International Journal of Pediatric Endocrinology最新文献

Background: There is a paucity of tools that can be used in routine clinical practice to assess the psychosocial impact of Disorders/Differences of Sex Development (DSD) on parents and children.

Objective: To evaluate the use of short Parent Self-Report and Parent Proxy-Report questionnaires that can be used in the outpatient setting.

Methods: Previously validated DSD-specific and generic items were combined to develop a Parent Self-Report questionnaire and a Parent Proxy-Report questionnaire for children under 7 years. Of 111 children approached at one tertiary paediatric hospital, the parents of 95 children (86%) with DSD or other Endocrine conditions completed these questionnaires.

Results: Questionnaires took under 10 min to complete and were found to be easy to understand. Compared to reference, fathers of children with DSD reported less stress associated with Clinic Visits (p = 0.02) and managing their child's Medication (p = 0.04). However, parents of children with either DSD or other Endocrine conditions reported more symptoms of Depression (p = 0.03). Mothers of children with DSD reported greater Future Concerns in relation to their child's condition (median SDS - 0.28; range - 2.14, 1.73) than mothers of children with other Endocrine conditions (SDS 1.17; - 2.00, 1.73) (p = 0.02). Similarly, fathers of children with DSD expressed greater Future Concerns (median SDS -1.60; - 4.21, 1.00) than fathers of children with other Endocrine conditions (SDS 0.48; - 2.13, 1.52) (p = 0.04).

Conclusion: DSD was associated with greater parental concerns over the child's future than other Endocrine conditions. Brief parent-report tools in DSD can be routinely used in the outpatient setting to assess and monitor parent and patient needs.

Background: The transition process from pediatric to adult care in individuals with T1D has long-term ramifications on health outcomes. Recognition of differences in care delivery and changes made in management during this time may improve the process. We hypothesized that pediatric providers would be less likely to address T1D-related comorbidities than their adult counterparts, highlighting opportunities to strengthen care.

Methods: A retrospective chart review of patients aged 16-21 years diagnosed with T1D before age 18 was performed. Data on diagnosis, screening, and management of hypertension, dyslipidemia, microalbuminuria, retinopathy, and neuropathy were collected for 1 year before and 1 year after transition to adult care. The 'ADA Standards of Medical Care in Diabetes' were used to determine adherence to the above parameters. Data before and after transition was compared by Fischer's Exact and Exact McNemar tests.

Results: Complete medical records for 54 subjects were reviewed before and after transition from pediatric to adult care providers within a single academic medical system (52% male; 78% Caucasian). Transition to adult care occurred at a mean age of 18 years. Mean length of transition was 7.8 months with no significant change in an individual's HbA1c over that time. Over the transition period, there was no difference in diagnoses of hypertension or the use of anti-hypertensive. Adherence to lipid and retinopathy screening was similar across the transition period; however, adherence to microalbuminuria screening was higher after the transition to adult providers (p = 0.01). Neuropathy screening adherence was overall poor but also improved after transition (p < 0.001).

Conclusions: Overall, there were no significant changes in the diagnosis or management of several T1D-related comorbidities during the transition period in a small cohort of young adults with T1D. The transition length was longer than the recommended 3-months, highlighting an opportunity to improve the process. There was no deterioration of glycemic control over this time, although HbA1c values were above target. Adult providers had significantly higher rates of adherence to screening for microalbuminuria and neuropathy than their pediatric counterparts, but adherence for neuropathy was quite poor overall, indicating a need for practice improvement.

Background: Previous studies suggest significant ethnic and racial differences in clitoral sizes and anogenital distances in the newborn. This study aimed to document normative data on clitoral sizes and anogenital distances of apparently normal term female infants in Sagamu.

Methods: The study was a multi-center, cross-sectional descriptive research carried out among 317 female term infants within the first 72 h of life. Interviewer-based questionnaire was applied to obtain sociodemographic data, pregnancy and birth history. A sliding digital caliper was used for measurement. Data analysis was with SPSS version 20.0.

Results: The mean clitoral length was 6.7 ± 1.6 mm while the mean clitoral width was 5.6 ± 0.8 mm. The mean fourchette-clitoris distance, anus-clitoris distance and anus-fourchette distance were 21.9 ± 2.1 mm, 35.5 ± 2.5 mm and 17.0 ± 2.6 mm respectively. The anus-clitoris and anus-fourchette distances significantly correlated with the anthropometric parameters while the clitoral measurements did not.

Conclusion: The mean values recorded in this study were higher than observed in most previous studies. This simple, affordable and non-invasive evaluation could aid early diagnosis and treatment of female infants with potentially harmful conditions such as congenital adrenal hyperplasia.

Objectives: Consumers rely on online health information, particularly for unusual conditions. Disorders of Sex Development (DSD) are complex with some aspects of care controversial. Accurate web-based DSD information is essential for decision-making, but the quality has not been rigorously evaluated. The purpose of the present study was to assess the quality of online health information related to DSD presented by 12 pediatric institutions comprising the NIH-sponsored DSD-Translational Research Network (DSD-TRN).

