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    Current Practice in Diagnosis and Treatment of Growth Hormone Deficiency in Childhood: A Survey from Turkey
    (Galenos Yayincilik, 2015) Poyrazoglu, Sukran; Akcay, Teoman; Arslanoglu, Ilknur; Atabek, Mehmet Ernie; Atay, Zeynep; Berberoglu, Merih; Bereket, Abdullah; Bideci, Aysun; Bircan, Iffet; Bober, Ece; Can, Sule; Cesur, Yasar; Darcan, Sukran; Demir, Korcan; Dundar, Bumin; Ersoy, Betul; Esen, Ihsan; Guven, Ayla; Kara, Cengiz; Keskin, Mehmet; Kurtoglu, Selim; Memioglu, Nihal; Ozbek, Mehmet Nuri; Ozgen, Tolga; Sari, Erkan; Siklar, Zeynep; Simsek, Enver; Turan, Serap; Yesilkaya, Ediz; Yuksel, Bilgin; Darendeliler, Feyza
    Objective: Approaches to diagnosis and treatment of growth hormone deficiency (GHD) in children vary among countries and even among centers in the same country. This survey, aiming to facilitate the process of preparing the new consensus on GHD by the Turkish Pediatric Endocrinology and Diabetes Society, was designed to evaluate the current practices in diagnosis and treatment of GHD in different centers in Turkey. Methods: A questionnaire covering relevant items for diagnosis and treatment of GHD was sent out to all pediatric endocrinology centers. Results: Twenty-four centers returned the questionnaire. The most frequently used GH stimulation test was L-dopa, followed by clonidine. Eighteen centers used a GH cut-off value of 10 ng/mL for the diagnosis of GHD; this value was 7 ng/mL in 4 centers and 5 ng/mL in 2 centers. The most frequently used assay was immunochemiluminescence for determination of GH, insulin-like growth factor-1 and insulin-like growth factor binding protein-3 concentrations. Sex steroid priming in both sexes was used by 19 centers. The most frequently used starting dose of recombinant human GH (rhGH) in prepubertal children was 0.025-0.030 mg/kg/day and 0.030-0.035 mg/kg/day in pubertal children. Growth velocity was used in the evaluation for growth response to rhGH therapy in all centers. Anthropometric measurements of patients every 3-6 months, fasting blood glucose, bone age and thyroid panel evaluation were used by all centers at follow-up. Main indications for cessation of therapy were decreased height velocity and advanced bone age. Fourteen centers used combined treatment (rhGH and gonadotropin-releasing analogues) to increase final height. Conclusion: Although conformity was found among centers in Turkey in current practice, it is very important to update guideline statements and to modify, if needed, the approach to GHD over time in accordance with new evidence-based clinical studies.
  • Küçük Resim Yok
    Öğe
    Current Practice in Diagnosis and Treatment of Growth Hormone Deficiency in Childhood: A Survey from Turkey
    (Galenos Yayincilik, 2015) Poyrazoglu, Sukran; Akcay, Teoman; Arslanoglu, Ilknur; Atabek, Mehmet Ernie; Atay, Zeynep; Berberoglu, Merih; Bereket, Abdullah; Bideci, Aysun; Bircan, Iffet; Bober, Ece; Can, Sule; Cesur, Yasar; Darcan, Sukran; Demir, Korcan; Dundar, Bumin; Ersoy, Betul; Esen, Ihsan; Guven, Ayla; Kara, Cengiz; Keskin, Mehmet; Kurtoglu, Selim; Memioglu, Nihal; Ozbek, Mehmet Nuri; Ozgen, Tolga; Sari, Erkan; Siklar, Zeynep; Simsek, Enver; Turan, Serap; Yesilkaya, Ediz; Yuksel, Bilgin; Darendeliler, Feyza
    Objective: Approaches to diagnosis and treatment of growth hormone deficiency (GHD) in children vary among countries and even among centers in the same country. This survey, aiming to facilitate the process of preparing the new consensus on GHD by the Turkish Pediatric Endocrinology and Diabetes Society, was designed to evaluate the current practices in diagnosis and treatment of GHD in different centers in Turkey. Methods: A questionnaire covering relevant items for diagnosis and treatment of GHD was sent out to all pediatric endocrinology centers. Results: Twenty-four centers returned the questionnaire. The most frequently used GH stimulation test was L-dopa, followed by clonidine. Eighteen centers used a GH cut-off value of 10 ng/mL for the diagnosis of GHD; this value was 7 ng/mL in 4 centers and 5 ng/mL in 2 centers. The most frequently used assay was immunochemiluminescence for determination of GH, insulin-like growth factor-1 and insulin-like growth factor binding protein-3 concentrations. Sex steroid priming in both sexes was used by 19 centers. The most frequently used starting dose of recombinant human GH (rhGH) in prepubertal children was 0.025-0.030 mg/kg/day and 0.030-0.035 mg/kg/day in pubertal children. Growth velocity was used in the evaluation for growth response to rhGH therapy in all centers. Anthropometric measurements of patients every 3-6 months, fasting blood glucose, bone age and thyroid panel evaluation were used by all centers at follow-up. Main indications for cessation of therapy were decreased height velocity and advanced bone age. Fourteen centers used combined treatment (rhGH and gonadotropin-releasing analogues) to increase final height. Conclusion: Although conformity was found among centers in Turkey in current practice, it is very important to update guideline statements and to modify, if needed, the approach to GHD over time in accordance with new evidence-based clinical studies.
  • Küçük Resim Yok
    Öğe
    Current Practice in Diagnosis and Treatment of Growth Hormone Deficiency in Childhood: A Survey from Turkey
    (Galenos Yayincilik, 2015) Poyrazoglu, Sukran; Akcay, Teoman; Arslanoglu, Ilknur; Atabek, Mehmet Ernie; Atay, Zeynep; Berberoglu, Merih; Bereket, Abdullah; Bideci, Aysun; Bircan, Iffet; Bober, Ece; Can, Sule; Cesur, Yasar; Darcan, Sukran; Demir, Korcan; Dundar, Bumin; Ersoy, Betul; Esen, Ihsan; