Selection of Hormonal Reference Values for Undescended Testicle Case in 8-Year-Old Boy with Abnormal Chromosome

2021 ◽  
Vol 28 (1) ◽  
pp. 91
Author(s):  
Vina Corry ◽  
Merci M. Pasaribu
Keyword(s):  
Reference Values ◽  
Clinical Pathology ◽  
Tanner Stage ◽  
Chromosome Analysis ◽  
Reference Intervals ◽  
Undescended Testicle ◽  
Pediatric Endocrinology ◽  
Pathology Laboratory ◽  
Testosterone Levels ◽  
And Gender

Establishing the diagnosis of undescended testicles requires appropriate hormonal laboratory reference values basedon age and gender. An 8-year-old boy with an undescended testicle, mental retardation, and stunting had a blood test thatwas carried out at the Clinical Pathology Laboratory, dr. Cipto Mangunkusumo (RSCM) Hospital on February 6, 2020, withtestosterone levels of 0.69 nmol/L (N male: 4.94-32.01 nmol/L) indicating decreased testosterone levels. The patient wasconsulted from urological surgery to pediatric endocrinology to determine the presence or rudiment of the patient'stesticles. Using the reference range of testosterone values assists clinicians in determining the diagnosis, monitoringtherapy, and prognosis of a disease. There are some testosterone reference values, which are currently available, includingCanadian Laboratory Initiative on Pediatric Reference Intervals Database (CALIPER) and the Tanner stage reference value.Later is more applicable because it is based on chronological age and secondary sexual development in assessing pubertydevelopment. A case of an 8-year-old boy with a clinical diagnosis of an undescended testicle, the laboratory test resultsshowed normal-low testosterone levels using the CALIPER and Tanner stage ranges according to the patient's age. Noincrease of testosterone levels after the second HCG stimulation test might be due to differences in the HCG administrationprotocol; therefore, the diagnosis of anorchia had not been established, and chromosome abnormalities of 46 XY, +6 Mar,17 dmin on chromosome analysis suggested the suspected syndrome. These findings were consistent with the suspicion ofprimary hypogonadism in children with suspected syndrome caused by bilateral cryptorchidism with a suspectedseminiferous tubular defect.

COMPARISON OF ROUTINE HEMATOLOGY RESULTS BASED ON LOCAL LABORATORY REFERENCE VALUE AND SYSMEX KX-21 REFERENCE VALUE IN HASAN SADIKIN HOSPITAL BANDUNG

2015 ◽  
Vol 1 (2) ◽  
Author(s):  
Adrian Suhendra
Keyword(s):  
Reference Values ◽  
Japanese Population ◽  
Normal Population ◽  
Clinical Pathology ◽  
Reference Value ◽  
Pathology Laboratory ◽  
Cross Sectional ◽  
Value Range ◽  
The Subject ◽  
Local Laboratory

Various factors contribute to the routine hematology values in a healthy-looking person. Variability in analysis methods can also influence the results. However, all of the factors above can be standardized. Those variables have to be considered in determining hematology reference values. The aim of this research is to compare routine hematology results based on local RSHS Clinical Pathology laboratory with Sysmex KX-21 reference values in Medical Check Up (MCU) patients. Another aim is to determine own reference values of RSHS Clinical Pathology Laboratory. The subject of research is MCU patients who came to RSHS Clinical Pathology laboratory, Bandung, for medical check-ups and declared healthy by the internist, and meet the inclusion criteria. The method used is diagnostic test research with cross-sectional descriptive design. The result shows that routine hematology values range that is not too different from reference value range used for KX-21 in Japanese population. Nevertheless, the value range acquired in this research is closer to reference values in Wintrobe reference book. In conclusion, this research shows that routine hematology results of normal population in RSHS are closer to Wintrobe reference values compared to Sysmex KX-21 reference value in Japanese population.  Keywords : reference value range, MCU, Wintrobe, Sysmex KX-21

scholarly journals Normal Reference Intervals and the Effects of Time and Feeding on Serum Bile Acid Concentrations in Llamas

1998 ◽  
Vol 10 (2) ◽  
pp. 174-178 ◽  
Author(s):  
Claire B. Andreasen ◽  
Erwin G. Pearson ◽  
Brad B. Smith ◽  
Terry C. Gerros ◽  
E. Duane Lassen
Keyword(s):  
Bile Acid ◽  
Age Groups ◽  
Clinical Pathology ◽  
Reference Interval ◽  
Reference Intervals ◽  
Time Of Day ◽  
Serum Bile Acid ◽  
Serum Samples ◽  
Pathology Laboratory ◽  
Significant Difference

