Multidisciplinary team management of 46,XY 17α-hydroxylase deficiency: a case report and literature review.

BACKGROUND: We report here a case study of 17α-hydroxylase deficiency in a phenotypic girl with male karyotype (46,XY). We also review the relevant literature to deepen our understanding of the disease, reduce the rate of missed diagnosis, and emphasize that holistic management of this disease requires collaborative multidisciplinary teamwork. CASE PRESENTATION: A 14-year-old patient with a female phenotype visited the endocrinology department because of hypertension. The patient had primary amenorrhea and lacked secondary sexual characteristics. Initial laboratory evaluation revealed normal levels of electrolytes, a hypergonadotropic hypogonadal state with high progesterone and low testosterone levels, and a 46,XY karyotype. She was referred to the urology department for gonadectomy and transferred to the gynecological endocrine clinic. On the basis of the patient's medical history and genetic testing results, a diagnosis of 46,XY 17α-hydroxylase deficiency was made. The patient was provided with glucocorticoids, estrogens, metformin, and psychological support. CONCLUSIONS: Patients with 17α-hydroxylase deficiency, a rare cause of congenital adrenal hyperplasia, should be treated by a multidisciplinary team. Relevant experts from different disciplines should set up a systematic and comprehensive individualized management plan to optimize the physical and mental health and quality of life of affected patients.

Effects of vitamin D supplementation on metabolic parameters of women with polycystic ovary syndrome: a meta-analysis of randomized controlled trials.

OBJECTIVE: The purpose of this meta-analysis was to evaluate the effects of vitamin D supplementation on metabolic parameters of women with polycystic ovary syndrome (PCOS). METHODS: We performed a literature search of databases and identified randomized controlled trials (RCTs) published prior to December 2019. A meta-analysis was conducted using RevMan 5.3 and Stata 12.0 software. We compared the effects of vitamin D supplementation alone to the administration of placebos on metabolic parameters of PCOS women with vitamin D deficiency. RESULTS: Ten articles of RCTs were included and analyzed in this meta-analysis, which included a total of 520 PCOS women. Our meta-analysis results showed no significant effects of vitamin D supplementation on BMI (p = .43), systolic blood pressure (p = .05), diastolic blood pressure (p = .87), fasting insulin concentration (p = .86), HOMA-IR (p = .47), HDL-C (p = .76), LDL-C (p = .23) and triglyceride (p = .77). Both low dose vitamin D supplementation (<4000 IU/day) and high dose vitamin D supplementation (≥4000 IU/day) were found to significantly decreased the fasting glucose concentration (p = .01, p = .001, respectively). Vitamin D supplementation significantly decreased total cholesterol concentration (p = .03). CONCLUSIONS: The results of this meta-analysis suggested that vitamin D supplementation decreases fasting glucose concentration and total cholesterol concentration in PCOS women with vitamin D deficiency.

Vitamin D Deficiency Is Associated With Metabolic Risk Factors in Women With Polycystic Ovary Syndrome: A Cross-Sectional Study in Shaanxi China.

Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women at reproductive age, which is characterized by obesity, hyperandrogenemia, and insulin resistance (IR). This study aimed to investigate the vitamin D status, and analyze the relationship between vitamin D deficiency and metabolic risk factors in PCOS women in Shaanxi China. Methods: A cross-sectional study included 169 women diagnosed with PCOS and 114 control women without PCOS. The serum 25(OH)D and metabolic markers were measured. Vitamin D deficiency was defined as serum 25(OH)D concentration less than 20 ng/mL. The primary outcome was the difference in vitamin D status between the PCOS and control groups, the secondary outcomes were correlations between serum 25(OH)D concentration and metabolic risk factors in women with PCOS. Results: The serum 25(OH)D concentration was significantly lower in women with PCOS than in controls (P < 0.05), and the prevalence rates of 25(OH)D deficiency and insufficiency were significantly higher in women with PCOS than in controls (P < 0.05). The serum 25(OH)D concentration was significantly lower in PCOS women with obesity or IR than in women without obesity or IR (P < 0.05), and the prevalence of 25(OH)D deficiency in PCOS women with obesity or IR was significantly higher than in women without obesity or IR (P < 0.05). Serum 25(OH)D concentration was significantly negatively correlated with body mass index (BMI), waist-to-hip ratio (WHR), fasting insulin, homeostasis model assessment of insulin resistance (HOMA-IR), total cholesterol, low-density lipoprotein cholesterol (LDL-C), and high-sensitivity C-reactive protein (hs-CRP) (P < 0.05). In comparison, serum 25(OH)D concentration was significantly positively correlated with high-density lipoprotein cholesterol (HDL-C) (P < 0.05). Increased BMI and WHR, high levels of fasting insulin, HOMA-IR, total cholesterol, LDL-C and hs-CRP were regarded as risk factors, but high level of HDL-C was considered to be protective factor of vitamin D deficiency in PCOS women. Conclusions: Vitamin D deficiency is prevalent in PCOS women in Shaanxi China, especially in those with obesity and IR. The serum 25(OH)D level was correlated with metabolic risk factors in PCOS women. Multi-center randomized controlled trials with large sample sizes are needed to probe the metabolic effect of vitamin D supplementation in PCOS women.

[The detection and clinical significance of hepatic fibrosis index].

OBJECTIVE: To study the relationship between levels of serum HA, LN, IV-C, PC III of chronic hepatitis and indexes of hepatic fibrosis. METHODS: The levels of serum HA, LN, IV-C and PC III of chronic hepatitis of 124 cases and health 18 cases were measured by radio immunoassay, combined with clinical characteristics and 33 cases pathologic slice etc. The diagnostic of the indexes of serum was analyzed with statistics. RESULTS: HA and IV-C are parallel in chronic hepatitis periods. LN and PC III are concert in the same pathologic periods. In G4 period PC III is nearly closed with comparative group. The value of HA, LN, NV-C and PC III in the chronic hepatitis group was significantly higher than that in the normal comparative group. Conclusion The levels of serum HA LN IV-C and PC III are in concert with the degree of hepatic fibrosis, and these indexes are valuable for chronic hepatitis diagnoses combined with the clinic. LN and PC III are coincidence with hepatic fibrosis degree before G4 period.