Intraprofessional boundary crossing in acute paediatric care: A rich journey for general practice and paediatric residents.

BACKGROUND: Achieving optimal collaboration between general practitioners and hospital-based critical care doctors is vital yet challenging, necessitating targeted collaborative training during residency. Despite apparent benefits, implementing intraprofessional learning faces constraints. Understanding its occurrence is crucial for engaging and educating residents. Considering boundaries' learning potential, we developed and evaluated an educational programme for general practitioner (GP) and paediatric (P) residents in paediatric emergency care based on Akkerman's Boundary Crossing Theory. The study investigated how intraprofessional learning mechanisms occurred and what learning conditions facilitated or impeded learning of GP and P residents, aiming to optimise educational programme design for intraprofessional collaboration. METHODS: We developed an educational programme with three activities: joint medical assessments of paediatric patients in each other's context, mutually mini-Clinical Evaluation Exercises (mini-CEXs) about intraprofessional collaboration skills and educational meetings about collaborative care. We performed a qualitative study with a constructivist approach to explore experiences of the programme. We conducted focus group interviews and analysed mini-CEXs, utilising Boundary Crossing theory for template analysis. RESULTS: Ten GP and eight P residents participated in our study. Learning mechanisms of identification and coordination dominated the joint medical assessments. Mini-CEXs stimulated reflection. Educational meetings with supervisors about intraprofessional barriers initiated transformation. Facilitated learning conditions were bidirectional crossing, enthusiastic supervisors, residents being familiar with each other, clear mini-CEX design and authentic paediatric cases. Unclear mutual expectations during joint medical assessments impeded learning of residents. CONCLUSIONS: Working in each other's context triggers learning mechanisms of identification, coordination and reflection, forming the basis for intraprofessional learning in paediatric emergency care for GP and P residents. For development of new collaboration practices, supervisors are necessary to translate reflection into transformation. Mutual responsibilities and expectations should be made more explicit to create a safer intraprofessional learning environment. Our findings extend to other medical training contexts, leveraging boundaries for learning.

Reframing selection as a learning experience: Insights from a residency selection assessment.

PURPOSE: Selection for postgraduate medical training is high-stakes and complex. The learning value of assessments for selection has, thus far, been underexplored, limiting their uptake as potentially meaningful learning experiences. The aim of this study was to explore the learning value residency applicants derive from an intelligence, personality, motivation and competency selection assessment and what factors influence the experienced learning value. METHODS: In Autumn 2020 and Spring 2021, we conducted individual semi-structured interviews with sixteen applicants for pediatric residency training. Selection outcomes were unknown at the time of the interview. Interviews were transcribed verbatim and thematically analyzed. RESULTS: Participants reported that the assessment was valuable in fostering self-reflection and self-awareness, embracing self-acceptance, pursuing development goals, assessing professional fit, and harnessing motivational drivers in work. The experienced learning value was influenced by applicants' ability to interpret its results, their focus on the high-stakes selection process and concerns regarding the acceptability and credibility of the selection tool. CONCLUSIONS: While the selection assessment showed learning potential, its learning value was impeded by a preoccupation with the high-stakes nature of the selection procedure. Intentional integration of the selection assessment in the learning curriculum may play a pivotal role in realizing its learning potential.

Deciding on future fertility: considerations of girls with Turner syndrome and their parents to opt for or against ovarian tissue cryopreservation.

RESEARCH QUESTION: What are the considerations of girls with Turner syndrome and their parents to opt for or against ovarian tissue cryopreservation (OTC)? DESIGN: Semi-structured in-depth interviews were conducted with girls with Turner syndrome and their parents until data saturation was reached. Participants were recruited through purposive sampling. Data were analysed using a thematic analysis approach. RESULTS: Thirteen parents and five girls who opted for OTC, and seven parents and three girls who declined OTC, were interviewed. Parents and girls mentioned that OTC offered hope, an opportunity to have genetic offspring and clarity about their current fertility status. Most participants were not afraid of the risks of surgery and trusted healthcare providers with this procedure. In contrast, families had to deal with uncertainties, owing to the lack of information on the success rate and long-term consequences of OTC in this group. Families indicated that they had to go through an important decision-making process in a short period of time, because of the limited number of participants in the OTC study. CONCLUSION: A new opportunity and hope for future fertility were considerations for opting for OTC. However, OTC also came with uncertainties owing to the experimental nature of this procedure in girls with Turner syndrome. Healthcare providers could share these experiences with girls with Turner syndrome and their parents to improve fertility-preservation counselling in this group.

