Healthy Boy Research Articles

Late emergency cervical cerclage placement in a patient with early recurrent pregnancy loss and bicorporeal uterus: A case report

Introduction: Uterine Müllerian anomalies are relatively common among the population, affecting approximately 4% of women, and can lead to various pregnancy-related pathologies. Cervical cerclage, a surgical procedure involving the placement of a stitch around the cervix, has been recognized as an optional treatment to mitigate the risk factors associated with these anomalies. Case Report: A 33-year-old woman with a bicorporeal uterus and a history of early recurrent pregnancy loss, who was diagnosed with a cervical os shortening during her second anatomy screening at 22+3 weeks gestation. A cervical cerclage was performed to prevent preterm delivery, and subsequently. An elective cesarean section was conducted at 37+0 weeks of gestation, resulting in the birth of a healthy baby boy. Conclusion: Although the literature about the effectiveness of cervical cerclage in pregnant women with Müllerian anomalies is limited, this case highlights its potential as an effective treatment option.

Serum Biomarker Analysis in Pediatric ADHD: Implications of Homocysteine, Vitamin B12, Vitamin D, Ferritin, and Iron Levels.

The current diagnosis of attention deficit hyperactivity disorder (ADHD) is based on history, clinical observation, and behavioral tests. There is a high demand to find biomarkers for the diagnosis of ADHD. The aim of this study is to analyze the serum profiles of several biomarkers, including homocysteine (Hcy), vitamin B12, vitamin D, ferritin, and iron, in a cohort of 133 male subjects (6.5-12.5 years), including 67 individuals with an ADHD diagnosis based on DSM-V criteria and 66 age-matched healthy boys (healthy controls, HC). Assessments for ADHD included the Iowa Conners' Teacher Rating Scale (CPRS) and the ADHDT test, as well as cognitive assessments using the Wechsler Intelligence Scale for Children-Revised (WISC-R) and the TROG-2 language comprehension test. Hcy and iron were quantified using spectrophotometry, while vitamin B12 and total 25-hydroxy vitamin D levels were determined using an electrochemiluminescence immunoassay (ECLIA) and ferritin was measured using a particle-enhanced immunoturbidimetric assay. The results showed significantly increased Hcy levels and decreased vitamin B12 levels in ADHD patients compared to HCs. Multiple logistic regression analysis indicated that Hcy is a potential prognostic indicator for ADHD. These results suggest that elevated homocysteine and decreased vitamin B12 may serve as markers for the diagnosis and prognosis of ADHD.

A multi-site cultural and linguistic adaptation of a hypospadias decision aid for Latinx communities

Latinx, Spanish-speaking (LSS) patients are more likely to experience decisional conflict and regret about healthcare decisions than non-Hispanic, white, English-speaking patients. To adapt the Hypospadias Hub (Hub), a rigorously developed and tested web-based decision aid (DA), for LSS parents. Guided by the Ecological Validity Model (EVM), a heuristic framework was followed to culturally adapt the Hub (see Extended Summary Figure). In stage 1, recommendations were obtained from a focus group with members of the institution's Latinx Community Review Board (Latinx CRB) and semi-structured interviews with pediatricians with Latinx-focused practices. In stage 2, preliminary cultural modifications were made, the Hub was translated into Spanish, and a second focus group with the Latinx CRB was convened to review the revised Hub. In stage 3, semi-structured interviews with LSS parents of healthy boys (i.e., without hypospadias)≤5 years old were conducted to identify any cultural adaptations and/or usability issues regarding the revised Hub. In stage 4, based on parents' feedback, final revisions to the Hub were made. The focus groups and parent interviews were conducted in Spanish; then, the recordings were professionally transcribed in Spanish and translated into English. Interviews with pediatricians were conducted in English; then, the recordings were professionally transcribed. Three coders conducted a qualitative content analysis to identify areas for revision. Changes were applied iteratively. Participants included 3 Latinx CRB members (2 women, 1 did not disclose gender; mean age=48.3, SD=21.2), 3 non-Latinx pediatricians (2 women, 1 man; mean age=49.6, SD=9.1), and 5 Latinx mothers (mean age=34.0, SD=1.26). Participants recommended: 1) featuring video testimonials from Latinx families or including Spanish voice-overs/subtitles; 2) diversifying racial/ethnic/geographic representation and including extended families in photographs/illustrations; 3) adding information about health insurance coverage and circumcision, 4) reassuring parents that the condition is not their fault, 5) considering cultural values (e.g., reliance on expert advice), and 6) clarifying medical terminology. Feedback related to seven EVM dimensions: concepts, content, context, goals, language, metaphors, and methods. Participants perceived the Hub to be informative in guiding parents' treatment decisions. Revisions were reasonable and acceptable for a linguistic and cultural adaptation for LSS parents. We identified and implemented preliminary cultural modifications to the Hub and applied user-centered design methods to test and revise the website. The product is a culturally appropriate DA for LSS parents. Next, English and Spanish-versions of the Hub will be tested in a randomized controlled trial.

PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases.

To present the developed preimplantation genetic testing (PGT) for spinocerebellar ataxia type 1 (SCA1) and the outcomes of IVF with PGT. PGT was performed for two unrelated couples from the Republic of Sakha (Yakutia) with the risk of SCA1 in one spouse. We have developed a system for PGT of a monogenic disease (PGT-M) for SCA1, which includes the analysis of a panel of 11 polymorphic STR markers linked to the ATXN1 gene and a pathogenic variant of the ATXN1 gene using nested PCR and fragment analysis. IVF/ICSI programs were performed according to standard protocols. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) and array comparative genomic hybridization (aCGH) for aneuploidy testing (PGT-A). Eight STRs were informative for the first couple and ten for the second. Similarity of the haplotypes carrying pathogenic variants of the ATXN1 gene was noted. In the first case, during IVF/ICSI-PGT, three embryos reached the blastocyst stage and were biopsied. One embryo was diagnosed as normal by maternal STR haplotype and the ATXN1 allele. PGT-A revealed euploidy. The embryo transfer resulted in a singleton pregnancy, and a healthy boy was born. Postnatal diagnosis confirmed normal ATXN1. In the second case, two blastocysts were biopsied. Both were diagnosed as normal by PGT-M, but PGT-A revealed aneuploidy. Birth of a healthy child after PGT for SCA1 was the first case of successful preimplantation prevention of SCA1 for the Yakut couple and the first case of successful PGT for SCA1 in Russia.

A case of vaginal varicosities without rupture after vaginal delivery

HIGHLIGHTS Vaginal varicosities are prone to happen in pregnant women with unspecific causes and multifactorial. The mode of delivery in a pregnant woman with vaginal varicosities is still unknown, but it is not an indication of caesarean section. ABSTRACT Objective: Vaginal varicose is a rare condition characterized by dilated veins in the labia majora, labia minora, and vagina. This case report reported a woman with vaginal varicose who experienced labor without any delivery complications. Case Report: The patient, a 29-year-old woman, gravida 3, para 2, presented with discomfort and swelling in the vagina at 32 weeks of gestational age. Despite reaching 39 weeks of gestation, the vaginal varicosities remained stable and painless. She had no prior history of varicose veins, hypertension, blood abnormalities, malignancy, or contraception usage. Physical examination revealed mild varicosities in the labium and significantly swollen varicosities protruding toward the vaginal introitus. Interestingly, a small varicose vein was also noted on her right leg, previously unnoticed by the patient. At 39 weeks pregnant, she experienced spontaneous vaginal delivery without complications. During the third stage of labor, the vaginal varicosities decreased in size, and no rupture occurred. The newborn, a healthy baby boy weighing 2961 grams and measuring 48 cm, was delivered vaginally. Despite a second-degree perineal tear, blood loss was minimal, and no complications nor rupture arose from the varicose veins. Conclusion: Vaginal varicosities are rare, primarily occurring in multigravida pregnant women between 12 and 26 weeks of gestation. This case highlights that cesarean section is not necessarily indicated in pregnant women with vaginal varicosities. The successful vaginal delivery in this instance resulted in no varicose vein rupture, controlled bleeding, and regression of vaginal varicosities postpartum.

