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    Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment
    (Georg Thieme Verlag Kg, 2023) Besci, Ozge; Sevim, Reyhan Deveci; Acinikli, Kubra Yuksek; Demir, Korcan; Catli, Gonul; Ozhan, Bayram; Unuvar, Tolga
    Aim We aimed to describe the clinical characteristics of patients with congenital combined pituitary hormone deficiency (CPHD) and evaluate the first-year growth responses of individuals with CPHD and isolated growth hormone deficiency (IGHD) in order to establish the influence of other hormone deficiencies on growth response.Patients and Methods This retrospective study was conducted in four tertiary care centers in Turkey. The records of patients diagnosed with CPHD (n=39) and severe IGHD (n=50) were collected. Cases with acquired lesions or chronic diseases were not included in the study. Data are presented as median (interquartile range).Results Among 39 patients (13 females; 33%) with a diagnosis of CPHD, the majority of patients (64%) presented initially with combined deficits at baseline examination, whereas isolated deficiencies (36%) were less prevalent. Among all patients with GH deficiency, TSH, ACTH, FSH/LH, and ADH deficiencies were present in 94%, 74%, 44%, and 9% of patients, respectively. Patients with CPHD were diagnosed at a younger age (4.9 (8.4) vs. 11.6 (4.1), p<0.001, respectively) and had lower peak GH concentrations (0.4 (1.8) vs. 3.7 (2.9), p<0.001, respectively) than patients with IGHD. Patients with IGHD and CPHD had similar first-year growth responses (Delta height SD score of 0.55 (0.63) vs. 0.76 (0.71), respectively, p=0.45).Conclusions We established the nature and timing of numerous hormonal deficits emerging over time. We also identified that the existence of CPHD did not hinder growth response.
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    Comprehensive genetic testing shows one in five children with diabetes and non-autoimmune extra-pancreatic features have monogenic aetiology
    (Karger, 2018) Patel, Kashyap A.; Colclough, Kevin; Ozbek, Mehmet Nuri; Yildiz, Melek; Guran, Tulay; Kocyigit, Cemil; Acar, Sezer; Siklar, Zeynep; Atar, Muge; Johnson, Matt B.; Flanagan, Sarah E.; Ellard, Sian; Cizmecioglu, Filiz Mine; Berberoglu, Merih; Demir, Korcan; Catli, Gonul; Bas, Serpil; Akçay, Teoman; Demirbilek, Huseyin; Weedon, Michael N.; Hattersley, Andrew T.
    Young onset Diabetes with non-autoimmune extra pancreatic features