Unravelling underlying processes in intraprofessional workplace learning in residency.

BACKGROUND: To deliver high-quality collaborative care, residents need to be trained across the boundaries of their medical specialty (intraprofessional learning). The current literature does not provide insights into the underlying processes that influence intraprofessional learning. The aim of this study was to gain insight into the processes that occur during intraprofessional workplace learning in residency training, by exploring everyday intraprofessional interactions experienced by residents, with the ultimate objective of improving collaborative practice. METHOD: We conducted a focused ethnography using field observations and in-depth interviews with residents at an academic children's hospital in the Netherlands. In 2022, nine residents from four different medical specialties were shadowed and/or interviewed. In total, >120 hours of observation and 10 interviews were conducted. Data collection and analysis were conducted iteratively and discussed in a research team with diverse perspectives, as well as with a sounding board group of stakeholders. RESULTS: Residents were involved in numerous intraprofessional interactions as part of their daily work. We identified three themes that shed light on the underlying processes that occur during intraprofessional workplace learning: (1) residents' agency, (2) ingroups and outgroups and (3) communication about intraprofessional collaboration. CONCLUSIONS: Collaborative practice offers many intraprofessional learning opportunities but does not automatically result in learning from, with and about other specialties to improve intraprofessional collaborative care. Overarching the identified themes, we emphasise the pivotal role of the resident-supervisor dyad in facilitating residents' engagement in the learning opportunities of complex intraprofessional care. Furthermore, we propose that promoting deliberate practice and shared responsibility in collaborative care are crucial to better prepare residents for their roles and responsibilities in delivering high-quality collaborative patient care.

Learning for doctor-to-doctor collaboration: a qualitative study exploring the experiences of residents and supervisors with intraprofessional workplace learning in complex tertiary care.

BACKGROUND: To deliver high-quality care for individuals with complex medical conditions, residents need to be trained across the boundaries of their specialties. This study aimed to explore learning activities and influencing factors in intraprofessional workplace learning by residents in complex tertiary care. METHODS: This qualitative study was conducted in a tertiary care children's hospital. In September - December 2017, fourteen individual and two focus group interviews were conducted with a purposive sample of residents and supervisors of various specialties. Transcribed interviews were thematically analyzed to describe learning activities and influencing factors that play a role in intraprofessional workplace learning in complex tertiary care settings during residency training. RESULTS: Respondents described numerous activities that they considered opportunities for intraprofessional learning, both directly and not directly related to patient care. However, deliberate attention to intraprofessional learning often seemed to be lacking in clinical practice. Influencing factors on a system (macro), organization (meso) and personal and interpersonal level (micro) level were identified. Factors on the macro and meso level mainly determined whether intraprofessional learning opportunities arose, while micro level factors mainly influenced whether opportunities were seized. CONCLUSIONS: There are ample opportunities for intraprofessional workplace learning in complex tertiary care for residents. Residents may benefit more from intraprofessional learning opportunities if these are made more intentional and deliberate. Influencing factors at the macro, meso and micro level provide targets for interventions aimed at enhancing intraprofessional workplace learning in postgraduate medical training.

Cardiac abnormalities in girls with Turner syndrome: ECG abnormalities, myocardial strain imaging, and karyotype-phenotype associations.

Turner syndrome (TS) is a chromosomal condition which is associated with an increased prevalence of cardiac morbidity and mortality. In this cross-sectional study, Minnesota-based electrocardiographic (ECG) abnormalities, aortic dimensions, routine- and myocardial strain echocardiographic parameters, and karyotype-cardiac phenotype associations were assessed in girls with TS. In total, 101 girls with TS (0-18 years) were included. The prevalence of major ECG abnormalities was 2% (T-wave abnormalities) and 39% had minor ECG abnormalities. Dilatation of the ascending aorta (z-score > 2) was present in 16%, but the prevalence was much lower when using TS-specific z-scores. No left ventricular hypertrophy was detected and the age-matched global longitudinal strain was reduced in only 6% of the patients. Cardiac abnormalities seemed more common in patients with a non-mosaic 45,X karyotype compared with other karyotypes, although no statistically significant association was found. Lowering the frequency of echocardiography and ECG screening might be considered in girls with TS without cardiovascular malformations and/or risk factors for aortic dissection. Nevertheless, a large prospective study is needed to confirm our results. The appropriate z-score for the assessment of aortic dilatation remains an important knowledge gap. The karyotype was not significantly associated with the presence of cardiac abnormalities, therefore cardiac screening should not depend on karyotype alone.

