Publications by authors named "E Karakilic-Ozturan"
Introduction: Melanocortin receptor 2 (MC2R) in the adrenal cortex controls the hypothalamic-pituitary-adrenal axis. The melanocortin system, influenced by leptin, regulates GnRH neurons, crucial for puberty onset and fertility. This study evaluates early puberty in primary adrenal insufficiency (PAI) patients due to MC2R gene alterations.
View Article and Find Full Text PDFA Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report.
J Clin Res Pediatr Endocrinol
October 2024
Article Synopsis
- Turner syndrome (TS) is the most common sex chromosome abnormality in females, leading to symptoms like short stature and increased risk of certain cancers, including mycosis fungoides (MF).
- A case study describes an 11-year-old girl with TS who developed itchy skin lesions diagnosed as CD4+ MF after receiving growth hormone therapy.
- This case highlights the rare occurrence of MF in pediatric TS patients, suggesting a potential link between TS and MF, and the need for careful skin evaluations in those with TS.
Article Synopsis
- Gonadoblastoma is a rare tumor made up of sex cord and primitive germ cells, mainly found in individuals with 46,XY gonadal dysgenesis, but can also occur in those with a 46,XX karyotype.
- A case study describes a 14-year-old girl with an uncommon virilizing ovarian tumor, leading to the removal of both ovaries and tubes, which was confirmed as bilateral gonadoblastoma with additional dysgerminoma on one side.
- It's important to consider malignant gonadal tumors in patients with 46,XX karyotype and virilization, and a gonadal biopsy may be necessary even if tests seem normal.
Evaluation of Growth Characteristics and Final Heights of Cases Diagnosed with Noonan Syndrome on GH Treatment.
J Clin Res Pediatr Endocrinol
October 2024
Introduction: Proportional short stature is one of the most important features of Noonan Syndrome, and adult height often remains below the 3rd percentile. Although the pathophysiology of short stature in NS patients is not fully understood, it has been shown that GH treatment is beneficial in NS, and it significantly improves the height in respect to the results of short and long-term GH treatment.
Methods: In this study, the efficacy of GH therapy was evaluated in children and adolescents with Noonan syndrome who attained final height.
Novel variants ensued genomic imprinting in familial central precocious puberty.
J Endocrinol Invest
August 2024
Introduction: Central precocious puberty (CPP) is characterized by the early onset of puberty and is associated with the critical processes involved in the pubertal switch. The puberty-related gene pool in the human genome is considerably large though few have been described in CPP. Within those genes, the genomic imprinting features of the MKRN3 and DLK1 genes add additional complexity to the understanding of the pathologic pathways.
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