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Background Growth evaluation is one of the most common reasons for referral to pediatric endocrinologists. While many factors, including nutritional status, comorbidities, and hormonal imbalances, can affect growth, a child’s adult height (AH) is primarily influenced by parental stature. Target height (TH) calculation is a widely used tool to assess whether a child is growing within the expected familial range. Despite its popularity, Tanner’s formula, proposed in 1970, has faced criticism, and alternative formulas have been suggested. Summary Several factors, such as sex differences in stature, secular trends, height disparity between parents, assortative mating, and parent-child height correlations, may affect the accuracy of TH calculation. Additionally, the formula tends to underestimate AH in children from very short parents, leading to underestimation of growth potential and overestimation of the effect of growth-promoting therapies.

Abstract Context Standardized description of external genitalia is needed in the assessment of children with atypical genitalia. Objectives To validate the External Genitalia Score (EGS), to present reference values for preterm and term babies up to 24 months and correlate obtained scores with anogenital distances (AGDs). Design, Setting A European multicenter (n = 8) validation study was conducted from July 2016 to July 2018. Patients and Methods EGS is based on the external masculinization score but uses a gradual scale from female to male (range, 0–12) and terminology appropriate for both sexes. The reliability of EGS and AGDs was determined by the interclass correlation coefficient (ICC). Cross-sectional data were obtained in 686 term babies (0–24 months) and 181 preterm babies, and 111 babies with atypical genitalia. Results The ICC of EGS in typical and atypical genitalia is excellent and good, respectively. Median EGS (10th to 90th centile) in males < 28 weeks gestation is 10 (8.6–11.5); in males 28–32 weeks 11.5 (9.2–12); in males 33–36 weeks 11.5 (10.5–12) and in full-term males 12 (10.5–12). In all female babies, EGS is 0 (0-0). The mean (SD) lower/upper AGD ratio (AGDl/u) is 0.45 (0.1), with significant difference between AGDl/u in males 0.49 (0.1) and females 0.39 (0.1) and intermediate values in differences of sex development (DSDs) 0.43 (0.1). The AGDl/u correlates with EGS in males with typical genitalia and in atypical genitalia. Conclusions EGS is a reliable and valid tool to describe external genitalia in premature and term babies up to 24 months. EGS correlates with AGDl/u in males. It facilitates standardized assessment, clinical decision-making and multicenter research.

PurposeTo review existing literature about fertility and sexuality of boys born with complex congenital genitourinary anomalies.MethodsA Pubmed review was performed in December 2018 to identify the most relevant original manuscripts regarding male complex congenital conditions affecting the urogenital system in male patients including spina bifida (SB), bladder exstrophy–epispadias complex (BEEC) and hypospadias. A comprehensive review was drafted exploring sexual dysfunction from a medical, psychosexual, surgical and reproductive point of view during transition from childhood (or adolescence) to adulthood.ResultsAbout 75% of men with SB have erectile dysfunction (ED) (Gamé et al. in Urology 67(3):566–570, 2006; Diamond et al. in 58(4):434–435, 1986). Most SB patients have impaired sexual development mainly due to diminished self-esteem, dependence on caregivers and lack of privacy (Blum et al. in Pediatrics 88(2):280–285, 1991). Men with BEEC have fewer intimate relationships than women because of the greater difficulties with issues regarding their genitalia and sexual activities (Deans et al. in Am J Obstet Gynecol 206(6):496.e1–496.e6, 2012). However, a good quality of life is achievable with the effective use of coping strategies (Deng et al. in Transl Androl Urol 7:941, 2018; Rikken et al. in BMC Womens Health 18(1):163, 2018; Friedler et al. in Reprod Biomed Online 32(1):54–61, 2016). Chordee occurs in 25% of all hypospadias patients. More severe hypospadias is related to a greater risk for complications. The long-term sexual quality of life (QoL) in men who underwent hypospadias surgery is influenced by a lot of factors. Therefore, an interactive and dynamic biopsychosocial model of sexual QoL was proposed.ConclusionsThe care of patients with congenital urologic conditions becomes a challenge especially in the period of ‘transition’. The goal of follow-up is a holistic management viewed from a medical, psychosexual, surgical end reproductive point. All patients should be asked for specific urinary, fecal or sexual concerns.

