Microcephaly in Infants: A Retrospective Cohort Study from T ürkiye
CONCLUSION: According to our results it would be appropriate to use head circumference ≤ 2 SDS for the definition of MC not to miss the cases in the follow-ups. Some MC cases can be prevented by decreasing inequalities. Further studies are needed evaluating socioeconomic factors on MC.PMID:38275148 | DOI:10.4274/jcrpe.galenos.2024.2023-5-3 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 26, 2024 Category: Endocrinology Authors: Gonca Keskindemirci Öykü Özbörü Aşkan Burak Selver Alev Bak ır Kayı G ülbin Gökçay Source Type: research

Evaluating Postoperative Outcomes and Investigating the Usefulness of EU-TIRADS Scoring in Managing Pediatric Thyroid Nodules Bethesda 3 and 4
CONCLUSION: The investigation revealed that EU-TIRADS scoring showed a substantial proportion of benign cases were classified as EU-TIRADS 5, suggesting that EU-TIRADS may lead to unnecessary biopsies in benign cases. Malignant cases were more likely to have a higher EU-TIRADS score, indicating a positive correlation with malignancy risk, particularly in Bethesda 4 cases. However, the EU-TIRADS system's predictive value for malignancy in Bethesda 3 cases was less definitive.PMID:38238968 | DOI:10.4274/jcrpe.galenos.2024.2023-8-12 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 19, 2024 Category: Endocrinology Authors: Aylin K ılınç Uğurlu Abdurrahman Bitkay Fatih G ürbüz Esra Karaku ş G ülşah Bayram Ilıkan Çağrı Damar Seda Şahin Merve Meryem K ıran Nedim G ülaldı M üjdem Nur Azılı Emrah Şenel İnci Ergürhan İlhan Mehmet Boyraz Source Type: research

Associations of Adipocyte-Derived Versican and Macrophage-Derived Biglycan with Body Adipose Tissue and Hepatosteatosis in Obese Children
CONCLUSION: Obese children have higher levels of versican, hsCRP, and IL-6, and more fatty liver than their healthy peers. Body fat percentage and BMI SDS were the best predictors for hepatosteatosis in these children.PMID:38238969 | DOI:10.4274/jcrpe.galenos.2024.2023-9-18 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 19, 2024 Category: Endocrinology Authors: Reyhan Deveci Sevim Mustafa G ök Özge Çevik Ömer Erdoğan Sebla G üneş Tolga Ünüvar Ahmet An ık Source Type: research

Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report
We present a case of an 11-year-old Korean girl who was initially suspected of having Noonan-like syndrome but was later diagnosed with Floating-Harbor syndrome. The patient exhibited short stature, developmental language delay, dysmorphic facial features, and early puberty. Targeted exome sequencing revealed a heterozygous mutation, c.7303C>T (p.Arg2435Ter), in the SRCAP gene, confirming a diagnosis of Floating-Harbor syndrome. She responded well to human recombinant growth hormone and gonadotropin-releasing hormone (GnRH) agonist, effectively suppressing bone maturation and improving her height SDS from -4.6 to -2.4.P...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 17, 2024 Category: Endocrinology Authors: Jooyoung Jeon Eu-Seon Noh Il Tae Hwang Source Type: research

Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants
J Clin Res Pediatr Endocrinol. 2024 Jan 12. doi: 10.4274/jcrpe.galenos.2023.2023-7-1. Online ahead of print.ABSTRACTSchwartz-Jampel Syndrome (SJS) type-1 (OMIM; #255800), a rare cause of skeletal dysplasia, is characterized by myotonic myopathy, chondrodystrophy, short stature, facial and eye abnormalities. SJS Type-1 develops due to variations in the HSPG2 gene which produces the "perlecan" molecule, one of the main proteoglycans of the basement membrane. A 6-year-old girl presented with short stature, a mask face, shrunken lips, narrow palpebral opening due to blepharospasm, stiffness of facial muscles, micrognathia, ove...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 12, 2024 Category: Endocrinology Authors: Fatma G üliz Atmaca Özlem Akgün Doğan B üşra Kutlubay Heves K ırmızıbekmez Source Type: research

Extensive Literature Review of 46, XX Newborns with Congenital Adrenal Hyperplasia (CAH) and Severe Genital Masculinization: Should They be Assigned and Reared Male?
J Clin Res Pediatr Endocrinol. 2023 Dec 27. doi: 10.4274/jcrpe.galenos.2023.2023-10-17. Online ahead of print.ABSTRACT46, XX individuals born with severely masculinized genitals due to congenital adrenal hyperplasia (CAH) who have been assigned males at birth and reared male can successfully establish a male gender identity/role, find employment, marry, function sexually with a female partner, and develop positive mental health status. While there were a few individuals who reportedly did not fare well or who changed gender to female, the majority of those identifying as males appear to have an overall good quality of life...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 27, 2023 Category: Endocrinology Authors: Tom Mazur Jennifer O'Donnell Peter A Lee Source Type: research