Clinical Variability in a Noonan Syndrome Family with a Homozygous < em > PTPN11 < /em > Gene Variant in Two Individuals
CONCLUSION: A variant that had been described before in the literature was detected in the PTPN11 gene and this variant was homozygous in two patients. To the best of our knowledge, these are the first homozygous PTPN11 case reports in the literature, coming from two related consanguineous families.PMID:37847107 | DOI:10.4274/jcrpe.galenos.2023.2023-5-16 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 17, 2023 Category: Endocrinology Authors: Ruken Y ıldırım Edip Unal Şervan Özalkak Ak çahan Akalın Ay ça Aykut Nevzat Y ılmaz Source Type: research

Relationship of Glucagon-like Peptide 1 and Peptide YY with Catch-up Growth in Children Born Small for Gestational Age
CONCLUSION: Lower GLP-1 concentrations may be associated with abnormal glucose metabolism in prepubertal children born SGA with catch-up growth. Impaired intestinal L cell function may be involved in the development of metabolic complications in SGA children.PMID:37847108 | DOI:10.4274/jcrpe.galenos.2023.2023-5-21 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 17, 2023 Category: Endocrinology Authors: Li Wang Zhe Su Yu-Chuan Li Bing-Yan Cao Chang Su Chun-Xiu Gong Source Type: research

In response to: "Letter to: "Endocrinological Approach to Adolescents with Gender Dysphoria: Experience of a Pediatric Endocrinology Department in a Tertiary Center in Turkey""
J Clin Res Pediatr Endocrinol. 2023 Sep 28. doi: 10.4274/jcrpe.galenos.2023.2023-9-20. Online ahead of print.NO ABSTRACTPMID:37752752 | DOI:10.4274/jcrpe.galenos.2023.2023-9-20 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 27, 2023 Category: Endocrinology Authors: Esin Karak ılıç Özturan Ay şe Pınar Öztürk Firdevs Ba ş Ay şe Burcu Erdoğdu Seven Kaptan Asl ı Derya Kardelen Al Şükran Poyrazoğlu Melek Y ıldız Ne şe Direk Şahika Yüksel Feyza Darendeliler Source Type: research