Intraprofessional workplace learning in postgraduate medical education: a scoping review.

BACKGROUND: Residents need to be trained across the boundaries of their own specialty to prepare them for collaborative practice. Intraprofessional learning (i.e. between individuals of different disciplines within the same profession) has received little attention in the postgraduate medical education literature, in contrast to the extensive literature on interprofessional learning between individuals of different professions. To address this gap, we performed a scoping review to investigate what and how residents learn from workplace-related intraprofessional activities, and what factors influence learning. METHODS: The PRISMA guidelines were used to conduct a scoping review of empirical studies on intraprofessional workplace learning in postgraduate medical education published between 1 January 2000 to 16 April 2020 in Pubmed, Embase, PsycINFO, ERIC and Web of Science. This study applied 'best fit' framework-based synthesis to map the existing evidence, using the presage-process-product (3P) model developed by Tynjälä (2013). RESULTS: Four thousand three hundred thirty records were screened, and 37 articles were included. This review identified influencing (presage) factors that derived from the sociocultural environment, learner and learning context. Studies described that complexity of care can both facilitate and hinder learning. Furthermore, intraprofessional learning is threatened by professional stereotyping and negative perceptions, and awareness of learning opportunities and explicit reflection are critical in intraprofessional workplace learning. Studies described a range of informal and formal intraprofessional activities (process) under the headings of collaboration in clinical practice, rotations or placements, formal educational sessions and simulated workplace training. In general, learners responded well and their attitudes and perceptions improved, learners reported increased knowledge and skills and positive behavioural changes (product). Learning outcomes were reported in the domains of patient-centred care, collaborative attitudes and respect, mutual knowledge and understanding, collaborative decision making, communication, leadership, teamwork and reflexivity. CONCLUSIONS: This review gives insight into the high learning potential of intraprofessional activities. Many of the included studies relied on self-reported perceptions of change, therefore, future research should focus on generating more robust evidence including objectively examined outcome measures. This review offers a comprehensive overview of the factors that influence intraprofessional workplace learning in postgraduate medical education. Finally, we provide recommendations for enhancing intraprofessional learning in clinical practice.

Raising the Cut-Off Level of Anti-Tissue Transglutaminase Antibodies to Detect Celiac Disease Reduces the Number of Small Bowel Biopsies in Children with Type 1 Diabetes: A Retrospective Study.

OBJECTIVE: To study the optimal cut-off value for anti-tissue transglutaminase type 2 IgA antibodies (TG2A) in serum to select for diagnostic small bowel biopsies for celiac disease in children with type 1 diabetes mellitus. STUDY DESIGN: Children with type 1 diabetes mellitus with elevated TG2A titers and duodenal biopsies performed during the course of their diabetes treatment were included. Anti-endomysial antibodies were recorded if present. The optimal TG2A cut-off value, expressed as the ratio between obtained value and upper limit of normal (ULN), was determined using receiver operating characteristic curve analysis and compared with the cut-off value used in the European Society for Pediatric Gastroenterology, Hepatology and Nutrition guidelines in terms of sensitivity, specificity, positive and negative predictive value. RESULTS: We included 63 children. The optimal cut-off value for performing biopsies is demonstrated to be 11 times the ULN. Raising the cut-off value from 3 times the ULN to 11 times the ULN changed sensitivity from 96% to 87% and increased specificity from 36% to 73%, increased the positive predictive value from 88% to 94% and lowered negative predictive value from 67% to 53%. The percentage of normal histology was decreased from 12% to 6%. CONCLUSIONS: Increasing the TG2A cut-off value for performing duodenal biopsies in children with type 1 diabetes mellitus and suspected celiac disease leads to a substantial reduction of unnecessary biopsies. We advocate to adapt the European Society for Pediatric Gastroenterology, Hepatology and Nutrition 2012 guidelines for this group of children, including monitoring patients with TG2A levels of less than 11 times the ULN over time.

