Browsing by Author "Cetinkaya, Semra"

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Central Precocious Puberty in Boys; Diagnosis, Treatment and Follow-Up: a Nation-Wide Study
(Karger, 2023) Gunes, Sevinc Odabasi; Sakar, Merve; Sahin, Nursel Muratoglu; Karaguzel, Gulay; Cimbek, Emine Ayca; Darendeliler, Feyza; Cetinkaya, Semra
Central Precocious Puberty in Boys; Diagnosis, Treatment and Follow-Up: A Nation-Wide Study
(Springer, 2025) Odabasi Gunes, Sevinc; Sakar, Merve; Muratoglu Sahin, Nursel; Karaguzel, Gulay; Cimbek, Emine Ayca; Darendeliler, Feyza; Cetinkaya, Semra
Purpose To evaluate demographic characteristics, clinical, laboratory, imaging features, and treatment responses of boys who were diagnosed and treated for central precocious puberty (CPP). Methods The data were collected from pediatric endocrinology clinics in T & uuml;rkiye. Patients were classified into two groups based on magnetic resonance imaging (MRI) findings, idiopathic CPP (iCPP) and organic CPP (oCPP). The oCPP group was further cathegorized into three subgroups: oCPP-confirmed, oCPP-unrelated, and oCPP-uncertain lesions. Results Among 232 patients, 62.9% were diagnosed with iCPP. All patients aged <3 years had oCPP-confirmed lesions. Basal luteinizing hormone (LH) and total testosterone (T) levels were higher in oCPP group than in iCPP group (p = 0.004 and p = 0.02, respectively). Basal LH, basal follicle-stimulating hormone (FSH), T, and peak LH/FSH were lower in the iCPP-obese group (p < 0.05). T differed significantly among the oCPP-confirmed, oCPP-unrelated, and oCPP-uncertain subgroups (p = 0.032). Among patients that reached final height (FH), the difference between target height (TH) standard deviation score (SDS) and FH SDS was higher in oCPP group than in iCPP group (p < 0.05). A positive correlation was found between predicted adult height at the treatment initiation and FH (r = 0.463 p = 0.020). Factors affecting FH were height SDS at the beginning of treatment, paternal height SDS, and TH SDS. Conclusions The prevelance of oCPP was found lower compared with previous literature data. Currently, there is no reliable marker to predict oCPP that would allow clinicians to safely omit MRI in iCPP cases. However, boys under 3 years of age should be carefully evaluated for potential organic causes of CPP.
Tshr Is the Main Causative Locus in Autosomal Recessively Inherited Thyroid Dysgenesis
(Walter de Gruyter Gmbh, 2012) Cangul, Hakan; Aycan, Zehra; Saglam, Halil; Forman, Julia R.; Cetinkaya, Semra; Tarim, Omer; Maher, Eamonn R.
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and results in mental retardation if untreated. Eighty-five percent of CH cases are due to disruptions in thyroid organogenesis and are mostly sporadic, but about 2% of thyroid dysgenesis is familial, indicating the involvement of genetic factors in the aetiology of the disease. In this study, we aimed to investigate the Mendelian (single-gene) causes of non-syndromic and non-goitrous congenital hypothyroidism (CHNG) in consanguineous or multicase families. Here we report the results of the second part (n=105) of our large cohort (n=244), representing the largest such cohort in the literature, and interpret the overall results of the whole cohort. Additionally, 50 sporadic cases with thyroid dysgenesis and 400 unaffected control subjects were included in the study. In familial cases, first, we performed potential linkage analysis of four known genes causing CHNG (TSHR, PAX8, TSHB, and NKX2-5) using microsatellite markers and then examined the presence of mutations in these genes by direct sequencing. In addition, in silico analyses of the predicted structural effects of TSHR mutations were performed and related to the mutation specific disease phenotype. We detected eight new TSHR mutations and a PAX8 mutation but no mutations in TSHB and NKX2-5. None of the biallelic TSHR mutations detected in familial cases were present in the cohort of 50 sporadic cases. Genotype/phenotype relationships were established between TSHR mutations and resulting clinical presentations. Here we conclude that TSHR mutations are the main detectable cause of autosomal recessively inherited thyroid dysgenesis. We also outline a new genetic testing strategy for the investigation of suspected autosomal recessive non-goitrous CH.