A medical calculator to determine testicular volumes matching ultrasound values from the width of the testis obtained in the scrotum with a centimeter ruler.

The determination of the testicular volume is of considerable importance to assess the onset, progression and disorders of puberty, abnormal testicular development, and a number of other conditions; and in adults, assessment of fertility. A number of clinical methods have been used for the measurement of testicular volumes in the scrotum: a centimeter ruler, sliding calipers, and orchidometers. All the clinical methods calculate the volumes by the ellipsoid equation, grossly overestimate ultrasound (US) volumes by 70 to 80% for adults, to 150 to 250% for prepubertal subjects, mainly because the inclusion of the scrotal skin and epididymis and may not be accurate of reproducible. Ultrasound measurements have a high degree of accuracy and reproducibility and are the standard for quantitation of testicular volume. Formulas, equivalent to the ellipsoid equations used, were developed to match ultrasound volumes, with corrections of the width and length of the testis obtained in the scrotum, to avoid the inclusion of the scrotal skin (ss) and epididymis. A calculator was developed, requiring only the identification of ① the width of the testis in cm obtained in the scrotum with a ruler (without corrections) (i.e. 0.9, 1.5, 2.0, 2.4 cm etc.) and ② the stage of genital development. The calculator will subtract the scrotal skin for the stage of genital development, from the measurement of the width provided, apply the formula and identify the testicular volume of the subject that matches the US volume. The calculator will also provide, in a Table form, the values for the different stages of genital development. Benefit: The information provided by the calculator will solve the problem of overestimation by the orchidometers and the external measurements, problems with the reference of values to age, and Tanner stages, would permit assessment of the beginning and progression of puberty, of micro and macroorchidism, and other conditions mentioned.

Erratum to: Appraisal of testicular volumes: volumes matching ultrasound values referenced to stages of genital development.

[This corrects the article DOI: 10.1186/s13633-017-0046-x.].

Appraisal of testicular volumes: volumes matching ultrasound values referenced to stages of genital development.

BACKGROUND: Testicular volumes obtained with orchidometers or external linear measurements in the scrotum (centimeter ruler or calipers) grossly over-estimate ultrasound volumes, have much variability and may not be accurate or reproducible. The reference of the values obtained by orchidometers or US, to age or Tanner stages is not useful to determine the normal values for stages of puberty, because overlapping of ages and values. Pubertal development is determined by two events, genital and pubic hair development, that should be analyzed independently because one could be out of step with the other. The ultrasound (US) measurement of testicular volumes is the gold standard but is somewhat inconvenient, because it requires another procedure and, mainly, is costly. The solution of the problems would be to determine testicular volumes matching US values, from the width of the testis obtained in the scrotum with a centimeter ruler, by formulas recently described, and to reference them to the stages of genital development. METHODS: The width and length of the testes in the scrotum with a centimeter ruler were obtained in 159 study subjects, in different stages of genital development and adults, for a total of 318 testicular determinations, from the age of 3 to 34 years. The width obtained in the scrotum was corrected by subtracting the values of the double scrotal skin (ss). The formulas were then applied and the testicular volumes matching US values were calculated. The volumes and the range of ages for different stages of genital development were determined. Penile measurements were obtained in 145 subjects and pubic and other hair recorded. Paired and unpaired 2 tail student t-test was used to compare the means of the different groups expressed as means and SD and, in addition the Wilcoxon rank sum test and Bootstrap methods for the testicular volume groups. A p value of 0.05 or less was considered significant. The Institutional Review Board (IRB) of Nationwide Children's Hospital determined that this study did not require IRB approval. RESULTS: With a simple measurement of the width of the testis in the scrotum, with a centimeter ruler, testicular volumes matching US values were calculated and normative values for each stage of genital development were determined. CONCLUSION: This information should solve present problems.

Sotos syndrome 1 and 2.

Sotos syndrome, described in 1964, was characterized by overgrowth, a distinctive craniofacial configuration, and a non-progressive neurological disorder with mental retardation. There have been many developments since then and an update should be informative. The syndrome is associated with a number of abnormalities: brain, cardiac, urogenital, musculoskeletal (scoliosis), ophthalmologic, dental and neoplastic. It is a genetic disorder due to haploinsufficiency of the NSD1 gene (Nuclear receptor-binding SET Domain protein 1) on chromosome 5q35.2-35.3 in 90% of the patients: Sotos syndrome 1. Recently, heterozygous mutations in the NFIX gene (Nuclear Factor I, X type) on chromosome 19p13.3 were identified in a few children with the Sotos syndrome phenotype: Sotos syndrome 2. Genotype-phenotype correlations have been obtained. Many studies have been conducted to find out the functional pathway and the manner that the mutated genes altered transcription of other genes and the interaction with other proteins to generate the phenotype, but the functional pathway is largely unknown.

Growth hormone significantly increases the adult height of children with idiopathic short stature: comparison of subgroups and benefit.

