Coexistence of ovarian serous papillary cystadenofibroma and type A insulin resistance syndrome in a 14-year-old girl: A case report

BACKGROUND Type A insulin resistance syndrome is a rare disorder caused by mutations in the gene encoding the insulin receptor.Its coexistence with ovarian serous papillary cystadenofibroma is even rarer.CASE SUMMARY A 14-year-old girl developed type A insulin resistance syndrome and showed high fasting insulin,glucose,and hemoglobin A1c(HbA1c)levels.The girl suffered from ovarian serous papillary cystadenofibroma.The laboratory results were as follows:fasting insulin was 2624.90 pmol/L and HbA1c was 8.5%.A heterozygous missense mutation on exon 20 of the insulin receptor gene(c.3601C>T,Arg1201Trp)was observed.The histopathological diagnosis was a cystic lesion that extended to the upper right uterus,indicating a right ovarian serous papillary cystadefibroma accompanied by focal interstitial hyperplasia.The patient was treated with metformin for over 6 mo.Additionally,laparoscopic resection(bilateral)of the ovarian lesion and laparoscopic intestinal adhesiolysis were performed under general anesthesia.Diet therapy combined with exercise was then initiated.The patient had an uneventful recovery.The patient also showed improved blood glucose control,with reduced levels of fasting insulin(857.84 pmol/L)and HbA1c(7.0%).CONCLUSION Insulin resistance may play a significant role in the induction of tumors.It is important to investigate further the association between insulin resistance and tumors and the underlying mechanism.

Treatment and five-year follow-up of type A insulin resistance syndrome:A case report

BACKGROUND Type A insulin resistance syndrome(TAIRS)is a rare disorder characterized by severe insulin resistance due to defects in insulin receptor signaling.No specific drugs are available for the treatment of TAIRS.We report a case of TAIRS successfully treated with pioglitazone and flutamide for 5 years.CASE SUMMARY We present the rare case of a female patient aged 11 years and 9 mo with type A insulin resistance and an INSR heterozygous mutation(c.3614 C>T),who was treated with a combination of pioglitazone and flutamide.This treatment regimen reduced hemoglobin A1 c,fasting insulin and androgen levels.CONCLUSION Pioglitazone attenuated insulin resistance in this patient with TAIRS,and flutamide ameliorated masculinization.

Follicular hyperandrogenism and insulin resistance in polycystic ovary syndrome patients with normal circulating testosterone levels

Polycystic ovary syndrome（PCOS） is a common reproductive disease with high heterogeneity. The role of excess androgen in PCOS etiology remains disputed, since around 20%-50% of PCOS women do not display hyperandrogenemia. The microenvironment of the ovary critically influences follicular development. In the present study, we assessed the role of androgen in PCOS by investigating whether excessive follicular fluid androgen was present in PCOS patients with normal serum androgen levels and influenced by follicular fluid insulin resistance（IR）.Follicular fluid samples of 105 women with PCOS and 105 controls were collected. Levels of steroid hormones,glucose and insulin in the follicular fluid were examined and compared with data from serum biochemistry tests. We found that 64.9%（63/97） of PCOS patients with normal serum androgen levels displayed abnormally high follicular fluid androgen level. The follicular fluid androgen level was positively correlated with follicular fluid IR within a certain range and follicular fluid estrogen-to-testosterone（E2/T） ratio was significantly reduced in these patients.These results indicated that there existed a subgroup of PCOS patients who displayed excessive follicular fluid androgen and IR despite their normal circulating testosterone（T） levels. Our study highlights the importance of ovary hyperandrogenism and IR in the etiology of PCOS.

