JCRPE Journal of Clinical Research in Pediatric Endocrinology This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Early-onset Chronic Keratitis as the First Presenting Component of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1): A Case Report and Review of the Literature
J Clin Res Pediatr Endocrinol. 2023 Dec 12. doi: 10.4274/jcrpe.galenos.2023.2023-9-17. Online ahead of print.ABSTRACTAutoimmune polyendocrine syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autosomal recessive autoimmune disease. It is caused by mutations in the autoimmune regulator (AIRE) gene. APS-1 is diagnosed clinically by the presence of two of the three major components: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and primary adrenocortical insufficiency. A 3.3-year-old girl was presented with a carpopedal spas...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 12, 2023 Category: Endocrinology Authors: Enver Şimşek Tulay Simsek Oguz Cilingir Source Type: research

Atypical Presentation and Course of ACTH-independent Cushing's Syndrome in Two Families
We report three cases suffering from CNC with unique features in diagnosis and follow-up. All cases had obesity and a cushingoid appearance and exhibited laboratory characteristics of hypercortisolism. However biochemical and radiological examinations initially suggested Cushing's disease in one case . All of the cases were treated surgically; two of them underwent bilateral adrenalectomy at once, one of them had unilateral adrenalectomy at first but required contralateral adrenalectomy after nine months. Contrary to what is usually known regarding PPNAD, the adrenal glands of two cases (case 2 and 3) had a macronodular mo...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 12, 2023 Category: Endocrinology Authors: K übra Yüksek Acinikli Sezer Acar Ahu Paket çi Özgür Kırbıyık Mert Erba ş Özge Besci G özde Akın Kağızmanlı Deniz K ızmazoğlu Oktay Ulusoy Erdener Özer Kutsal Y örükoğlu Ayhan Abac ı Handan G üleryüz Ece B öber Korcan Demir Source Type: research

Bone Phenotype is Always Present; Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency
J Clin Res Pediatr Endocrinol. 2023 Dec 12. doi: 10.4274/jcrpe.galenos.2023.2023-12-10. Online ahead of print.ABSTRACT3'-Phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2) deficiency is a rare disorder due to biallelic pathogenic variants in the PAPSS2 gene. This disorder was first described in 1998 by Ahmad M, et al. and Faiyaz ul Haque M et al.. So far 79 patients with PAPSS2 deficiency were reported in the literature. The main reported features of these patients are related to bone abnormalities and clinical/biochemical androgen excess. Disproportionate short stature and symptoms associated with spondylar skeletal d...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 12, 2023 Category: Endocrinology Authors: Didem Helvacioglu Tulay Guran Source Type: research

Worsening of Congenital Hypothyroidism After Start of Carob-bean Gum Thickened Formula: Is There a Link? A Case Report
We describe an infant with CH whose thyroid hormone levels worsened after she started a carob-bean gum thickened formula. A baby girl was diagnosed with CH by newborn screening (at confirmatory blood evaluation TSH was 496.0 µIU/mL and FT4 0.13 ng/dl). Five weeks after beginning L-T4 treatment TSH normalized (TSH 2.72 µIU/mL , FT4 2.08 ng/dl); nevertheless, only another 5 weeks later we noticed a new worsening of thyroid hormone levels (TSH 31.1 µIU/mL , FT4 1.27 ng/dl), which worsened further (TSH 44.8 µIU/mL, FT4 1.16 ng/dl) even if L-T4 dosage was increased. Anamnesis disclosed that she had been given a carob-bean g...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 6, 2023 Category: Endocrinology Authors: Claudia Signorino Giovanna Municchi Marta Ferrari Stefano Stagi Source Type: research

Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency
J Clin Res Pediatr Endocrinol. 2023 Dec 6. doi: 10.4274/jcrpe.galenos.2023.2023-10-1. Online ahead of print.ABSTRACTMonocarboxylate transporter8 (MCT8) deficiency is a rare genetic disorder characterized by peripheral thyrotoxicosis and severe cognitive, motor disability due to cerebral hypothyroidism. 3,3',5-triiodothyroacetic acid(Triac) was shown to improve peripheral thyrotoxicosis but data on neurodevelopmental outcome are scarce. Herein a case of MCT8 deficiency and the experience with Triac focusing on change in neurodevelopmental and peripheral features are being presented. Five-month-old boy was referred for feedi...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 6, 2023 Category: Endocrinology Authors: Ya ğmur Ünsal Gamze Hayran Source Type: research

Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and < em > RFX6 < /em > in Children with Autoantibody-negative Type 1 Diabetes Mellitus
CONCLUSION: This study screened mutations in the 14 MODY-related genes and the regulatory factor X6 (RFX6) gene in Turkish children diagnosed with autoantibody-negative type 1 diabetes mellitus (T1DM). The frequencies of the MODY subtypes differed from previous reports. Although GCK-MODY was the most frequent mutation in Turkish children, similar to previous studies, the second most prevalent MODY subtype was HNF1B-MODY. This study also established three additional novel mutations in different MODY genes.PMID:38054414 | DOI:10.4274/jcrpe.galenos.2023.2023-5-10 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 6, 2023 Category: Endocrinology Authors: Enver Şimşek Oguz Cilingir Tulay Simsek Sinem Kocagil Ebru Erzurumluoglu Gokalp Meliha Demiral Cigdem Binay Source Type: research