Abstract Context Progestins can be used to attenuate endogenous hormonal effects in late-pubertal transgender (trans) adolescents (Tanner stage B4/5 and G4/5). Currently, no data are available on the effects of progestins on the development of bone mass or body composition in trans youth. Objective To study prospectively the evolution of body composition and bone mass in late-pubertal trans adolescents using the proandrogenic or antiandrogenic progestins lynestrenol (L) and cyproterone acetate (CA), respectively. Design and Outcome Measurements Forty-four trans boys (Tanner B4/5) and 21 trans girls (Tanner G4/5) were treated with L or CA for 11.6 (4 to 40) and 10.6 (5 to 31) months, respectively. Anthropometry, grip strength, body composition, and bone mass, size, and density were determined by dual-energy X-ray absorptiometry and peripheral quantitative computed tomography before the start of progestin and before addition of cross-sex hormones. Results Using L, lean mass [+3.2 kg (8.6%)] and grip strength [+3 kg (10.6%)] significantly increased, which coincided with a more masculine body shape in trans boys. Trans girls showed loss of lean mass [−2.2 kg (4.7%)], gain of fat mass [+1.5 kg (9.4%)], and decreased grip strength Z scores. CA limited normal bone expansion and impeded pubertal bone mass accrual, mostly at the lumbar spine [Z score: −0.765 to −1.145 (P = 0.002)]. L did not affect physiological bone development. Conclusion Proandrogenic and antiandrogenic progestins induce body composition changes in line with the desired appearance within 1 year of treatment. Bone health, especially at the lumbar spine, is of concern in trans girls, as bone mass accrual is severely affected by androgen suppressive therapy. Proandrogenic and antiandrogenic progestins induce body composition changes toward the desired appearance in trans youth. Bone mass accrual is compromised in trans girls, especially at trabecular bone.

Previous literature shows that managers, evaluating employees, insufficiently differentiate between strong and weak performers, which causes disadvantageous organizational outcomes. Bol et al. (Acc Organ Soc 51:64–73, 2016) demonstrate in an independent bonuses context that when these managers can base their evaluations on accurate information, they differentiate more when allocating bonuses, but only when evaluation outcomes are transparent. Our experiment replicates and extends Bol et al. (2016) in a fixed bonus pool context. We investigate the effects of information accuracy and whether managers get the opportunity to write a justification to their different employees when making their bonus allocations as an alternative way to create transparency. We hypothesize and find that justification increases managers’ differentiation in bonus allocations, but only—as in Bol et al. (2016)—when performance information accuracy is high. With a path analysis we disentangle the underlying process: we find that justification increases managers’ expectations that employees will perceive the differentiation in the bonus allocations as fair, especially when information accuracy is high. Finally, such managers’ expectations are positively related to the degree to which they differentiate in their bonus allocations.

A subset of patients with monogenic disorders lacks disease causing mutations in the protein coding region of the corresponding gene. Here we describe a recurrent germline mutation found in two unrelated patients with complete androgen insensitivity syndrome (CAIS) generating an upstream open reading frame (uORF) in the 5' untranslated region (5'-UTR) of the androgen receptor (AR) gene. We show in patient derived primary genital skin fibroblasts as well as in cell-based reporter assays that this mutation severely impacts AR function by reducing AR protein levels without affecting AR mRNA levels. Importantly, the newly generated uORF translates into a polypeptide and the expression level of this polypeptide inversely correlates with protein translation from the primary ORF of the AR thereby providing a model for AR-5'UTR mediated translational repression. Our findings not only add a hitherto unrecognized genetic cause to complete androgen insensitivity but also underline the importance of 5'UTR mutations affecting uORFs for the pathogenesis of monogenic disorders in general.