BACKGROUND: Children with Idiopathic Short Stature do not attain a normal adult height. The improvement of adult height with treatment with recombinant human growth hormone (rhGH), at doses of 0.16 to 0.28 mg/kg/week is modest, usually less that 4 cm, and they remain short as adults. The benefit obtained seems dose dependent and benefits of 7.0 to 8.0 cm have been reported with higher doses of 0.32 to 0.4 mg/kg/week, but the number of studies is limited. The topic has remained controversial. OBJECTIVE: The objective was to conduct a retrospective analysis of our experience with 123 children with ISS treated with 0.32 ± 0.03 mg/kg/week of rhGH, with the aim of comparing the different subgroups of non-familial short stature, familial short stature, normal puberty, and delayed puberty and to assess the benefit by comparison with 305 untreated historical controls, from nine different randomized and nonrandomized controlled studies. RESULTS: Eighty eight of our children (68 males and 20 females) attained an adult height or near adult height of -0.71 SDS (0.74 SD) (95% CI, -0.87 to -0.55) with a benefit over untreated controls of 9.5 cm (7.4 to 11.6 cm) for males and 8.6 cm (6.7 to 10.5 cm) for females. In the analysis of the subgroups, the adult height and adult height gain of children with non-familial short stature were significantly higher than of familial short stature. No difference was found in the cohorts with normal or delayed puberty in any of the subgroups, except between the non-familial short stature and familial short stature puberty cohorts. This has implications for the interpretation of the benefit of treatment in studies where the number of children with familial short stature in the controls or treated subjects is not known. The treatment was safe. There were no significant adverse events. The IGF-1 values were essentially within the levels expected for the stages of puberty. CONCLUSION: Our experience was quite positive with normalization of the heights and growth of the children during childhood and the attainment of normal adult heights, the main two aims of treatment.

Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.

In 1979 a "new" syndrome characterized by X-linked inheritance, hypogonadism, gynecomastia, intellectual disability, obesity, and short stature was described. The now-36-year-old propositus was recently referred to the genetics clinic for profound intellectual disability. Fragile X testing initially demonstrated a duplication of the FMR1 region, and upon further testing we identified an Xq27.3-q28 8.05 Mb-long duplication responsible for a syndrome. Our report describes the molecular and clinical aspects of the X-linked syndrome. Our results suggest that male patients with intellectual disability, hypogonadism, short stature, and gynecomastia should be further investigated for rearrangements in the Xq27.3-q28 region. In the future, when more cases of the duplication are identified, it may become possible to more accurately determine the specific genes affected by overexpression and responsible for the phenotype.

Testicular volumes revisited: A proposal for a simple clinical method that can closely match the volumes obtained by ultrasound and its clinical application.

BACKGROUND: The testicular volumes obtained with the clinical methods, calculated using the ellipsoid equation W2 x L x π/6, correlate with those obtained by ultrasound (US) and are useful clinically, but overestimate ultrasound values, mainly because of the inclusion of the scrotal skin and epididymis, have much variability, and may not be accurate or reproducible.The US measurement is somewhat inconvenient, because it requires another procedure and, mainly, is costly.It would be helpful to have a simple, low cost clinical method that approximates or closely matches the results obtained by ultrasound.Formulas, equivalent to the ellipsoid equations, were developed to calculate testicular volumes with corrections of the width (W), length (L), and height (H) of the testis obtained in the scrotum to avoid the inclusion of the scrotal skin and epididymis. SUBJECTS & METHODS: The US observations in our hospital of the width, height, length, height/width, and length/width ratios and volumes of 110 testes from 55 children from 1 month to 17 ½ years of age were reviewed. Based on these observations and those reported by others, formulas to apply to the clinical measurements were developed to approximate the volumes obtained by ultrasound. The validity and accuracy of the formulas were determined. For the clinical application of the formulas, measurements of the width of the testis in the scrotum, with a centimeter ruler, were obtained in 187 study subjects in different stages of puberty and adults, for a total of 374 testicular determinations. RESULTS: The widths obtained in the scrotum were corrected by subtracting the values of the double scrotal skin. The formulas were then applied and the testicular volumes determined. The testicular volumes were then compared to the ultrasound values reported in hundreds of subjects by four different groups and statistically analyzed. The volumes obtained by the formulas (means ± SD) closely matched the volumes obtained by ultrasound. CONCLUSION: A simple clinical method, based on the width of the testis obtained in the scrotum with a centimeter ruler, which can determine testicular volumes closely matching those reported by ultrasound, is proposed.

Successful treatment of an invasive growth hormone-secreting pituitary macroadenoma in an 8-year-old boy.

We describe an 8 year-old boy with growth acceleration due to an invasive growth hormone (GH)-secreting pituitary macroadenoma who was successfully treated with the somatostatin analogue octreotide prior to transsphenoidal microsurgery. His tumor was resected completely and the patient remains in remission.