Journal of Clinical Research in Pediatric Endocrinology

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ISSN / EISSN : 1308-5727 / 1308-5735
Published by: Galenos (10.4274)
Total articles ≅ 743
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Journal of Clinical Research in Pediatric Endocrinology, Volume 13, pp 473-473; https://doi.org/10.4274/jcrpe.galenos.2021.e004

, Aliza Zidell, Helio Pedro, , Monique Losekoot, , Javier Aisenberg
Journal of Clinical Research in Pediatric Endocrinology, Volume 13, pp 461-467; https://doi.org/10.4274/jcrpe.galenos.2020.2020.0125

Abstract:
Our objective is to further expand the spectrum of clinical characteristics of the IGSF1 deficiency syndrome in affected males, which so far includes congenital central hypothyroidism, disharmonious pubertal development (normally timed testicular growth, but delayed rise of serum testosterone), macroorchidism, increased body mass index, decreased attentional control and a variable proportion of prolactin deficiency, transient partial growth hormone deficiency in childhood and increased growth hormone secretion in adulthood. We present a family in which the proband was diagnosed with central hypothyroidism (CeH) and low serum prolactin. Severe weight gain started at 2 years, up to a BMI of 42.3 at 13.9 years. Testicular enlargement (5-6 ml, 3.8-4.3 SDS) started at 3 years. A pathogenic variant was found in the IGSF1 gene: c.3411_3412del, p.(Tyr1137*). His brother was referred for short stature at age 13 years and was diagnosed with CeH, normal serum prolactin and IGF-1, and disharmonious puberty. In the four male relatives (the proband's brother and three cousins) who carried the variant (one adult), FT4 was below the lower limit of the reference range in two, and just above this limit in the other two cases. Three were overweight or obese, adolescents had disharmonious pubertal development and the adult had profound macroorchidism. In conclusion, male hemizygous carriers of a pathogenic IGSF1 variant can present with FT4 levels above the lower limit of the reference range, and severe early onset obesity or premature testicular growth are part of the phenotypic spectrum.
Ferda Evin, Eren Er, , Arzu Jalilova, , , , Şükran Darcan,
Journal of Clinical Research in Pediatric Endocrinology, Volume 13, pp 468-472; https://doi.org/10.4274/jcrpe.galenos.2020.2020.0160

Abstract:
The current COVID-19 pandemic has forced health care teams to look for alternative approaches to manage a great number of children with diabetes not only in rural but also in urban locations. Our aim in this COVID-19 pandemic was to provide information about the follow-up of new onset type 1 diabetes (T1D) patients and to discuss the integration of telemedicine into routine clinical care in the long term. The changes in Coefficient of variation (CV), standard deviation (SD); percentage of time in range (TIR), time below range (TBR) and time above range (TAR) were evaluated in 8 patients with new-onset T1D diagnosed in Pediatric Diabetes division of Ege University, during COVID-19 pandemic over a period of two-months follow-up using telemedicine system. Median follow-up time was 51 (24-66) days. Two of the patients were using low glucose suspend system and 6 were on multiple dose daily injection therapy (MDI). Target TIR values were achieved in 7 patients in the last televisit and according to last consensus suggestions' TBR <70 mg/dl (3.9 mmol/l) (level 1 hypoglycemia) of <4% and a TBR <54 mg/dl (3.0 mmol/l) (level 2 hypoglycemia) of <1% were achieved in all patients. Seven patients achieved a CV of < 36 % in their last televisit. Telemedicine as an alternative follow-up tool during unusual circumstances such pandemics, even in countries where it is not routinely used, could be beneficial to achieve optimum glycemic control in patients with new-onset T1D.
Özlem Nalbantoğlu, , Gülçin Arslan, Özge Köprülü,
Journal of Clinical Research in Pediatric Endocrinology, Volume 13, pp 426-432; https://doi.org/10.4274/jcrpe.galenos.2021.2021.0047

Abstract:
The aim of this study was to evaluate the efficiency of buccal spray form of vitamin D compared to single oral dose (stoss therapy) and oral drops therapy in the treatment of vitamin D deficiency. Ninety healthy children and adolescents (3-18 years) with vitamin D deficiency [serum level of 25-hydroxyvitamin D (25OHD) < 12ng/ml] were randomized to receive vitamin D3 buccal spray (2000 U, n=30, group I) for 6-week period, oral drops (2000 U, n=30, group II) for 6-week period and a single oral dose (300 000 U) vitamin D 3 (n=30, group III). Serum calcium, phosphorus, ALP, PTH and 25OHD levels of the patients were measured at baseline and after the treatment (42th day). All 3 groups had a significant increase in serum 25 hydroxyvitamin D (25OHD) concentrations (p<0.001). Serum 25OHD concentration in group I was 22.1 (17.8-28.2) ng/ml as compared to baseline value of 8.0±0.41ng/ml, with the mean increase of 15.6±1.3 ng/ml. On the other hand, in group II and group III, the mean serum 25OHD concentrations were 24.4 (20.6-29.6) ng/ml and 40.3 (29.4-58.4) ng/ml as compared to baseline value of 7.9±0.45 ng/ml and 7.6±0.47 ng/ml, with the mean increase of 17.3±1.1ng/ml, 34.3±3.2 ng/ml, respectively. We conclude that vitamin D3 supplementation with buccal spray and oral drops is equally effective in terms of raising vitamin D concentrations in short-term treatment of vitamin D deficiency.
, Claire Semple, Rhian Augustus, Melanie Wenn, Shelley Easter, Rebecca Broadbent, Dinesh Giri,
Journal of Clinical Research in Pediatric Endocrinology, Volume 13, pp 439-445; https://doi.org/10.4274/jcrpe.galenos.2021.2021.0010

Gülcan Seymen-Karabulut, Ayla Günlemez, Ayşe Sevim Gökalp, , Fatma Kaya Narter, , Şebnem Kader, , Deniz Hanta, , et al.
Journal of Clinical Research in Pediatric Endocrinology, Volume 13, pp 384-390; https://doi.org/10.4274/jcrpe.galenos.2020.2021.0169

, Deniz Özalp Kızılay, Fatma Taneli, Çınar Özen, Pelin Ertan, Ipek Özunan, Raziye Yıldız, Betül Ersoy
Journal of Clinical Research in Pediatric Endocrinology, Volume 13, pp 400-407; https://doi.org/10.4274/jcrpe.galenos.2021.2021.0020

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