of micro GnRH pump was applied in patients with secondary central amenorrhea.The result demonstrates that this technology can perfectly simulate the physiology of hypothalamic GnRH secretion.At present,more patients are included in this research to confirm the effectiveness.
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Medullary thyroid carcinoma(MTC), which includes sporadic type and hereditary type, is a kind of malignant tumor in thyroid parafollicular cells. MTC is the common clinical character of the multiple en-docrine neoplasia type 2 (MEN 2), including MEN 2A and MEN 2B, and familial medullary thyroid carcinoma(FMTC). The RET gene encodes a receptor tyrosine kinase, its mutations and polymorphisms can induce acti-vation of the BET tyrosine kinase domain via different signal pathways resulting the genesis of MTC. RET has been used as a target for MTC molecular therapy. However, a clinically useful therapeutic option for treating pa-tients with RET-associated cancer is still not available.
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BACKGROUND:At present,using membrane materials to separate spinal dura mater and scar tissue or using semiliquid materials to surround the dimension of operation are very common after laminectomy.However,therapeutic eflfects ale not satisfactory.Inhibition to the proliferation of fibroblasts,which are the main components of repairing cells,and regulating collagen metabolism have become a hot spot for preventing and treating pathological scar by a biological method.OBJECTIVE:To compare the therapeutic effects of topical application of different concentrations of mitomycin C (MMC)on preventing pefidural adhesion in rats after laminectomy by a qualitative and quantitative combined method.DESIGN:A completely randomized grouping.controlled animal experiment.SETTING:Department of Orthopaedics,Second People's Hospital of Lianyungang City.MATERIALS:Forty healthy adult male SD rats,weighing 200-220 g,were provided by the Animal Experimental Center,Nanjing Medical University.MMC was produced in Union Fermentation Co.,Ltd(Batch No.425ACI,Import drugs registration No.H20020163,Japan).METHODS:The study was performed at the Animal Laboratory Center,Nanjing Medical University,and the Basic Experimental Center,Medical College,Jiangsu University from June 2004 to October 2006.The 40 SD rats were ralndomly divided into 4 groups with 10 rats in each group:MMC high-,medium-,and low-concentration groups,and a control group.After anesthesia,each rat was removal of L1 vertebral plate.A defect(0.2 cm×0.5 cm)was created to expose duml mater.After hemostasia,cotton Pads soaked either with various concentrations ofMMC(0.1,0.05,0.01 g/L)or saline were covered on the laminectomy defects in the three MMC-treated groups and the control group for 5 minutes respeetively.The protocol was carried out in accordance with ethical guidelines for the use and care of animals.MAIN OUTCOME MEASURES:After the operation,4 rats were randomly selected from all anesthetized rats in each group,separately.The peridural scar tissue in the laminectomy segment was cut for calculating the contents of hydroxyproline.Spine columns in the laminectomy segment including Surrounding muscle tissue were resected for measuring irregular sear transverse area and counting the number 0ffibroblasts.The degree of peridural scar adhesion was evaluated by the light microscope.RESULTS:Forty rats were included in the final analysis.In the control group,peridural scar tissue was dense and closely adhered to dura mater.In the MMC high-concentration group.no noticeable peridural adhesion was found.and contents of hydroxyproline,collagen tissue area and the amount of fibroblasts in the scartissue were significantly reduced compared to control group(all P＜0.05).In the MMC medium-and low-concentration groups,contents of hydroxyproline,collagen tissue area and the amount of fibroblasts had reduced to different extents compared to control group.There was significant difference only in the amount of fibroblasts between the MMC mediumconcentration group and the control group(P＜0.05).Incontinuous adhesion between scar tissue and dura mater was found in the MMC medium-and low-concentration groups.CONCLUSION:Topical application of 0.1 g/L MMC can effectively reduce peridural scar tissue hyperplasia and avoid peridural scartissue adhesion afterlaminectomy.