7 research outputs found

    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

    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.WOS:0006880797000082-s2.0-85113322532PubMed: 3356575

    Targeted Panel Gene Sequencing for Identification of Genetic Etiology of 46,XY Disorders of Sex Development.

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    Introduction: Congenital adrenal hyperplasia (CAH) is an autosomalrecessively transmitted disease and 95% of CAH cases aredue to 21-hydroxylase deficiency (21-OHD). There are more than100 mutations that cause CAH due to 21-OHD and the clinical expressionof the disease is reported to correlate with mutated alleles.The aim: The aim of this study was to investigate responsiblemutations and then to evaluate genotype-phenotype relationshipin CAH patients with 21-OHD.Methods: Mutations were firstly investigated by sequenceanalysis by Sanger method; when needed Multiplex Ligation-dependentProbe Amplification (MLPA) technique was applied. Mutationswere grouped as of group 0, A, B or C and compared withthe expected clinical phenotype i.e. Group 0: Salt wasting (SW),Group A: SW, Group B: Simple virilizing (SV), Group C: Nonclassical(NC) and positive predictive value (ppv) was determined forthe different groups (1).Subjects: Genotype was investigated in 40 cases with 21-OHD(33 classical, 7 nonclassical).Results: Responsible mutations were determined in 37of the cases (n:15 SW, n:15 SV, n:7 NC). The rate of parentalconsanguinity was 43.2%. In 4 compound heterozygotes genotypeswere determined after the genotyping of parents. In 11 cases onlySanger method, in 26 cases Sanger and MLPA methods were used.Mutations were identified in 73 alleles from 37 cases (mutationonly in one allele in one case: Deletion/Not detected). The mostcommon mutation was IVS2-13A/C>G (28.3%), followed byp.I172N mutation (17.5%) and large gene deletions (14.7%). Inaddition, heterozygosity for p.Y59N mutation which has not beenpreviously reported in our region and a higher rate (10.8%) for thep.V281L mutation than that reported before was found

    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
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