Application of Near-infrared reflectance spectroscopy in the diagnosis of varicocele in children and adolescents

Varicocele is a venous anomaly characterized by the enlargement of the plexus of veins in the testicle. In pediatric cases, indications for surgical intervention in varicocele include palpable dilatation of the enlargement of the plexus veins, intermittent pain in the ipsilateral testicle, and a 20% reduction in size of the ipsilateral testicle compared to the contralateral healthy one. The limitations of evaluating these criteria and the need to assess semen parameters prompt clinicians to explore new diagnostic methods for timely surgical interventions in adolescents. One such promising study involves Near-infrared reflectance spectroscopy (NIRS) in the Near-infrared range. The aim of the research is to evaluate the diagnostic capabilities of NIRS in children with varicocele to determine the indications for surgical intervention. The study included 65 boys aged 11 to 17 years with left-sided grade III varicocele (main group) and 29 healthy boys as a control group. Monitoring of regional oxygen saturation (rSO2) of testicular tissues was conducted using optical spectroscopy. NIRS examination of testicular tissues in both study and control groups showed statistically homogeneous data for regional oxygen saturation in the healthy (right) testicle. However, the NIRS study revealed significantly lower oxygen saturation (rSO2) in the testicular tissue of the left testicle in patients with varicocele compared to the control group. The diagnostic significance of the difference in bilateral NIRS monitoring Δ rSO2 >13% reliably characterized the presence of testicular hypotrophy by more than 20% compared to the healthy contralateral side (AUC=0.64, 95% CI (0.505-0.775), sensitivity – 79%, specificity – 50%, p=0.042). Δ rSO2 >11% values indicated disturbances in spermogram related to oxidative stress (AUC=0.702, 95% DI (0.51-0.88), sensitivity – 82%, specificity – 61%, p=0.031). Therefore, NIRS study data have potential valuable information for the diagnosis and selection of treatment for varicocele in children. The research utilizing Near-infrared Reflectance Spectroscopy revealed a significant potential of this method for diagnosing and assessing the impact of varicocele on the microcirculation of testicular tissue in children. The diagnostic significance of the difference in bilateral monitoring using this non-invasive technique in determining the state of testicles and the possibility of addressing the question of the necessity of surgical intervention is established.

Tackling access and payer barriers for growth hormone therapy in Saudi Arabia: a consensus statement for the Saudi Working Group for Pediatric Endocrinology.

Prompt diagnosis and early treatment are key goals to optimize the outcomes of children with growth hormone deficiency (GHD) and attain the genetically expected adult height. Nonetheless, several barriers can hinder prompt diagnosis and treatment of GHD, including payer-related issues. In Saudi Arabia, moderate-to-severe short stature was reported in 13.1 and 11.7 % of healthy boys and girls, respectively. Several access and payer barriers can face pediatric endocrinologists during the diagnosis and treatment of GHD in Saudi Arabia. Insurance coverage policies can restrict access to diagnostic tests for GHD and recombinant human growth hormone (rhGH) due to their high costs and lack of gold-standard criteria. Some insurance policies may limit the duration of treatment with rhGH or the amount of medication covered per month. This consensus article gathered the insights of pediatric endocrinologists from Saudi Arabia to reflect the access and payer barriers to the diagnostic tests and treatment options of children with short stature. We also discussed the current payer-related challenges endocrinologists face during the investigations of children with short stature. The consensus identified potential strategies to overcome these challenges and optimize patient management.

First report on successful delivery after retransplantation of vitrified, rapid warmed ovarian tissue in Europe

Research questionCryopreservation of ovarian tissue is one feasible option to preserve female fertility prior to cancer treatment. The slow freezing protocol represents the current standard approach, while vitrification has been suggested as a promising alternative. This paper reports the follow-up and first successful delivery after retransplantation of vitrified, rapid warmed ovarian tissue in Europe. DesignAfter the patient received a diagnosis of breast cancer, ovarian tissue was removed laparoscopically and sent via overnight transportation to University Hospital Bonn for vitrification on site. The patient was treated with chemotherapy, leading to ovarian failure. After 2 years, retransplantation of the vitrified, rapid warmed tissue was conducted on site. ResultsTwo months after grafting, the patient reported regular menstrual cycles. After 1 further month a clinical pregnancy occurred, which ended in a spontaneous abortion at the 8th week of pregnancy. Six months after grafting, another naturally conceived pregnancy was determined, resulting in the birth of a healthy boy 14 months after retransplantation of the ovarian tissue. ConclusionsComplementing the successful deliveries reported by the groups of Suzuki (Japan) and Silber (USA) regarding vitrified tissue, the current results confirm the high potential of this cryopreservation method in a clinical routine setting as an alternative approach to the widespread slow freezing method.