Three years of growth hormone treatment in young adults with Prader-Willi Syndrome previously treated with growth hormone in childhood: Effects on glucose homeostasis and metabolic syndrome.

CONTEXT: Growth hormone (GH) has been approved for children with Prader-Willi syndrome (PWS) and significantly improves body composition in adults with PWS. Adults with PWS are predisposed to develop impaired glucose tolerance (IGT) and diabetes mellitus type 2 (DMT2). Continuation of GH maintains body composition, but GH is known to induce insulin resistance, which might affect glucose homeostasis. Studies on long-term effects of GH treatment in adults are very limited. OBJECTIVE: To investigate effects of 3 years of GH treatment on glucose homeostasis and prevalence of metabolic syndrome (MS) in adults with PWS. DESIGN: Open-label, prospective study. PATIENTS: 43 young adults with PWS. SETTING: Dutch PWS Reference Center. MAIN OUTCOME MEASURES: Glucose and insulin during oral glucose tolerance test. RESULTS: Estimated mean (95% CI) fasting glucose and insulin levels remained stable during 3 years of GH treatment. Glucose being 4.6 (4.4-4.8) mmol/l at start and 4.7 (4.6-4.9) mmol/l after 3 years (P = .07); insulin being 59.5 (45.2-75.8) pmol/l and 56.7 (45.2-69.6) pmol/l resp. (P = .72). Sex, ethnicity and fat mass percentage were significantly associated with fasting glucose levels, while IGF-I or GH-dose were not. Blood pressure, lipids and prevalence of MS remained stable during 3 years of GH. IGT prevalence was variable over time, six patients had IGT at start and eleven after 3 years of GH. One patient developed DMT2. However, prevalence of IGT or DMT2 was not significantly higher after 3 years than at study start. CONCLUSIONS: Three years of GH treatment in adults with PWS does not impair glucose homeostasis and does not lead to an increased prevalence of DMT2.

Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome.

OBJECTIVE: Some features of subjects with Prader-Willi syndrome (PWS) resemble those seen in growth hormone deficiency (GHD). Children with PWS are treated with growth hormone (GH), which has substantially changed their phenotype. Currently, young adults with PWS must discontinue GH after attainment of adult height when they do not fulfil the criteria of adult GHD. Limited information is available about the prevalence of GHD in adults with PWS. This study aimed to investigate the GH/insulin-like growth factor (IGF-I) axis and the prevalence of GHD in previously GH-treated young adults with PWS. DESIGN: Cross-sectional study in 60 young adults with PWS. MEASUREMENTS: Serum IGF-I and IGFBP-3 levels, GH peak during combined growth hormone-releasing hormone (GHRH)-arginine stimulation test. RESULTS: Serum IGF-I was <-2 standard deviation scores (SDS) in 2 (3%) patients, and IGFBP-3 was within the normal range in all but one patient. Median (IQR) GH peak was 17.8 µg/L (12.2; 29.7) [~53.4 mU/L] and below 9 µg/L in 9 (15%) patients. Not one patient fulfilled the criteria for adult GHD (GH peak < 9 µg/L and IGF-I < -2 SDS), also when BMI-dependent criteria were used. A higher BMI and a higher fat mass percentage were significantly associated with a lower GH peak. There was no significant difference in GH peak between patients with a deletion or a maternal uniparental disomy (mUPD). CONCLUSIONS: In a large group of previously GH-treated young adults with PWS, approximately 1 in 7 exhibited a GH peak <9 µg/L during a GHRH-arginine test. However, none of the patients fulfilled the consensus criteria for adult GHD.

Ovarian follicles of young patients with Turner's syndrome contain normal oocytes but monosomic 45,X granulosa cells.