Methods: DSD-TRN sites identified team webpages, then we identified linked webpages. We also used each institution search engine to search common DSD terms. We assessed webpages using validated tools: the Simple Measure of Gobbledygook (SMOG) determined reading level, the Patient Education Materials Assessment Tool (PEMAT) evaluated content for understandability and actionability, and the DISCERN tool assessed treatment decision-making information (for hormone replacement and surgery). We developed a "Completeness" measure which assessed the presence of information on 25 DSD topics.

Results: The SMOG reading level of webpages was at or above high-school grade level. Mean (SD) PEMAT understandability score for Team Pages and Team Links was 68% (6%); on average these pages met less than 70% of the understandability criteria. Mean (SD) PEMAT actionability score was 23% (20%); few patient actions were identified. The DISCERN tool determined that the quality of information related to hormone treatment and to surgery was poor. Sites' webpages covered 12-56% of the items on our Completeness measure.

Conclusions: Quality of DSD online content was poor, and would be improved by using a variety of strategies, such as simplifying word choice, using visual aids, highlighting actions patients can take and acknowledging areas of uncertainty. For complex conditions such as DSD, high-quality web-based information is essential to empower patients (and caregiver proxies), particularly when aspects of care are controversial.

Background: Low bone mineral density and an increased risk of appendicular and vertebral fractures are well-established consequences of Duchenne muscular dystrophy (DMD) and the risk of fractures is exacerbated by long-term glucocorticoid treatment. Monitoring of endocrine and skeletal health and timely intervention in at-risk patients is important in the management of children with DMD.

Methods: As part of the Norwegian Duchenne muscular dystrophy cohort study, we examined the skeletal maturation of 62 boys less than 18 years old, both currently glucocorticoid treated (n = 44), previously treated (n = 6) and naïve (n = 12). The relationship between bone age, height and bone mineral density (BMD) Z-scores was explored.

Results: The participants in the glucocorticoid treated group were short in stature and puberty was delayed. Bone age was significantly delayed, and the delay increased with age and duration of treatment. The difference in height between glucocorticoid treated and naïve boys was no longer significant when height was corrected for delayed skeletal maturation. Mean BMD Z-scores fell below - 2 before 12 years of age in the glucocorticoid treated group, with scores significantly correlated with age, duration of treatment and pubertal development. When BMD Z-scores were corrected for by retarded bone age, the increase in BMD Z-scores was significant for all age groups.

Conclusion: Our results suggest that skeletal maturation should be assessed in the evaluation of short stature and bone health in GC treated boys with DMD, as failing to consider delayed bone age leads to underestimation of BMD Z-scores and potentially overestimation of fracture risk.

Background: Early diagnosis of girls with Turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or ≥ two dysmorphic features. The aim of the study was to determine the age and clinical features at the time of presentation and to identify potential delays in diagnosis of TS.

Methods: Retrospective data on age at diagnosis, reason for karyotype analysis and presenting clinical features was collected from the medical records of 67 girls with TS.

Results: The mean age of diagnosis was 5.89 (±5.3) years ranging from pre-natal to 17.9 years (median 4.6 years). 10% were diagnosed antenatally, 16% in infancy, 54% in childhood (1-12 years) and 20% in adolescence (12-18 years). Lymphoedema (27.3%) and dysmorphic features (27.3%) were the main signs that triggered screening in infancy. Short stature was the commonest presenting feature in both childhood (52.8%) and adolescent (38.5%) years. At least 12% of girls fulfilled the criteria for earlier screening but were diagnosed only at a later age (mean age = 8.78 years). 13.4% of patients had classical 45XO karyotype and 52.3% of girls had a variant karyotype.

Conclusion: Majority of girls with TS were diagnosed only after the age of 5 years. Short stature triggered evaluation for most patients diagnosed in childhood and adolescence. Lack of dedicated community height-screening programme to identify children with short stature and lack of awareness could have led to potential delays in diagnosing TS. New strategies for earlier detection of TS are needed.

Background: Congenital hyperinsulinism (CHI) is the leading cause of persistent hypoglycemia in infants. The infants of diabetic mothers (IDMs) very frequently present with neonatal hypoglycemia associated to transient hyperinsulinism however the incidence of CHI in IDMs is unknown.

Case presentation: Here we report 2 cases of CHI where the diagnoses were challenged and delayed because both patients were infants of diabetic mothers (IDMs) and had concomitant complicated medical conditions. Case 1 was heterozygous for a likely pathogenic variant in KCNJ11(p.Arg206Cys), and Case 2 was heterozygous for a pathogenic HNF4A variant, (p.Arg267Cys). HNF4A-associated CHI is very rare, and this particular case had a clinical phenotype quite different from that of previously described HNF4A-CHI cases.

Conclusions: This case series is one of few reports in the medical literature describing two IDMs with persistent recurrent hypoglycemia secondary to CHI, and a different clinical phenotype for HNF4A-associated CHI. IDMs typically present with transient hyperinsulinism lasting no more than 2-3 days. Since being an IDM does not exclude CHI, this diagnosis should always be considered as the mostly likely etiology if neonatal hypoglycemia persists longer than the described time frame and genetic testing for CHI confirmation is highly suggested.