Characteristics and changes of cardiac injury with age in children of Duchenne muscular dystrophy: a prospective cohort study

Objective: To explore the characteristics and changes of cardiac injury with age in Duchenne muscular dystrophy (DMD) and its clinical significance. Methods: A prospective cohort study was conducted. The 215 patients diagnosed with DMD in West China Second Hospital from January 2019 to November 2022 and aged from 6 to 18 years were enrolled. Their clinical data, myocardial injury markers, routine electrocardiogram, cardiac magnetic resonance (CMR) and echocardiography were collected. The patients were divided into five age groups: 6-<8, 8-<10, 10-<12, 12-<14 and 14-18 years of age, and matched with healthy boys respectively. Independent sample t test or Mann-Whitney U test was used to compare the clinical data and CMR indexes between DMD patients and controls in all age subgroups, and to compare the value of left ventricular ejection fraction (LVEF) measured by echocardiography and CMR in each subgroup of DMD patitents. Pearson correlation analysis or Spearman correlation analysis was used to explore the relation between the CMR indexes and age in DMD patients. Results: A total of 215 patients with DMD (all male) and 122 healthy boys were included in the study. There were 75 DMD patients and 23 controls in 6-<8 years of age group, 77 DMD and 28 controls in 8-<10 years of age group, 39 DMD and 23 controls in 10-<12 years of age group, 10 DMD and 31 controls in the 12-<14 years of age group, and 14 DMD and 17 controls in 14-18 years of age group. In the DMD patients, the older the age, the lower the levels of creatine kinase (CK) and creatine kinase isoenzyme (CK-MB). In the 6-<8 years of age group, the CK level was 10 760 (7 800, 15 757) U/L, while in the group of 14-18 years of age, it was 2 369 (1 480, 6 944) U/L. As for CK-MB, it was (189±17) μg/L in the 6-<8 years of age group and (62±16) μg/L in the 14-18 years of age group. Cardiac troponin I remained unchanged in <12 years of age groups, but significantly increased in 12-<14 years of age group, reaching the highest value of 0.112 (0.006, 0.085) μg/L. In the DMD patients, the older the age, the higher the proportion of abnormal electrocardiogram (ECG). In the 6-<8 years of age group, the proportion is 29.3% (22/75), while in the 14-18 years of age group, it was 10/14. Correlation analysis showed that the left ventricular end-diastolic volume index was positively related with age (r=0.18, P=0.015), and the left ventricular stroke volume index and cardiac output index were negatively related with age (r=-0.34 and -0.31, respectively, both P<0.001). In the DMD patients, the older the age, the lower LVEF, with the LVEF decreasing to (49.3±3.1)% in the 14-18 years of age group. The LVEF of DMD cases was significantly lower than that of controls in the age subgroups of 8-<10, 10-<12, 12-<14 and 14-18 years of age groups ((57.9±5.2) % vs. (63.6±0.8)%, 60.7% (55.9%, 61.9%) vs. 63.7% (60.2%, 66.0%), 57.1% (51.8%, 63.4%) vs. 62.1 % (59.5%, 64.5)%, (49.3±3.1) % vs. (61.6±1.3)%, respectively; all P<0.01). In the DMD patients, the older the age, the higher the proportion of positive late gadolinium enhancement (LGE). In the 6-<8 years of age group, it was 22% (11/51), in the 12-<14 years of age group, it was 13/14, and in the 14-18 years of age group, all DMD showed positive LGE. The value of LVEF of DMD cases measured by echocardiography was significantly higher than that measured by CMR in 6-<8 years of age group and 8-<10 years of age group (63.2% (60.1%, 66.4%) vs. 59.1 % (55.4%, 62.9%), and (62.8±5.2) % vs. (57.9±5.2)%, all P<0.001). Conclusion: DMD patients develop cardiac injury in the early stage of the disease, and the incidence of cardiac damage gradually increases with both age and the progression of disease.

