Paediatric endocrinology - prospectives and near future

It is my greatest pleasure to introduce the papers devoted to Paediatric Endocrinology, coming in the current issue of Scripta Scientifica Medica!Paediatric Endocrinology is a relatively new but quickly and steadily developing paediatric subspecialty. While it is still unrecognized in some European countries, Paediatric Endocrinology was officially introduced in Bulgaria 20 years ago (in 1995). Even before that, many renowned paediatricians developed both endocrinology and diabetology and put the foundation for further development (professors Zhelev, Damyanova, Stanchev and others). In the 80s Prof. Lilia Peneva was the first Bulgarian paediatrician who officially joined the European Society of Paediatric Endocrinology (ESPE) and paved the way for efficient participation in the life of the biggest professional paediatric endocrine society nowadays. Since then many colleagues joined efforts in improving care for children with short stature, diabetes, rare endocrine and metabolic diseases and scientific potential grew in parallel. In 2010 the Varna Paediatric Endocrine Society (VAPES) was registered, and a year later - the Bulgarian National Society of Paediatric Endocrinology (BNSDE). Many causes have been raised and many problems solved, especially in day care. Both BNSPE and VAPES endorse the ESPE Training Syllabus (https://www.eurospe.org/education/education_training.html), and the quality and knowledge of trainees is improving constantly. This brings new successful researchers in the field, and gradually increases the number of publications in respected international journals. A good appraisal of the merit of the discipline`s development is the attraction of World renowned speakers to the annual meetings of both VAPES (www.vapesbg.org) and BNSPE (www.bnsde.org)

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development

Objective: Disorders in sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Promoting counselling to facilitate acceptance and coping is important yet equality of access is unknown. This study investigated the modalities of psychosocial care provided in centres of DSD care. Methods: An international survey conducted among 93 providers of psychosocial care, identified through clinical networks, registries and professional forums. Results: Forty-six respondents from 22 different countries filled out the survey (49%). Most respondents (78%) were based in hospital-based expert teams. Referrals came from paediatric endocrinologists (76%), gynaecologists (39%) and paediatric urologists (37%). Psychological counselling was most frequently given to parents (74%), followed by children (39%), adolescents (37%) and adults (11%) and was most frequently focused on coping and acceptance of DSD (54%), education (52%), the atypical body (39%) and genital (41%), decisions on genital surgery (33%), complications with sexual intercourse (29%), disclosure (28%) and acceptance of infertility (11%). Respondents most frequently observed DSD related confusion about gender (54%), acceptance of cross gender behaviour (50%), anxiety (43%) and sadness and depression (38%). Conclusions: Most psychosocial care is provided to parents. It is assumed that parental support is important as acceptance is conditional to become affectionate caretakers. Although it may be more difficult for youngsters to communicate about their condition and treatment, providing opportunity to bring up issues that are important for them, is imperative. Clinicians and parents should be aware that parental and patients’ interests may not correspond completely. Psychosocial management should also include transition and adult care

Using the intervention mapping protocol to reduce European preschoolers' sedentary behavior, an application to the ToyBox-study

Background: High levels of sedentary behavior are often measured in preschoolers, but only a few interventions have been developed to counteract this. Furthermore, detailed descriptions of interventions in preschoolers targeting different forms of sedentary behavior could not be located in the literature. The aim of the present paper was to describe the different steps of the Intervention Mapping Protocol used towards the development of an intervention component of the ToyBox-study focusing on decreasing preschoolers' sedentary behavior. The ToyBox-study focuses on the prevention of overweight in 4- to 6-year-old children by implementing a multi-component kindergarten-based intervention with family involvement in six different European countries. Methods: Applying the Intervention Mapping Protocol, six different steps were systematically completed for the structured planning and development of the intervention. A literature search and results from focus groups with parents/caregivers and kindergarten teachers were used as a guide during the development of the intervention and the intervention materials. Results: The application of the different steps in the Intervention Mapping Protocol resulted in the creation of matrices of change objectives, followed by the selection of practical applications for five different intervention tools that could be used at the individual level of the preschool child, at the interpersonal level (i.e., parents/caregivers) and at the organizational level (i.e., kindergarten teachers). No cultural differences regarding preschoolers' sedentary behavior were identified between the participating countries during the focus groups, so cultural and local adaptations of the intervention materials were not necessary to improve the adoption and implementation of the intervention. Conclusions: A systematic and evidence-based approach was used for the development of this kindergarten-based family-involved intervention targeting preschoolers, with the inclusion of parental involvement. The application of the Intervention Mapping Protocol may lead to the development of more effective interventions. The detailed intervention matrices that were developed as part of the ToyBox-study can be used by other researchers as an aid in order to avoid repetitive work for the design of similar interventions

Growth hormone deficiency and multiple Enchondromatosis (Ollier disease) in a boy with short stature