Fifty clinically healthy llamas, 0.5–13 years of age (22 intact males, 10 neutered males, 18 females), with no biochemical evidence of liver disease or hematologic abnormalities, were selected to establish serum bile acid reference intervals. Serum samples submitted to the clinical pathology laboratory were analyzed using a colorimetric enzymatic assay to establish bile acid reference intervals. A nonparametric distribution of llama bile acid concentrations was 1–23 μmol/liter for llamas >1 year of age and 10–44 μmol/liter for llamas ≤1 year of age. A significant difference was found between these 2 age groups. No correlation was detected between gender and bile acid concentrations. The reference intervals were 1.1–22.9 μmol/liter for llamas >1 year of age and 1.8–49.8 μmol/liter for llamas ≤1 year of age. Additionally, a separate group of 10 healthy adult llamas (5 males, 5 females, 5–11 years of age) without biochemical or hematologic abnormalities was selected to assess the effects of feeding and time intervals on serum bile acid concentrations. These 10 llamas were provided fresh water and hay ad libitum, and serum samples were obtained via an indwelling jugular catheter hourly for 11 hours. Llamas were then kept from food overnight (12 hours), and subsequent samples were taken prior to feeding (fasting baseline time, 23 hours after trial initiation) and postprandially at 0.5, 1, 2, 4, and 8 hours. In feeding trials, there was no consistent interaction between bile acid concentrations and time, feeding, or 12-hour fasting. Prior feeding or time of day did not result in serum bile acid concentrations outside the reference interval, but concentrations from individual llamas varied within this interval over time.

scholarly journals Indispensability of Clinical Bioinformatics for Effective Implementation of Genomic Medicine in Pathology Laboratories

ACI Open ◽  
2020 ◽  
Vol 04 (02) ◽  
pp. e167-e172
Author(s):  
Srikar Chamala ◽  
Siddardha Majety ◽  
Shesh Nath Mishra ◽  
Kimberly J. Newsom ◽  
Shaileshbhai Revabhai Gothi ◽  
...  
Keyword(s):  
Patient Care ◽  
Clinical Laboratory ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Clinical Pathology ◽  
Genetic Mutation ◽  
Genomic Research ◽  
Pathology Laboratory ◽  
Clinical Bioinformatics ◽  
Effective Implementation

AbstractPatient care is rapidly evolving toward the inclusion of precision genomic medicine when genomic tests are used by clinicians to determine disease predisposition, prognosis, diagnosis, and improve therapeutic decision-making. However, unlike other clinical pathology laboratory tests, the development, deployment, and delivery of genomic tests and results are an intricate process. Genomic technologies are diverse, fast changing, and generate massive data. Implementation of these technologies in a Clinical Laboratory Improvement Amendments-certified and College of American Pathologists-accredited pathology laboratory often require custom clinical grade computational data analysis and management workflows. Additionally, accurate classification and reporting of clinically actionable genetic mutation requires well-curated disease/application-specific knowledgebases and expertise. Moreover, lack of “out of the box” technical features in electronic health record systems necessitates custom solutions for communicating genetic information to clinicians and patients. Genomic data generated as part of clinical care easily adds great value for translational research. In this article, we discuss current and future innovative clinical bioinformatics solutions and workflows developed at our institution for effective implementation of precision genomic medicine across molecular pathology, patient care, and translational genomic research.

scholarly journals Reference values of plasma homocysteine in Cuban children and adults

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Alina Concepción Alvarez ◽  
Ivette Camayd Viera ◽  
Lisy Vento Buigues ◽  
Yanet Fernández Martínez ◽  
Eraida Hernández ◽  
...  
Keyword(s):  
Reference Values ◽  
High Performance ◽  
Age Groups ◽  
Coffee Consumption ◽  
Reference Interval ◽  
Reference Intervals ◽  
Multifactorial Diseases ◽  
Weak Association ◽  
Different Populations ◽  
Cuban Population

AbstractObjectivesHomocysteine (Hcy) is a nonessential amino acid, produced by the demethylation of methionine. High Hcy levels, or hyperhomocysteinemia, have been associated with genetic and multifactorial diseases. Hcy reference values may vary between different populations, as Hcy levels are affected by factors such as sex, age, diet, smoking, and coffee consumption. The estimation reference interval (RI) allows to establish the normal values of this marker in population. At present, these levels are unknown in Cuba. The aim of this work is to estimate the Hcy reference intervals in Cuban children and adults.MethodsTotal Hcy concentration was quantified by high performance liquid chromatography (HPLC) in plasma. Hcy levels were evaluated in samples from 507 healthy individuals (260 children, 247 adults).ResultsRIs were estimated by nonparametric methods. We found significant differences between both age groups, but we did not find significant differences between sexes, within these groups. The established ranges were 2.56–14.55 µM and 3.63–17.19 µM for children and adults, respectively. Also, we observed a weak association between Hcy levels and age in both sex groups.ConclusionsThis is the first study that assesses Hcy reference values in Cuban population. Our results will allow the introduction of Hcy as a biochemical marker in laboratory testing.