STUDY QUESTION: What is the X chromosomal content of oocytes and granulosa cells of primordial/primary (small) follicles and stromal cells in ovaries of young patients with Turner's syndrome (TS)? SUMMARY ANSWER: Small ovarian follicles were detected in one-half of the patients studied, and X chromosome analysis revealed that most oocytes were normal, granulosa cells were largely monosomic, while stromal cells showed a high level of mosaicism. WHAT IS KNOWN ALREADY: Most women with TS experience a premature reduction or complete loss of fertility due to an accelerated loss of gametes. To determine whether fertility preservation in this group of patients is feasible, there is a strong need for information on the X chromosomal content of ovarian follicular and stromal cells. STUDY DESIGN, SIZE, DURATION: Small follicles (<50 µm) and stromal cells were isolated from ovarian tissue of young TS patients and analysed for their X chromosomal content. In addition to ovarian cells, several other cell types from the same patients were analysed. PARTICIPANTS/MATERIALS, SETTING, METHODS: After unilateral ovariectomy, ovarian cortex tissue was obtained from 10 TS patients (aged 2-18 years) with numerical abnormalities of the X chromosome. Ovarian cortex fragments were prepared and cryopreserved. One fragment from each patient was thawed and enzymatically digested to obtain stromal cells and primordial/primary follicles. Stromal cells, granulosa cells and oocytes were analysed by FISH using an X chromosome-specific probe. Extra-ovarian cells (lymphocytes, buccal cells and urine cells) of the same patients were also analysed by FISH. Ovarian tissue used as control was obtained from individuals undergoing oophorectomy as part of their gender affirming surgery. MAIN RESULTS AND THE ROLE OF CHANCE: Ovarian follicles were detected in 5 of the 10 patients studied. A method was developed to determine the X chromosomal content of meiosis I arrested oocytes from small follicles. This revealed that 42 of the 46 oocytes (91%) that were analysed had a normal X chromosomal content. Granulosa cells were largely 45,X but showed different levels of X chromosome mosaicism between patients and between follicles of the same patient. Despite the presence of a low percentage (10-45%) of 46,XX ovarian cortex stromal cells, normal macroscopic ovarian morphology was observed. The level of mosaicism in lymphocytes, buccal cells or urine-derived cells was not predictive for mosaicism in ovarian cells. LIMITATIONS, REASONS FOR CAUTION: The results are based on a small number (n = 5) of TS patient samples but provide evidence that the majority of oocytes have a normal X chromosomal content and that follicles from the same patient can differ with respect to the level of mosaicism of their granulosa cells. The functional consequences of these observations require further investigation. WIDER IMPLICATIONS OF THE FINDINGS: The results indicate that despite normal ovarian and follicular morphology, stromal cells and granulosa cells of small follicles in patients with TS may display a high level of mosaicism. Furthermore, the level of mosaicism in ovarian cells cannot be predicted from the analysis of extra-ovarian tissue. These findings should be considered by physicians when offering cryopreservation of ovarian tissue as an option for fertility preservation in young TS patients. STUDY FUNDING/COMPETING INTEREST(S): Unconditional funding was received from Merck B.V. The Netherlands (Number A16-1395) and the foundation 'Radboud Oncologie Fonds' (Number KUN 00007682). The authors have no conflicts of interest. TRIAL REGISTRATION NUMBER: NCT03381300.

Karyotype - Phenotype Associations in Patients with Turner Syndrome.

Variation in karyotype may be associated with the phenotype of patients with Turner syndrome (TS). Our objective was to identify these associations between karyotype and phenotype in TS patients. This study was part of the European multicentre dsd-LIFE study. We evaluated the associations between different karyotypes of TS patients and age at diagnosis, Turner stigmata, cardiac/renal involvement and gonadal function. Information was available for 328 TS patients. Participants had a monosomy 45,X (46%), mosaicism 45,X/46,XX (10%), karyotype with isochromosome (18%), or other karyotype (26%). The clinical signs of TS were the most severe in patients with monosomy 45,X and the least severe in patients with mosaicism 45,X/46,XX. Patients with isochromosome and y-material showed an intermediate phenotype. Despite the more severe features in patients with monosomy 45,X, the median age at diagnosis was only slightly lower compared to patients with other karyotypes, which suggests opportunities for improvement of knowledge and diagnostics.

Bone mineral density in young adults with Prader-Willi syndrome: A randomized, placebo-controlled, crossover GH trial.