We present a boy diagnosed and treated with growth hormone (GH) for isolated GH deficiency. During 2 year follow up he did not catch up in both height and weight. Although there was no skeletal disproportionality, nor any other complaints, his walk began changing and lower limbs deformity appeared (genua vara). Extensive skeletal radiological survey found multiple enchondromatosis (knees, iliac bones) and Ollier disease was diagnosed. There is no specific treatment for this condition, but its presence questions future GH therapy. The poor response to growth hormone treatment and the risk of developing malignant transformation in the future raises the important questions of the real benefits and the possible harms of its maintenance

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development

Background: One in 4500 children is born with ambiguous genitalia, milder phenotypes occur in one in 300 newborns. Conventional time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20-40% of 46, XY cases with ambiguous genitalia. All others remain without a definitive diagnosis. The investigation of milder cases, as suggested by recent reports remains controversial. Methods: Integrated clinical, hormonal and genetic screening was performed in a sequential series of 46, XY children, sex-assigned male, who were referred to our pediatric endocrine service for atypical genitalia (2007-2013). Results: A consecutive cohort of undervirilized 46, XY children with external masculinization score (EMS) 2-12, was extensively investigated. In four patients, a clinical diagnosis of Kallmann syndrome or Mowat-Wilson syndrome was made and genetically supported in 2/3 and 1/1 cases respectively. Hormonal data were suggestive of a (dihydro) testosterone biosynthesis disorder in four cases, however no HSD17B3 or SRD5A2 mutations were found. Array-CGH revealed a causal structural variation in 2/6 syndromic patients. In addition, three novel NR5A1 mutations were found in non-syndromic patients. Interestingly, one mutation was present in a fertile male, underlining the inter-and intrafamilial phenotypic variability of NR5A1-associated phenotypes. No AR, SRY or WT1 mutations were identified. Conclusion: Overall, a genetic diagnosis could be established in 19% of non-syndromic and 33% of syndromic cases. There is no difference in diagnostic yield between patients with more or less pronounced phenotypes, as expressed by the external masculinisation score (EMS). The clinical utility of array-CGH is high in syndromic cases. Finally, a sequential gene-by-gene approach is time-consuming, expensive and inefficient. Given the low yield and high expense of Sanger sequencing, we anticipate that massively parallel sequencing of gene panels and whole exome sequencing hold promise for genetic diagnosis of 46, XY DSD boys with an undervirilized phenotype

Preschool children - obesity and risk behaviours. Trends from 2009 to 2013

In the beginning of 2011, according to WHO more than 40 million children under 5 years are overweight, and over 30 million of them live in developing countries. In Bulgaria Iotova et. al. (2009) reported an increased incidence of obesity in 9-year old girls from 4.3% to 10.4% over a period of 5 years (2002-2007).Aim: To determine the incidence of overweight and general and abdominal obesity in preschool children, and also some risk behaviors and their trend over 2009.Participants and methods: height, weight and WC were measured of a total of 117 children aged 4,53±0.29 years that were attending kindergartens in Varna. BMI (kg/m2) was calculated and compared with the IOTF references for the corresponding age and sex. The comparison was made with a group of 189 children from Varna, of the same age (mean age 4,58±0,31 years), measured by the same methods in 2009. Res ults : When comparing the two groups there was a significant reduction in WC (p=0.022). In 2009 OW/ obese were 12.7% of the children and significantly increased to 19.7% in 2013 (p=0.01). There is a decrease in the proportion of obese children (from 4.2% to 0.9%) and an increase in those who were overweight (from 8.5% to 18.8%).Conclusion: Reducing the percentage of obese children in this young age most likely reflects a positive trend in the attitude towards obesity. Increasing percentage of overweight children who are potential pool of increasing obesity with age, requires serious attention in the prevention of obesity

The ESPE e-learning webportal: A global tool for instruction and formative assessment of pediatric endocrinology

The ESPE e-learning portal (http://www.espe-elearning.org) aims at supporting the learning of cognitive objectives, competencies and skills at two levels: core (medical students) and advanced (fellow/postdoc). It provides a rich source of up-to-date information on various Pediatric Endocrinology topics. The ESPE elearning webportal offers a set of functionalities consisting of a general learning content (chapters, problem solving cases, self-tests, glossary, community) and the option to construct specific courses for an event (ESPE school) or organization: a client, university or institution. Moreover, a set of question types has been developed allowing scoring and assessment of competencies. The content is being expanded and includes chapters and/or cases on the topics of growth, puberty, DSD, calcium and bone, diabetes, hyperinsulinism, thyroidal disorders, adrenal disorders, dis-electrolytemia. Since the portal has been moved to its definite address the global use of the portal has increased: during the period September - December 2013 there were 1264 visits; during the period January-April 2014 there were 2393 visits. The availability of the portal for members and non-members of ESPE needs to be emphasized and needs to be made public widely. Moreover, relevant feedback from users should be translated by the editorial board to make practical improvements. As demonstrated during two courses held in Varna, Bulgaria the portal facilitates the combination of online learning and face-to-face instruction: blended learning. Finally, the next step in extending the impact of the e-learning portal is the further development of learning and competency assessment tools. Furthermore, in demonstrating its applicability at a global level, regional and cultural aspects should be fully recognized