scholarly journals “Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”

Endocrine ◽  
2021 ◽  
Author(s):  
Gerdi Tuli ◽  
Jessica Munarin ◽  
Alessandro Mussa ◽  
Diana Carli ◽  
Roberto Gastaldi ◽  
...  
Keyword(s):  
Head Circumference ◽  
Thyroid Disease ◽  
Pediatric Population ◽  
Brain Mri ◽  
Follicular Adenoma ◽  
Pten Gene ◽  
Pediatric Endocrinology ◽  
Benign Thyroid Disorders ◽  
And Gender ◽  
Benign Thyroid

Abstract Purpose To report the incidence of 4–12% of differentiated thyroid cancer (DTC) and up to 50% of benign thyroid nodular disease and to describe nodular thyroid disease in a multicentre pediatric population with PTEN mutations. Methods: Retrospective data of pediatric patients with PTEN mutations collected from tertiary Departments of Pediatric Endocrinology of Turin, Milan and Genua, Italy, in the period 2010–2020. Results Seventeen children with PTEN mutations were recruited in the study. Thyroid involvement was present in 12/17 (70.6%) subjects, showing a multinodular struma in 6/17 (35.3%), nodules with benign ultrasound features in 5/17 (29.4%) and a follicular adenoma in 1/17 (6%). No correlation was found between thyroid disease and gender, puberty, vascular manifestations, delayed development, or brain MRI abnormalities, while multiple lipomas were associated with thyroid disease (p = 0.03), as was macrocephaly. Standard Deviation (SD) score head circumference was 4.35 ± 1.35 cm in subjects with thyroid disease, 3 ± 0.43 cm (p = 0.02) in the group without thyroid disease. Thyroid involvement was present in all subjects with mutations in exon 6 (4/4) and exon 8 (3/3) of the PTEN gene (p = 0.02). Conclusion In the presented cohort, benign thyroid disorders were prevalent, with no evidence of DTC. A correlation was found between thyroid lesions and head circumference and the occurrence of multiple lipomas. Future studies in larger cohorts should assess whether risk stratification is needed when recommending surveillance strategies in children or young adolescents with PTEN hamartoma syndrome.

Reference intervals of spinal mobility measures in normal individuals: the mobility study

2014 ◽  
Vol 74 (6) ◽  
pp. 1218-1224 ◽  
Author(s):  
Sofia Ramiro ◽  
Astrid van Tubergen ◽  
Carmen Stolwijk ◽  
Désirée van der Heijde ◽  
Patrick Royston ◽  
...  
Keyword(s):  
Axial Spondyloarthritis ◽  
Cross Sectional Study ◽  
Reference Intervals ◽  
Spinal Mobility ◽  
Cross Sectional ◽  
Percentile Curves ◽  
Normal Individuals ◽  
And Gender ◽  
Gender Specific ◽  
Spinal Flexion

ObjectivesTo establish reference intervals (RIs) for spinal mobility measures as recommended for patients with axial spondyloarthritis, and to determine the effect of age, height and gender on spinal mobility, in normal individuals.MethodsA cross-sectional study (MOBILITY) was conducted among normal individuals aged 20–69 years. Recruitment was stratified by gender, age (10-year categories) and height (10 cm categories). Eleven spinal mobility measures were assessed. Age specific RIs and percentiles were derived for each measure.Results393 volunteers were included. All spinal mobility measures decreased with increasing age. Therefore, age specific RIs were developed. The 95% RIs (2.5th and 97.5th percentiles), as well as the 5th, 10th, 25th, 50th, 75th and 90th percentiles for each spinal mobility measure and different ages are presented. Mobility percentile curves were also plotted for each of the measures. For instance, the 95% RI for lateral spinal flexion was 16.2–28.0 cm for a 25-year-old subject, 13.2–25.0 cm for a 45-year-old subject and 10.1–21.9 cm for a 65-year-old subject. After adjustment for age, there was no need for gender specific RIs, while RIs of some measures are height-adjusted.ConclusionsAge specific RIs and percentiles were derived for each of the spinal mobility measures for normal individuals. These may guide clinicians when assessing the mobility of patients with axial spondyloarthritis. The RIs may serve as cut-off levels for ‘normal’ versus ‘abnormal’, whereas the mobility percentile curves may be used to assess the level of mobility of patients with axial spondyloarthritis.

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