CONTEXT: The prevalence of osteoporosis is increased in adults with Prader-Willi syndrome (PWS). In children with PWS, growth hormone (GH) treatment has beneficial effects on bone mineral density (BMD). BMD might deteriorate after cessation of GH at adult height (AH), while continuing GH might maintain BMD. OBJECTIVE: To investigate the effects of GH vs placebo, and furthermore the effects of sex steroid replacement therapy (SSRT), on BMD in GH-treated young adults with PWS who had attained AH. DESIGN: Two-year, randomized, double-blind, placebo-controlled, crossover GH study. PATIENTS: Twenty-seven young adults with PWS were stratified for gender and BMI and then randomly and blindly assigned to receive GH (0.67 mg/m2 /day) or placebo for 1 year, after which they crossed over to the alternative treatment for another year. MEASUREMENTS: Bone mineral density of the total body (BMDTB ) and lumbar spine (BMDLS ) SDS were measured by dual-energy x-ray absorptiometry. RESULTS: At AH, BMDTB SDS was significantly lower compared to healthy peers (P < .01), while BMADLS SDS was similar. Both BMDTB SDS and BMADLS SDS were similar during 1 year of GH vs 1 year of placebo. In hypogonadal young adults without SSRT, BMDTB SDS and BMADLS SDS decreased during the 2-year study (P = .11 and P = .01), regardless of GH or placebo, while BMDTB SDS increased in those with SSRT (P < .01). CONCLUSIONS: Compared to GH treatment, 1 year of placebo after attainment of AH does not deteriorate BMD SDS in young adults with PWS. In addition, our data suggest that GH is not able to prevent the decline in BMD SDS in hypogonadal young adults with PWS, unless it is combined with SSRT.

Pancytopenia and Hypothyroidism in a Patient With Leukemic Infiltration of the Thyroid as the First Presentation of Acute Lymphoblastic Leukemia.

We report the case of a 16-year-old female patient with hypothyroidism, goiter, and pancytopenia. Biopsy of the thyroid showed leukemic infiltration. After confirmation of the diagnosis of B-lymphoblastic leukemia, treatment was started. Histologic follow-up at day 33 and 79 showed no residual signs of leukemic infiltration. Hypothyroidism persisted despite successful antileukemic treatment. Leukemic infiltration of the thyroid should be considered as a differential diagnosis in patients with hypothyroidism, goiter, and pancytopenia. We suggest that follow-up of thyroid function and histology should be incorporated in the follow-up of rare patients with acute lymphoblastic leukemia with thyroid infiltration.

Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature.

Congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is a genetic disorder that leads to hypocortisolism, hyperandrogenism and, in the most severe forms, also to hypoaldosteronism. Girls with classic CAH are born with virilized external genitalia. Prenatal dexamethasone (DXM) treatment can reduce virilization but may have side effects for mother and fetus. We present the first case of a girl who was born with CAH and an orofacial cleft. She was treated with prenatal DXM to prevent virilization. Oral clefts have to be considered as a potential side effect of prenatal DXM treatment.

Assessment of psychosocial problems in children with type 1 diabetes and their families: the added value of using standardised questionnaires in addition to clinical estimations of nurses and paediatricians.

AIMS AND OBJECTIVES: To investigate the assessment of psychosocial problems in children with type 1 diabetes by means of clinical estimations made by nurses and paediatricians and by using standardised questionnaires. BACKGROUND: Although children with type 1 diabetes and their parents show increased risk for psychosocial problems, standardised assessment of these problems lacks in diabetes care. DESIGN: By comparing these different modes of assessment, using a cross-sectional design, information about the additional value of using standardised questionnaires is provided. METHODS: Participants were 110 children with type 1 diabetes (aged 4-16), their parents, and healthcare professionals. Children filled out the Strengths and Difficulties Questionnaire and the Paediatric Quality of Life Inventory, Diabetes Module. Parents filled out the Strengths and Difficulties Questionnaire parent-report and the Parenting Stress Index. Independently, nurses and paediatricians filled out a short questionnaire, which assessed their clinical estimations of the children's psychosocial problems and quality of life, and parents' levels of parenting stress. Reports of children and parents were compared to clinical estimations. RESULTS: Children in our sample showed more psychosocial problems and lower health-related quality of life than their healthy peers. In approximately half of the children, dichotomous estimations by healthcare professionals and dichotomised reports by patients and parents were in agreement. In 10% of the children, no psychosocial problems were present according to professionals' estimations, although patients and parents-reported psychosocial problems. In 40%, psychosocial problems were present according to professionals' estimations, although parents and patients did not report psychosocial problems. CONCLUSION: Children with type 1 diabetes show more psychosocial problems than healthy children. Professionals seem to tend towards overestimating psychosocial problems. RELEVANCE TO CLINICAL PRACTICE: Extending the assessment of psychosocial problems with routine screening on patient-reported outcomes, using validated questionnaires, could be of additional value in tailoring care to the needs of the individual child and parents.