Inactivating mutations within the AR gene are present in only ~40% of individuals with clinically and hormonally diagnosed androgen insensitivity syndrome (AIS). Previous studies revealed the existence of an AR gene mutation-negative group of patients with AIS who have compromised androgen receptor (AR) function (AIS type II). To investigate whether AIS type II can be due to epigenetic repression of AR transcription. Quantification of AR mRNA and AR proximal promoter CpG methylation levels in genital skin-derived fibroblasts (GFs) derived from patients with AIS type II and control individuals. University hospital endocrine research laboratory. GFs from control individuals (n = 11) and patients with AIS type II (n = 14). Measurement of AR mRNA and AR promoter CpG methylation as well as activity of AR proximal promoter in vitro. Fifty-seven percent of individuals with AIS type II (n = 8) showed a reduced AR mRNA expression in their GFs. A significant inverse correlation was shown between AR mRNA abundance and methylation at two consecutive CpGs within the proximal AR promoter. Methylation of a 158-bp-long region containing these CpGs was sufficient to severely reduce reporter gene expression. This region was bound by the runt related transcription factor 1 (RUNX1). Ectopic expression of RUNX1 in HEK293T cells was able to inhibit reporter gene expression through this region. Aberrant CpGs methylation within the proximal AR promoter plays an important role in the control of AR gene expression and may result in AIS type II. We suggest that transcriptional modifiers, such as RUNX1, could play roles therein offering new perspectives for understanding androgen-mediated endocrine diseases.

Background and objectiveDifferences of sexual development (DSD) affect the development of internal reproductive organs and external genitalia. Ectopic kidney is a rare and challenging pathology causing amongst others incontinence and recurrent urinary tract infections. Those pathologies may in certain cases be an indication for surgery. This manuscript aims to evaluate the role of robot-assisted laparoscopy in the surgical treatment of patients with ectopic kidneys or DSD.Materials and methodsA prospective database is maintained in a tertiary referral center with all robotic surgeries performed in children. From this database, a prospective series of robot-assisted resection of embryologic remnants located in the pelvis was extracted: resection of a prostatic utricle cyst, removal of ectopic non-functional kidneys, and resection of a hemi-uterus.ResultsFrom an initial database including 72 patients, six patients met the inclusion criteria. Three male patients presenting with utricle cysts, two young girls presenting with ectopic kidneys, and one young boy with pelvic embryological remnants of the uterus, were further evaluated.ConclusionSurgical treatment of patients with DSD is safe, feasible, and a good indication for robot-assisted laparoscopic surgery, as both deep dissection and reconstruction in a limited surgical field are requested.

Introduction This study examined how maternal and paternal stress, anxiety, and trait mindfulness, and child glycemic control are related to real-life parent–child interactions in families confronted with type 1 diabetes (T1D). Methods Parents reported on trait mindfulness, illness-related parenting stress, general stress, and state anxiety. Parent–child mealtime interactions were videotaped and scored in 33 families (31 mothers and 20 fathers) of children with T1D (5–12y., mean HbA1c = 7.22%). Results Parental stress and anxiety were related to more maladaptive and less adaptive parent–child interactions. For mothers, mindfulness was related to less observed discomfort of the child during injection. For fathers, more emotional involvement was related to better child glycemic control. Discussion Results indicate that parental stress and anxiety may be risk factors for maladaptive parent–child interactions.

The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Males with 45,X/46,XY frequently show stigmata typically associated with TS. We hypothesised that males with 45,X/46,XY have similar cardiovascular pathology as females with 45,X/46,XY. To investigate cardiovascular abnormalities in 45,X/46,XY males and to compare them with 45,X/46,XY females. Patients with 45,X/46,XY mosaicism were selected from the Belgian Registry for Growth and Puberty problems and via the multidisciplinary clinic for disorders of sexual development. EIGHTEEN PATIENTS WERE INCLUDED: 8 raised as females (F) and 10 as males (M). Complete cardiac examination with blood pressure measurement, ECG, echocardiography and MRI. Cardiac parameters were registered for both groups. In a second phase, clinical features and external masculinisation score (EMS) were retrospectively collected from the medical files. A structural heart defect was diagnosed before inclusion in 1 F with coarctation and 1 M with spontaneously closed VSD. A bicuspid aortic valve was found in 8 (3 F, 5 M). Dilation of the ascending aorta was present in 4 M and was severe in 2 young boys. QTc was prolonged in 3 F and 2 M. Males with 45,X/46,XY mosaicism have similar cardiovascular pathology as 45,X/46,XY females. Dilation of the ascending aorta can be important, also in males. We advise cardiac screening and life-long monitoring in all males with 45,X/46,XY mosaicism according to the existing guidelines for Turner syndrome.