Epidemic management in a measles outbreak in 2023, the return of vaccine–preventable diseases: A single center, retrospective observational study

Objective: To investigate the importance of immunization in preventing measles infection and to determine the most useful laboratory tests for confirmation of measles. Methods: This study included pediatric cases evaluated with a presumed diagnosis of measles between December 2022 and June 2023, at Marmara University Pendik Training and Research Hospital. The effects of vaccination status and underlying disease on the clinical course, treatments, and complications were evaluated. Results: In total, 117 patients were enrolled in the study with a median age of 80 months (IQR: 32.5-125.0). Twelve patients with contact history were asymptomatic and had an underlying disorder, and intravenous immunoglobulin was given to them for post-exposure prophylaxis. Fifty-one patients had confirmed measles diagnosis. Ribavirin treatment was given to three patients (a newborn, a girl with rhabdomyosarcoma, and a healthy boy) with respiratory distress. Seventy-eight percent of confirmed measles cases were unvaccinated, and all hospitalized cases were unvaccinated or under-vaccinated. Four full-vaccinated children had confirmed measles infection. Measles PCR from nasopharyngeal swabs was negative in all of them, and their diagnosis was established with anti-measles IgM positivity. Conclusions: The measles vaccine is the most effective way to protect from measles and measles-related complications. Although measles can also occur in fully vaccinated patients, the disease is milder than in unvaccinated patients. Using ELISA and RT-PCR tests together may be beneficial in patients with high clinical suspicion for early diagnosis.

Relationship between FEV1/FVC and age in children with asthma.

Forced expiratory volume in the first second (FEV1)/forced vital capacity (FVC) normally decreases through childhood, increases briefly during early adolescence, and then declines throughout life. The physiology behind this temporary increase during early adolescence is not well understood. The objective of this study was to determine if this pattern occurs in children with asthma. Single-center, cross-sectional, retrospective analysis of pulmonary function tests obtained over a 5-year period in children 5-18 years of age with persistent asthma. A total of 1793 patients satisfied all inclusion and exclusion criteria. The mean age (±SD) was 10.4 ± 3.8 years. Forty-eight percent were female. Mean FEV1/FVC was 0.83 ± 0.09. FEV1/FVC was lower at 5 years of age than in healthy children, declined from age 5 to 11 by 5.7% compared to 7.3% in healthy girls, and 5.8% compared to 9.4% in healthy boys. FEV1/FVC increased in early adolescence, but at age 16, was 5.6% lower in male children compared to healthy children, and 5.4% lower in females. The ratio was lower in obese children at all ages but demonstrated the same curvilinear shape as healthy children. In absolute terms, FEV1 grew proportionately more than FVC during early adolescence, so the ratio of FEV1/FVC increased during that period. The curvilinear shape of the curve remained in postbronchodilator testing, though significantly blunted. FEV1/FVC is lower in children with persistent asthma than healthy children, but the "Shepherd's Hook" pattern is preserved. This was true in obese patients with asthma, although their FEV1/FVC ratios were lower throughout all stages of childhood and adolescence.

Positive Pregnancy Outcome following First Trimester Dulaglutide Exposure in a Women with Type 2 Diabetes and PCOS: A Case Report

Background: Insulin has been the gold standard treatment for T2DM during pregnancy. However, emerging studies indicate that GLP-1 agonists have shown significant improvement in insulin resistance. Despite promising results, research conducted on pregnant animal models has shown fetal developmental defects associated with GLP-1 agonists. There is scarcity of research conducted on the use of GLP-1 agonists in human pregnancies. This case report describes the exposure to dulaglutide (GLP-1 agonist) during first trimester of pregnancy. Case: A 41-year-old female with type 2 diabetes mellitus and polycystic ovarian syndrome had been taking dulaglutide until 15 weeks of gestation. She delivered a healthy baby boy via cesarean delivery at 36 weeks’ gestation. Conclusion: In our case, exposure to dulaglutide during the first trimester showed no significant developmental effects on the baby. However, current research is insufficient to categorize GLP-1 agonists as safe during pregnancy.

