110 research outputs found

    Severe Short Stature: an unusual finding in lipoid proteinosis

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    Lipoid proteinosis (LP) is a rare disorder and it can affect every organ in the body. The clinical manifestations of LP may vary considerably between affected individuals. Short stature is reported in patients with LP however the underlying etiology is not clear. Short stature may be due to endocrine dysfunction caused by deposition of hyaline−like material in endocrine glands. We investigated a 13 year old patient with LP (507 delT mutation) who had severe short stature. He had hoarseness since the age of one year, followed by characteristic skin lesions for LP and short stature. There was no pathology with respect to endocrinological investigations in our patient including growth hormone−IGF axis. Our results show that short stature in LP can not be explained by endocrinological abnormalities. Short stature may be an intrinsic component of the syndrome

    Evaluation of Permanent Growth Hormone Deficiency (GHD) in Young Adults with Childhood Onset GHD: A multicenter study

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    Background: Reconfirming the diagnosis of childhood onset growth hormone deficiency (GHD) in young adults is necessary to demonstrate the need for continuation of GH therapy

    Oral Bacteria of Children with Turner Syndrome

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    Aim:Turner syndrome (TS) is a genetic disorder caused by a numerical or structural aberration of the X chromosome, which is associated with a female phenotype. Concerning oral status, several studies have revealed that girls with TS have dental anomalies and periodontal problems. The aim of this study was to evaluate the effects of oral bacteria on caries prevalence and periodontal status in pediatric patients with TS.Materials and Methods:Twenty TS patients and 17 healthy girls were examined for cariological and periodontal status. The levels of mutans streptococci (MS), lactobacilli (LB), yeast and 10 different periodontal bacteria were determined by using culture and microarray techniques in children’s stimulated saliva samples.Results:There was no difference in salivary flow rate and buffering capacity, decayed-missing-filled teeth, MS, LB, or yeast levels between the groups. Plaque index and gingival index levels were significantly higher in the Turner group and dft was significantly higher in the control group (p<0.05). As a result, microarray analysis, Prevotella intermedia, Fusobacterium nucleatum, Eikenella corrodens, Aggregatibacter actinomycetemcomitans, Actinomyces viscosus were detected at high levels in the Turner group (p<0.05).Conclusion:Besides dental and craniofacial anomalies, clinicians should be alert to the early diagnosis and treatment of periodontal problems in patients with TS

    Clinical characteristics and growth hormone treatment in patients with prader-willi syndrome

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    Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey. Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated. Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged. Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start. Keywords: Prader-Willi syndrome, endocrine dysfunction, growth hormone treatment, body compositio

    Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study

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    IMPORTANCE Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development. OBJECTIVE This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development. DESIGN AND PARTICIPANTS This retrospective multicenter (n = 22) open cohort study collected longitudinal clinical and biochemical data of the first 4 years of life using the I-CAH registry and included 188 male patients (median age 13 years; interquartile range: 10-17) with 21-hydroxylase deficiency (n = 181) or 11-hydroxylase deficiency (n = 7). All patients underwent at least 1 testicular ultrasound. RESULTS TART was detected in 72 (38%) of the patients. Prevalence varied between centers. When adjusted for CAH phenotype, a delayed CAH diagnosis of >1 year, compared with a diagnosis within 1 month of life, was associated with a 2.6 times higher risk of TART diagnosis. TART onset was not predicted by biochemical disease control or bone age advancement in the first 4 years of life, but increased height standard deviation scores at the end of the 4-year study period were associated with a 27% higher risk of TART diagnosis. CONCLUSIONS AND RELEVANCE A delayed CAH diagnosis of >1 year vs CAH diagnosis within 1 month after birth was associated with a higher risk of TART development, which may be attributed to poor disease control in early life

    Çocuk Endokrinolojisi ve Diyabet

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    Neonatoloji

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    Pediatri

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    CİNSİYET GELİŞİM BOZUKLUKLARI

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