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- Personalizing Early-Stage Type 1 Diabetes in ChildrenPublication . Limbert, C; von dem Berge, T; Danne, T
- Height Benefit of GnRH Agonists After Age 8 in a Portuguese Cohort of Central Precocious PubertyPublication . Castro, C; Espada, F; Leite, AL; Antunes, A; Robalo, B; Amaral, D; Galo, E; Castro, S; Ferreira, S; Limbert, CObjective: Idiopathic central precocious puberty (iCPP) is common in paediatric endocrinology. Gonadotropin-releasing hormone agonists (GnRHa) are safe, but the effect on final height and the ideal timing for treatment remains controversial. This study aims to assess the effectiveness of GnRHa on growth outcomes in girls with iCPP treated before and after the age of 8 years old. Design and patients: This retrospective longitudinal study evaluated data from Portuguese girls with iCPP who completed treatment between 2010 and 2021. Measurements: Auxological and clinical characteristics were compared according to age at treatment onset. Results: A cohort of 134 girls with iCPP, was divided into early treatment (ET) (<8 years, n = 48) and later treatment (LT) groups (≥8 years, n = 86). In both groups, most children presented with Tanner II and III. Tanner IV was more frequent in LT group (p = .003). At the end of treatment, predicted adult height increased in both groups (ET p = .032; LT p = .04) and bone age significantly slowed down in all participants (p = .008, p = .034). The height gain was greater in the ET group, but without significant differences (p = .065). Conclusions: Treatment with GnRHa improved final height in all girls with iCPP, even when initiated after 8 years. To achieve better outcomes, treatment should be provided promptly after diagnosis
- The COVID-19 Pandemic Affects Seasonality, With Increasing Cases of New-Onset Type 1 Diabetes in Children, From the Worldwide SWEET RegistryPublication . Reschke, F; Lanzinger, S; Herczeg, V; Prahalad, P; Schiaffini, R; Mul, D; Clapin, H; Zabeen, B; Pelicand, J; Phillip, M; Limbert, C; Danne, T; Alonso, GT; Rhodes, ET; Davis, E; Veeze, HJ; Maahs, D; Cardona-Hernandez, R; Sumnik, Z; Corathers, S; Bratina, N; Danne, T; Gevers, E; Imane, Z; Piccini, B; Forsander, G; Pacaud, D; Maffeis, C; Campbell, F; Bonfanti, R; de Sanctis, L; Krone, RE; Toth-Heyn, P; Witsch, M; Arsanoglu, I; Jefferies, C; Landry, A; Beltrand, J; Amed, S; Rami-Merhar, B; Barat, P; Szypowska, A; Zabeen, B; Casteels, K; Savova, R; Cherubini, V; de Bock, M; Todorovic, S; Limbert, C; Moravej, H; Pozgaj Sepac, M; Mazur, A; Gerasimidou-Vazeou, A; Iotova, V; O’Riordan, S; Chobot, A; Herbst, A; Ngwu, U; Cody, D; Birkebæk, NH; Hanas, R; Goksen, D; Sarda, A; Chobot, J; Mirante, A; Richmond Padilla, E; Tsiroukidou, K; Saboo, B; Kanaka-Gantenbein, C; Schiaffini, R; Foskett, D; Jali, S; Verkauskiene, R; Castro-Correia, C; Kumar Guness, P; Pelicand, J; Cotterill, A; Kumari Mohan, M; Spehar Uroic, A; Goss, P; Svensson, J; Ramchandani, GD; Coutant, R; Mantilla, L; Sima, A; Hyun Kim, J; Galli-Tsinopoulou, A; Ribeiro, R; O’Gorman, C; Fonna, H; Bratke, H; El Habashy, S; Gokalani, R; Scharf Pinto, M; Chavda, VObjective: To analyze whether the coronavirus disease 2019 (COVID-19) pandemic increased the number of cases or impacted seasonality of new-onset type 1 diabetes (T1D) in large pediatric diabetes centers globally. Research design and methods: We analyzed data on 17,280 cases of T1D diagnosed during 2018-2021 from 92 worldwide centers participating in the SWEET registry using hierarchic linear regression models. Results: The average number of new-onset T1D cases per center adjusted for the total number of patients treated at the center per year and stratified by age-groups increased from 11.2 (95% CI 10.1-12.2) in 2018 to 21.7 (20.6-22.8) in 2021 for the youngest age-group, <6 years; from 13.1 (12.2-14.0) in 2018 to 26.7 (25.7-27.7) in 2021 for children ages 6 to <12 years; and from 12.2 (11.5-12.9) to 24.7 (24.0-25.5) for adolescents ages 12-18 years (all P < 0.001). These