Serum levels of glucose, thyroid stimulating hormone, and free thyroxine in boys diagnosed with attention deficit hyperactivity disorder: a cross-sectional pilot study

BackgroundAlthough attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder, its aetiology remains unclear. We aimed to establish a relationship between ADHD diagnosis and serum levels of glucose, free thyroxine (FT4), and thyroid stimulating hormone (TSH) in primary school aged boys.MethodsIn a cross-sectional study, we enrolled 133 participants aged 6.5–12.5 years, 67 of whom met DSM-5 criteria for ADHD and 66 healthy age-matched boys. The ADHDT test (ADHDT) was used to assess ADHD symptoms and the Wechsler Intelligence Scale for Children – Revised was used to exclude participants with cognitive deficits. The ADHD participants were tested using the Iowa Conners’ Teacher Rating Scale.ResultsThe ADHD participants had lower glucose levels, higher TSH values, and significantly lower FT4 values than the control group. The multiple logistic regression analysis showed that TSH is a parameter that is 2.7% more likely to occur in the ADHD group. We found a significant correlation between the TSH level and the symptoms of hyperactivity (r = 0.318, p = 0.009) and impulsivity (r = 0.275, p = 0.024) as well as between the glucose level and the symptoms of hyperactivity (r = 0.312, p = 0.010).ConclusionsCertain ADHD symptoms may correlate with certain hormonal patterns. Our results suggest that the likelihood of suffering from ADHD was lower when FT4 levels were elevated. One biochemical parameter that was significantly and independently associated with the diagnosis of ADHD was the serum TSH level.Trial registrationOn June 26, 2018, at its VI session in 2018, the Ethics Committee of the Institute for Mental Health in Belgrade, Serbia, has considered and unanimously approved the conduct of the research, under the number 1704/1.

Anogenital distance in a cohort of 169 infant boys with uni- or bilateral cryptorchidism including 18 boys with vanishing testes.

Do different boys with different types of cryptorchidism exhibit different anogenital distances (AGDs)? Length of AGD seemed to differ in different groups of patients with cryptorchidism. AGD, which is used as an indicator of prenatal androgen action, tends to be shorter in boys with cryptorchidism compared to unaffected boys. Shorter AGDs have also been reported in boys with hypospadias, in men with poor semen quality, and in men with testicular cancer. A prospective descriptive cohort study was performed using data from consecutively selected boys with cryptorchidism (n = 169) operated in a single center over a period of 3 years (September 2019 to October 2022). AGD was measured in 169 infant boys, at 3 to 26 months of age, during anesthesia with a vernier caliper measuring the distance from the anus to the base of the scrotum (AGDAS) and from the anus to the anterior base of the penis (AGDAP) in two body positions according to the methods by 'The Infant Development and the Environment Study' (TIDES) and 'Cambridge Baby Growth Study', resulting in four mean values per patient (TIDES AGDAS/AP and Cambridge AGDAS/AP). Normal values for AGD by age were set by our hospital Department of Growth and Reproduction based on a large cohort of healthy infant boys (n = 1940). Testicular biopsies were performed at orchidopexy as a clinical routine. The germ cell number (G/T) and type Ad spermatogonia number (AdS/T) per cross-sectional tubule of at least 100 and 250 tubules, respectively were measured and related to normal samples. Blood samples were obtained by venipuncture for measuring serum LH, FSH, and inhibin B. They were analyzed in our hospital Department of Growth and Reproduction where the normal reference was also established. Correlations between the four mean AGD measurements for each boy were evaluated by Spearman rank correlation analyses. The AGD measurement of every boy was transferred to the multiple of the median (MoM) of the normal AGD for age and named MoM AGD. There were 104 boysoperated for unilateral, and 47 boys operated for bilateral, undescended testes, whereas 18 boys had vanished testis including one boy with bilateral vanished testes. Only 6% of cases with vanished testes had a MoM AGD higher than the normal median compared to 32% with undescended testes (P < 0.05). MoM AGD increased with the age at surgery for boys with vanished testis (Spearman r = 0.44), but not for boys with undescended testes (Spearman r = 0.14). Boys with bilateral cryptorchidism had longer AGDs and more often had hypogonadotropic hypogonadism than boys with unilateral cryptorchidism (P < 0.005) and (P < 0.000001). Although being the largest published material of AGD measurements of infant boys with cryptorchidism, one limitation of this study covers the quite small number of patients in the different groups, which may decrease the statistical power. Another limitation involves the sparse normal reference material on G/T and AdS/T. Finally, there are currently no longitudinal studies evaluating AGD from birth to adulthood and evaluating childhood AGD in relation to fertility outcome. Our study is hypothesis generating and therefore the interpretation of the results should be regarded as exploratory rather than reaching definite conclusions. The study findings are in agreement with literature as the total included group of boys with cryptorchidism exhibited shorter than normal AGDs. However, new insights were demonstrated. Boys with vanished testis had shorter AGDs compared to unaffected boys and to boys with undescended testes. This finding challenges the current concept of AGD being determined in 'the masculinization programming window' in Week 8 to 14 of gestation. Furthermore, boys with bilateral cryptorchidism had longer AGDs and more often had hypogonadotropic hypogonadism than boys with unilateral cryptorchidism, suggesting that the lack of fetal androgen in hypogonadotropic hypogonadism is not that significant. No external funding was used and no competing interests are declared. The trial was not registered in an ICMJE-recognized trial registry.

