Evaluation of HE4, CA-125, risk of ovarian malignancy algorithm [ROMA] and risk of malignancy index [RMI] in the preoperative assessment of patients with adnexal mass

Objectives: To evaluate the validity and compare the performance of cancer antigen-125 [CA-125], human epididymis protein 4 [HE4], the risk of malignancy index [RMI], and the risk of ovarian malignancy algorithm [ROMA] in the diagnosis of ovarian cancer in patients with ovarian lesions discovered during their preoperative work-up investigations

Methods: This prospective, cross-sectional study looked at patients who attended the gynecology department at the Royal Hospital, Muscat, from 1 March 2014 to 30 April 2015, for the evaluation of an ovarian lesion. The inclusion criteria included women who underwent surgical intervention and who had a preoperative pelvic ultrasound with laboratory investigation for CA-125 and HE4. The study validated the diagnostic performance of CA-125, RMI, HE4, and ROMA using histopathological diagnosis as the gold standard

Results: The study population had a total of 213 cases of various types of benign [77%] and malignant [23%] ovarian tumors. CA-125 showed the highest sensitivity [79%] when looking at the total patient population. When divided by age, the sensitivity was 67% in premenopausal women. In postmenopausal women, CA-125 had lower sensitivity [89%] compared to RMI, HE4, and ROMA [93% each]. A high specificity of 90% was found for HE4 in the total patient population, 93% in premenopausal women and 75% in postmenopausal women. CA-125 had the highest specificity [79%] in postmenopausal women. Both CA-125 and RMI were frequently elevated in benign gynecological conditions particularly in endometriosis when compared to HE4 and ROMA. We also studied modifications of the optimal cut-offs for the four parameters. Both CA-125 and RMI showed a significant increase in their specificity if the cut-off was increased to >/= 60 U/mL for CA-125 and to >/= 250 for RMI. For HE4, we noted an improvement in its specificity in postmenopausal women when its cut-off was increased to140 pmol/L

Conclusions: HE4 and ROMA showed a very high specificity, but were less sensitive than CA-125 and RMI in premenopausal women. However, they were of comparable sensitivity in postmenopausal women and were valuable in distinguishing benign ovarian tumors or endometriosis from ovarian cancer. Modifying the cut-off values of the different markers resulted in a higher accuracy compared to the standard cut-offs, but at the expense of reduced sensitivity

novel mutation causing 17-beta-hydroxysteroid dehydrogenase type 3 deficiency in an Omani child: first case report and review of literature

This is the first case report in Oman and the Gulf region of a 17-beta-hydroxysteroid dehydrogenase type 3 [17-beta-HSD3] deficiency with a novel mutation in the HSD17B3 gene that has not been previously described in the medical literature. An Omani child was diagnosed with 17-beta-HSD3 deficiency and was followed up for 11 years at the Pediatric Endocrinology Clinic, Royal Hospital, Oman. He presented at the age of six weeks with ambiguous genitalia, stretched penile and bilateral undescended testes. Ultrasound showed no evidence of any uterine or ovarian structures with oval shaped solid structures in both inguinal regions that were confirmed by histology to be testicular tissues with immature seminiferous tubules only. The diagnosis was made by demonstrating low serum testosterone and high androstenedione, estrone, and androstenedione:testosterone ratio. Karyotyping confirmed 46,XY and the infant was raised as male. Testosterone injections [25 mg once monthly] were given at two and six months and then three months before his surgeries at five and seven years of age when he underwent multiple operations for orchidopexy and hypospadias correction. At the age of 10 years he developed bilateral gynecomastia [stage 4]. Laboratory investigations showed raised follicle-stimulating hormone, luteinizing hormone, androstenedione, and estrone with low-normal testosterone and low androstendiol glucurunide. Testosterone injections [50 mg once monthly for six months] were given that resulted in significant reduction in his gynecomastia. Molecular analysis revealed a previously unreported homozygous variant in exon eight of the HSD17B3 gene [NM_000197.1:c.576G>A.Trp192*]. This variant creates a premature stop codon, which is very likely to result in a truncated protein or loss of protein production. This is the first report in the medical literature of this novel HSD17B3 gene mutation. A literature review was conducted to identify the previous studies related to this disorder

Are tubes containing sodium fluoride still needed for the measurement of blood glucose in hospital laboratory practice?

To compare glucose values obtained using sodium flouride [NaF] tubes and serum separation tubes [SST] in a tertiary care hospital laboratory setting. This study was conducted at the Clinical Biochemistry Laboratory, Royal Hospital, Oman. During the study period [1 September-30 November 2013], 50 pairs [one NaF tube and one SST] of patient's blood specimens were randomly collected. Following separation of plasma [NaF tubes] and serum [SST], glucose concentrations were measured by hexokinase assay using the Architect c8000. Fifteen pairs of these tubes were kept in the refrigerator at 4°C and plasma/serum glucose concentrations were measured daily up to seven days after collection. Comparing plasma [NaF] and serum [SST] results of glucose values [n=50] showed an average difference of 0.00mmol/L [range -0.60 to +0.60mmol/L]. Bland Altman analysis gave a non-significant constant bias of 0.10 +/- 0.195mmol/L [bias +/- SD]. Pearson correlation between plasma [NaF] and serum [SST] glucose concentrations revealed a significant correlation approaching unity with r[2]= 0.9991. No significant differences in glucose values were noted for both plasma and serum in 15 pairs of NaF and SST tubes when analyzed seven days following refrigeration. Hemolysis was observed in five [10%] NaF tubes compared with two [4%] SST. There is no difference in glucose values collected from plasma NaF tubes or serum SST, and so SST can be used in hospital laboratory settings as there are practical advantages, including cost-effectiveness and reduction in blood volume drawn when utilizing these tubes for glucose and other tests from a single blood collection tube