increases remained within the expected increase with the 95% CI of the regression line. However, in Europe and North America following the lockdown early in 2020, the typical seasonality of more cases during winter season was delayed, with a peak during the summer and autumn months. While the seasonal pattern in Europe returned to prepandemic times in 2021, this was not the case in North America. Compared with 2018-2019 (HbA1c 7.7%), higher average HbA1c levels (2020, 8.1%; 2021, 8.6%; P < 0.001) were present within the first year of T1D during the pandemic. Conclusions: The slope of the rise in pediatric new-onset T1D in SWEET centers remained unchanged during the COVID-19 pandemic, but a change in the seasonality at onset became apparent.
- Case Report: Fourth Branchial Cleft Cyst: A Case of Acute Suppurative ThyroiditisPublication . Caseiro Alves, ME; Nunes, A; Galhardo, JThis case report presents a 4 year-old-female patient with a neck mass who was diagnosed with an infected fourth branchial cleft cyst with left thyroid lobe involvement through fistulation. The case emphasizes the importance of considering uncommon etiologies, such as congenital anomalies, as a differential diagnosis when evaluating pediatric neck masses. The patient was prescribed broad-spectrum antibiotics, which led to the regression of the mass and inflammatory signs. Close follow-up in endocrinology and otorhinolaryngology appointments was maintained, and after 7 months, hypoplasia of the left lobe was observed. Thyroid function was reevaluated, and after two years, no recurrences were noted. The case highlights the significance of a comprehensive examination and assessment of corresponding clinical features, which can significantly reduce the rate of misdiagnoses and achieve an individualized diagnosis.
- Preoperative Location of Parathyroid Adenomas in Primary Hyperparathyroidism: the Role of Cervical Doppler UltrasoundPublication . Amaral, S; Rego, T; Palha, A; Carrilho, N; Coutinho, JM; Tavares, P; Silva-Nunes, JIntroduction: Parathyroid adenoma is the most frequent cause of primary hyperparathyroidism. In recent years, the preoperative location of parathyroid adenomas allowed minimally invasive surgical techniques that have become preferred over the traditional bilateral neck exploration. The more recent guidelines on this subject highlight the role of nuclear medicine imaging tests. The aim of this study was to review the current role of Doppler ultrasound (US) in assessing the preoperative location of parathyroid adenomas in patients with primary hyperparathyroidism. Material and methods: Retrospective study based on data from patients with primary hyperparathyroidism that underwent parathyroidectomy between January 2013 and January 2022 at the Centro Hospitalar Universitário Lisboa Central. Statistical analysis was performed with IBM SPSS Statistics, version 26.0.0.0®. Results: Parathyroidectomy was performed in 171 patients (77.8% females) with primary hyperparathyroidism. Cervical Doppler ultrasound was the most performed test (64.3%, n = 110) for preoperative location and detected a suspicious lesion in 98 patients (89.1%). The preoperative location of the parathyroid adenomas was assessed through the Doppler ultrasound and was compared with the surgical reports and histological findings; a correct identification was made in 76 patients (77.6%). Doppler ultrasound slightly underestimated the mean adenoma size (18.1 ± 7.7 mm preoperative versus 22 ± 8.4 mm postoperative). Calcium, parathyroid hormone levels, adenoma size and concomitant presence of thyroid nodules did not affect the accuracy of Doppler ultrasound. Conclusion: Doppler ultrasound showed high diagnostic accuracy even in patients with nodular thyroid disease regardless of calcium and parathyroid hormone levels and adenoma size. Furthermore, its safety, affordability and availability should favor its use as first line test in primary hyperparathyroidism to assess the preoperative location of parathyroid adenomas.