Monogenic diabetes in children:An underdiagnosed and poorly managed clinical dilemma

Monogenic diabetes,constituting 1%-2%of global diabetes cases,arises from single gene defects with distinctive inheritance patterns.Despite over 50 associated genetic disorders,accurate diagnoses and management of monogenic diabetes remain inadequate,underscoring insufficient clinician awareness.The disease spectrum encompasses maturity-onset diabetes of the young(MODY),characterized by distinct genetic mutations affecting insulin secretion,and neonatal diabetes mellitus(NDM)-a heterogeneous group of severe hyperglycemic disorders in infants.Mitochondrial diabetes,autoimmune monogenic diabetes,genetic insulin resistance and lipodystrophy syndromes further diversify the monogenic diabetes landscape.A tailored approach based on phenotypic and biochemical factors to identify candidates for genetic screening is recommended for suspected cases of MODY.NDM diagnosis warrants immediate molecular genetic testing for infants under six months.Identifying these genetic defects presents a unique opportunity for precision medicine.Ongoing research aimed to develop cost-effective genetic testing methods and gene-based therapy can facilitate appropriate identification and optimize clinical outcomes.Identification and study of new genes offer a valuable opportunity to gain deeper insights into pancreatic cell biology and the pathogenic mechanisms underlying common forms of diabetes.The clinical review published in the recent issue of World Journal of Diabetes is such an attempt to fill-in our knowledge gap about this enigmatic disease.

Potent Therapeutic Effects of Shouwu Jiangqi Decoction(首乌僵芪汤)on Polycystic Ovary Syndrome with Insulin Resistance in Rats

Objective：To investigate the effect of Shouwu Jiangqi Decoction（首乌僵芪汤,SJD） on polycystic ovary syndrome（PCOS） with insulin resistance（IR） in rats and to explore the underlining molecular mechanisms.Methods：A total of 51 female Sprague-Dawley rats were randomly divided into 6 groups：control group（n=7）,model group（n=8）,SJD high-dose group（n=9）,SJD medium-dose group（n=9）,SJD low-dose group（n=9） and DMBG group（n=9）.Radioimmunoassay was used to measure serum follicle-stimulating hormone（FSH）,luteinizing hormone（LH） and testosterone concentrations and qRT-PCR and western blot were used to examine the expression levels of mRNA and protein respectively of insulin receptor substrate 1（IRS-1）and phosphatidylinositide 3-kinases（PI3K） p85α in different groups.Results：FSH level significantly decreased in the model group compared with the normal control（P〈0.01）,and high-dose SJD and DMBG can significantly increase FSH level（P〈0.01）.LH level showed a mild increase without statistic significance in the model group compared with the control and different dosages of SJD had no significance effect on LH level,while DMBG can significantly decrease LH level（P〈0.01）.Testosterone level significantly increased in the model group compared with the control group（P〈0.01）,and high-dose SJD and DMBG can significantly decrease testosterone level（P〈0.01）.The expression of IRS-1 as well as PI3Kp85α were significantly decreased in the model group compared with the normal control group at both mRNA（P〈0.001） and protein（P〈0.01） level,and both high-dose SJD and DMBG can enhance IRS-1 and PI3 K expression（P〈0.05）.Conclusions：SJD has potent therapeutic effects on PCOS with IR in rats.The therapeutic effects of SJD on IR and ovulatory dysfunction are probably achieved through correcting the defective insulin signaling transduction.

Impact of Obesity in Non-Alcoholic Fatty Liver Disease

“Non-alcoholic fatty liver disease” is the alarming health risk around the world today. Nearly 1/3 of the world’s population is affected by non-alcoholic fatty liver disease. Many scientists put forward two hit hypotheses to explain the pathophysiology of non-alcoholic fatty liver disease. With the aid of trials using Biopsy, ultrasound scan and molecular techniques, scientists explained an authentic evidence of non-alcoholic fatty liver disease progression is ultimately because of obesity and its commodities, such as Cardio vascular diseases, Diabetes and Metabolic syndrome. This review mainly focuses on how obesity leads to non-alcoholic fatty liver disease based on statistical analysis of different research studies conducted by the research scientists. In the analysis of 1980-2003, out of 505 individuals, 305 were affected with NAFLD and among them, 64.3% were obese. In the analysis of the period of 1996-2002, out of 550 NAFLD patients, 70.36% were obese. Also in the analysis of 2010-2015 period of time, mostly 90% of the NAFLD patients were obese. It was also revealed that, along with NAFLD and obesity, diabetes and hyperlipidemia also exist as the commodities of obesity. Attention of medical field is towards the treatment and analysis of non-alcoholic fatty liver disease which is expected to be the reason of liver transplant by 2020.