Association Between Myocardial Oxygenation and Fibrosis in Duchenne Muscular Dystrophy: Analysis by Rest Oxygenation-Sensitive Magnetic Resonance Imaging.

Myocardial hypoxia has been demonstrated in many cardiomyopathies and is related to development of myocardial fibrosis. However, myocardial hypoxia and its association with myocardial fibrosis are understudied in Duchenne muscular dystrophy (DMD)-associated cardiomyopathy. To evaluate myocardial hypoxia by oxygenation-sensitive (OS) cardiac magnetic resonance imaging, and further explore its association with fibrosis. Prospective. Ninety-one DMD boys (8.78 ± 2.32) and 30 healthy boys (9.07 ± 2.30). 3 T, Balanced steady-state free procession, Modified Look-Locker inversion recovery sequence and Single-shot phase-sensitive inversion recovery sequence. Cardiac MRI data, including left ventricular functional, segmental native T1, and oxygenation signal-intensity (SI) according to AHA 17-segment model, were acquired. Patients were divided into LGE+ and LGE- groups. In patients with LGE, all segments were further classified as positive or negative segments by segmentally presence/absence of LGE. Variables were compared using Student's t, Wilcoxon, Kruskal-Wallis test and one-way analysis of variance. Bivariate Pearson or Spearman correlation were calculated to determine association between oxygenation SI and native T1. Variables with P < 0.10 in the univariable analysis were included in multivariable model. Receiver operating characteristic analysis was used to assess the performance of OS in diagnosing myocardial hypoxia. The myocardial oxygenation SI of DMD was significantly decreased in all segments compared with normal controls, and more obvious in the LGE+ segments (0.46 ± 0.03 vs. 0.52 ± 0.03). For patients with and without LGE, myocardial oxygenation SI were significantly negatively correlated with native T1 in all segments (r = -0.23 to -0.42). The inferolateral oxygenation SI was a significant independent associator of LGE presence (adjusted OR = 0.900). Myocardial hypoxia evaluated by the OS-Cardiac-MRI indeed occurs in DMD and associate with myocardial fibrosis, which might be used as a biomarker in assessing myocardial damage in DMD. 1 TECHNICAL EFFICACY: Stage 1.

Central Precocious Puberty in Italian Boys: Data From a Large Nationwide Cohort.

There are only a few nationwide studies on boys with central precocious puberty (CPP) and the last Italian study is a case series of 45 boys that dates back to 2000. We aimed to evaluate the causes of CPP in boys diagnosed during the last 2 decades in Italy and the relative frequency of forms with associated central nervous system (CNS) abnormalities on magnetic resonance imaging (MRI) compared to idiopathic ones. We performed a national multicenter retrospective study collecting data from 193 otherwise normal healthy boys with a diagnosis of CPP. Based on MRI findings, the patients were divided into: Group 1, no CNS abnormalities; Group 2, mild abnormalities (incidental findings) unrelated to CPP; and Group 3, causal pathological CNS abnormalities. The MRI findings show normal findings in 86%, mild abnormalities (incidental findings) in 8.3%, and causal pathological CNS abnormalities in 5.7% of the cases. In Group 3, we found a higher proportion of patients with chronological age at diagnosis < 7 years (P = .00001) and body mass index greater than +2 SDS (P < .01). Gonadotropin-releasing hormone analogue therapy was started in 183/193 subjects. The final height appeared in the range of the target height in all groups and in 9 patients in whom the therapy was not started. In our study on a large nationwide cohort of boys referred for precocious puberty signs, the percentage of forms associated with CNS abnormalities was one of the lowest reported in the literature.