- ISPAD Clinical Practice Consensus Guidelines 2022: The delivery of ambulatory diabetes care to children and adolescents with diabetesPublication . Limbert, C; Tinti, D; Malik, F; Kosteria, I; Messer, L; Jalaludin, YM; Benitez‐Aguirre, P; Biester, S; Corathers, S; von Sengbusch, S; Marcovecchio, ML
- Diabetes-Related Antibody-Testing is a Valuable Screening Tool for Identifying Monogenic Diabetes – A Survey from the Worldwide SWEET RegistryPublication . Limbert, C; Lanzinger, S; deBeaufort, C; Iotova, V; Pelicand, J; Prieto, M; Schiaffini, R; Šumnik, Z; Pacaud, DAims: To evaluate access to screening tools for monogenic diabetes in paediatric diabetes centres across the world and its impact on diagnosis and clinical outcomes of children and youth with genetic forms of diabetes. Methods: 79 centres from the SWEET diabetes registry including 53,207 children with diabetes participated in a survey on accessibility and use of diabetes related antibodies, c-peptide and genetic testing. Results: 73, 63 and 62 participating centres had access to c-peptide, antibody and genetic testing, respectively. Access to antibody testing was associated with higher proportion of patients with rare forms of diabetes identified with monogenic diabetes (54 % versus 17 %, p = 0.01), lower average whole clinic HbA1c (7.7[Q1,Q2: 7.3-8.0]%/61[56-64]mmol/mol versus 9.2[8.6-10.0]%/77[70-86]mmol/mol, p < 0.001) and younger age at onset (8.3 [7.3-8.8] versus 9.7 [8.6-12.7] years p < 0.001). Additional access to c-peptide or genetic testing was not related to differences in age at onset or HbA1c outcome. Conclusions: Clinical suspicion and antibody testing are related to identification of different types of diabetes. Implementing access to comprehensive antibody screening may provide important information for selecting individuals for further genetic evaluation. In addition, worse overall clinical outcomes in centers with limited diagnostic capabilities indicate they may also need support for individualized diabetes management.
- Intrathyroidal Ectopic Thymus: A Case SeriesPublication . Fernandes, AC; Fitas, AL; Soares, J; Nunes, A; Lopes, L
- Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe HyperparathyroidismPublication . Padeira, G; Cavaco, BM; Virella, D; Sá-Couto, H; Lopes, MLHeterozygous inactivating pathogenic variants of the calcium-sensing receptor encoding gene cause autosomal dominant familial hypocalciuric hypercalcemia, whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism, a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with familial hypocalciuric hypercalcemia/neonatal severe hyperparathyroidism as well as the long-term follow-up of the proband. The newborn was admitted due to progressive hypotonia, feeding refusal, and dehydration. Serum calcium and parathormone levels were markedly increased. Radiological evaluation revealed osteopenia and several fractures. Total parathyroidectomy with the reimplantation of a quarter of one gland was performed. At 15 years old, she is clinically well, has normal calcium levels, and detectable parathormone values while under calcium and α-calcidiol treatment. Calcium-sensing receptor encoding gene sequencing revealed a germline homozygous nonsense pathogenic variant later confirmed as inherited.
- Continuous Glucose Monitoring Use and Glucose Variability in Very Young Children with Type 1 Diabetes (VibRate) A Multinational Prospective Observational Real-World Cohort Study.Publication . Dovc, K; Van Name, M; Jenko Bizjan, B; Rusak, E; Piona, C; Yesiltepe‐Mutlu, G; Mentink, R; Frontino, G; Macedoni, M; Ferreira, SH; Serra‐Caetano, J; Galhardo, J; Pelicand, J; Silvestri, F; Sherr, J; Chobot, A; Biester, R