Pediatric endocrinology through syndromes

Tornese, Gianluca; Pellegrin, Maria Chiara; Barbi, Egidio; Ventura, Alessandro

doi:10.1016/j.ejmg.2019.01.004

Cited by 7 publications

(2 citation statements)

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“…Concerns about endocrinological problems are a common cause of parents' anxiety ( 2 , 3 ). Therefore, referrals from primary care physicians to pediatric endocrinologists represent a first critical step in the specialist care coordination ( 4 – 6 ): while over-referrals lead to inefficient use of resources and poor patient experience, high-quality referrals increase the likelihood that the specialist can provide timely and efficient care ( 7 ).…”

Section: Introductionmentioning

confidence: 99%

Pattern and Features of Pediatric Endocrinology Referrals: A Retrospective Study in a Single Tertiary Center in Italy

et al. 2020

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Introduction: The knowledge of the pattern and the features of pediatric endocrinology referrals is crucial to optimize resources and guide public health interventions. We explored the numbers and the reasons for referral to a pediatric endocrinology outpatient clinic and investigated their features in terms of assignment of priority ranks, sex, age differences, the prevalence of pathological findings among referred cases, and the agreement among referrals, final diagnosis, treatment, and follow-up. Methods: Retrospective study with data collection for pediatric endocrinology first visits between November 2012 and February 2019 in a tertiary center. Results: A total of 1930 first visits were performed with an overall number of referrals of 2,165, and an increasing trend over the years. The most frequent referral reasons were slow growth, precocious puberty, and obesity; 14% of visits were classified as “urgent” (<7 days), 35% as “deferrable” (<30 days), and 51% as “planned” (<180 days). Sex and age differences among referrals were detected, with criticality in the appropriate timing for referral. Thirty-eight percent of patients had pathological findings. In 4% of the cases the final diagnosis was not concordant with the reason for referral. Treatment was prescribed in 35% of cases, and 67% returned at least for one follow-up visit. Conclusion: The study highlighted the need to target medical education of primary care on the definition of priority ranks, the need for more extended observation periods for subclinical or para-physiological conditions, the appropriate timing for referral, based on the definition of conditions or the best window of intervention.

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Section: Introductionmentioning

confidence: 99%

Pattern and Features of Pediatric Endocrinology Referrals: A Retrospective Study in a Single Tertiary Center in Italy

et al. 2020

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“…Cases of AD-SS should not be missed, since the identi cation of a causative gene can support treatment decisions, allowing for a more accurate prediction of the speci c response to growth hormone treatment, evaluating the recurrence risk in the family, and enabling the recognition of other features in case of a syndrome. 12 In conclusion, this study underlines that adequate measurement and consideration of both parents' height should be part of the clinical evaluation of every children with SS and new de nitions should be used to adequately detect and approach the cases of FSS, giving a concrete chance to characterize better and treat their condition. Distribution of children referred for short stature (SS); those with actual SS (height ≤-2 SDS); children with familial short stature (FSS) based on de nition (TH-FSS, target height related familial short stature, when child height was ≤-2 and included in the range of TH (i.e.…”

Section: Discussionmentioning

confidence: 86%

Definition and prevalence of familial short stature

Grigoletto

Occhipinti

Pellegrin

et al. 2020

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Objective A significant portion of familial short stature (FSS) cases may not be recognized in clinical practice if the parents’ height is not adequately investigated. This study aimed to verify the prevalence of different definition of FSS on a cross-sectional cohort of children referred for short stature (SS) when their height and that of both parents were measured. Methods We consecutively enrolled 65 individuals referred for SS when both parents were present. We defined “target height related short stature” (TH-SS) when child height SDS was ≤-2 and included in the range of TH (i.e. TH SDS ± 1.5) and “autosomal dominant short stature” (AD-SS) when child and at least one parent heights were ≤-2 SDS. Results On 65 children referred for SS, 48 individuals had a height ≤-2 SDS. Based on measured parents’ heights, 24 children had TH-SS and 16 children AD-SS; 12 children were identified by both TH-SS and AD-SS, while 12 children with TH-SS did not have any of parents with SS. When considering reported parents’ heights, 3 out of 24 children with TH-FSS and 9 out of 16 with AD-FSS would have been missed. Conclusion This study underlines that adequate measurement and consideration of both parents’ height should be part of the clinical evaluation of every children with SS and new definitions should be used to detect and adequately approach the cases of FSS, since the identification of a causative gene in AD-SS can support treatment and follow-up decisions.

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