Advocating hormonal treatment to prevent adult in-fertility in patients diagnosed with congenital un-descended testes.

In 2007 the Nordic group came to the following unanimous conclusions: In general, hormonal treatment is not recommended, considering the poor immediate results and the possible long-term adverse effects on spermatogenesis. Thus, surgery is to be preferred. However, defective mini puberty inducing insufficient gonadotropin secretion is one of the most common causes of nonobstructive azoospermia in men suffering from congenital isolated unilateral or bilateral cryptorchidism. The extent of alteration in the unilateral undescended testis correlate with the contralateral descended testis, indicating that unilateral cryptorchidism is a bilateral disease. Idiopathic central hypogonadism explains the phenomenon of defective mini puberty in otherwise healthy cryptorchid boys. We therefore recommend hormonal treatment for cryptorchid boys with defective mini puberty. Gonadotropin releasing hormone agonist (GnRHa) treatment following surgery to correct cryptorchidism restores mini puberty via endocrinological and transcriptional effects and prevents adult infertility in most cases. Several genes are important for central hypogonadotropic hypogonadism in mammals, including many that are transcribed in both the brain and testis. At the molecular level, there is no convincing evidence that heat shock is responsible for the observed pathological testicular changes. Thus, impaired transformation of gonocytes is not the result of temperature stress but rather a hormonal imbalance. Cryptorchidism should therefore be considered a serious andrological problem that cannot be successfully treated by early orchidopexy alone.

ECTHYMA GANGRENOSUM THAT REVEALED AN AGAMMAGLOBULINEMIA: A CASE REPORT

Ecthymagangrenosum is a distinctive skin infection caused by P. aeruginosa bacteremia; it typically occurs in immunocompromised or critically ill patients. However, in previously healthy children with pseudomonas sepsis, the infection may be the first manifestation of underlying pathology, such as agammaglobulinemia. We report a case of echtymagangrenosum in previously healthy boy, leading to the diagnosis of agammaglobulinemia.

The Validity of the Native Non-sports Equation in Estimating the Maximum Aerobic Capacity of Adolescent Boys

Objectives: The maximum aerobic capacity (VO2max) is the most important indicator of physical fitness, which is closely related to the general health of the body. Considering the problems of laboratory measurement of VO2max, estimating VO2max by non-exercise equations will be one of the alternative solutions. This study aims to evaluate the validity of the native non-exercise equation in estimating VO2max of healthy adolescent boys. Methods: The variables of age, height, weight, and body mass index were measured in 248 healthy boys aged 15 to 18. The subjects' VO2max was measured and predicted by exercise test and non-exercise native equation respectively. To evaluate the validity of the native non-exercise equation, Pearson's correlation, paired t-test, and Bland-Altman's agreement were used. Results: There is a significant correlation between measured and predicted VO2max (R = 0.76, p&lt;0.05). Also, no significant difference was observed between predicted and measured VO2max (43.10 ml/kg/min and 43.38 ml/kg/min respectively) (mean difference=0.28 ml/kg/min, P&gt;0.05). Also, the Bland-Altman graphic diagram indicated agreement between the methods of measuring and estimating VO2max. Conclusion: In the present study, the native non-sports equation had a high validity in estimating VO2max of adolescent boys. It seems that the use of non-sports VO2max equations can be used as a simple, safe, and low-cost tool to evaluate the maximum aerobic capacity of students at a wide level.

Ileal fecaloma in a 2-month healthy boy

A fecaloma is a fecal matter that builds up to form a hard mass of feces that is extremely rigid than a mass connected with fecal impaction. Fecalomas are commonly in the rectosigmoid region. Our report aimed to give a brief review of this case and discuss the treatment options for it. A 2-month-old male presented with bowel obstruction and a palpable mass on the right side of the abdomen. A simple abdominal radiograph and contrasted abdominal computed tomography scan were performed immediately, resulting in small intestine mechanical obstruction. A 4.6 × 6.6 × 4 cm fecaloma was found in the distal ileum. We consequently diagnosed a case of ileal fecaloma-producing small bowel obstruction. The patient was surgically managed after conservative treatment failed.