Navigating fertility dilemmas across the lifespan in girls with Turner syndrome-a scoping review.

BACKGROUND: Girls with Turner syndrome (TS) lack a partial or complete sex chromosome, which causes an accelerated decline of their ovarian reserve. Girls have to deal with several dilemmas related to their fertility, while only a limited number of them are referred to a fertility specialist and counselled about options of family planning on time. OBJECTIVE AND RATIONALE: This scoping review provides an update of the literature on fertility in girls with TS throughout their lifespan and aims to propose a clinical practice guideline on fertility in TS. SEARCH METHODS: Databases of PubMed, Embase, and Web of science were searched using the following key terms: Turner syndrome, fertility, puberty, pregnancy, sex-hormones, karyotype, fertility preservation, assisted reproductive techniques, and counselling, alongside relevant subject headings and synonymous terms. English language articles published since 2007 were critically reviewed. Pregnancies after using donated oocytes and data about girls with TS with Y-chromosomal content were excluded. OUTCOMES: This search identified 1269 studies of which 120 were extracted for the review. The prevalence of natural conception ranged from 15% to 48% in women with 45,X/46,XX, 1% to 3% in women with 45,X, and 4% to 9% in women with other TS karyotypes. When assessing a girl's fertility potential, it was crucial to determine the karyotype in two cell lines, because hidden mosaicism may exist. In addition to karyotype, assessment of anti-Müllerian hormone (AMH) played a significant role in estimating ovarian function. Girls with AMH above the detection limit were most likely to experience spontaneous thelarche, menarche, and ongoing ovarian function during the reproductive lifespan. Fertility preservation became more routine practice: vitrification of oocytes was reported in 58 girls with TS and a median of five oocytes were preserved per stimulation. Ovarian tissue cryopreservation has demonstrated the presence of follicles in approximately 30% of girls with TS, mostly in girls with mosaic-TS, spontaneous puberty, and AMH above the detection limit. Although girls and their parents appreciated receiving counselling on fertility in TS, only one in ten girls with TS received specialized counselling. Unfamiliarity with fertility preservation techniques or uncertainties regarding the eligibility of a girl for fertility preservation constituted barriers for healthcare professionals when discussing fertility with girls with TS. WIDER IMPLICATIONS: There currently is a high demand for fertility preservation techniques in girls with TS. A reliable prognostic model to determine which girls with TS might benefit from fertility preservation is lacking. Only a minority of these girls received comprehensive fertility counselling on the full spectrum of fertility, including uncertainties of fertility preservation, pregnancy risks, and alternatives, such as adoption. Fertility preservation could be a viable option for girls with TS. However, the question remains whether enough oocytes can be obtained for a realistic prospect of a live birth. It is important that girls and parents are empowered with the necessary information to make a well-informed decision.

[Unexpected spontaneous pregnancy in women with Turner syndrome]. / Onverwachte spontane zwangerschap bij vrouwen met het syndroom van Turner.

Most women with Turner syndrome have premature ovarian insufficiency from childhood. The chance of a spontaneous pregnancy is higher in women with a Turner mosaicism and in women who have had a spontaneous menarche. This chance is estimated at 5-8%. We discuss 2 women with Turner mosaicism who were misinformed about their chances of a spontaneous pregnancy. In both cases, puberty induction was started because of suspected gonadal dysgenesis but in retrospect only puberty was delayed, while ovarian function was still good at that time. The cases presented show that in long-term follow-up there is a pitfall in adopting incorrect assumptions. Critical re-evaluation of medical data during childhood and adolescence is therefore essential. The impact of infertility is great in women with Turner syndrome. Because pregnancy has an increased risk of complications, an unplanned pregnancy should be prevented.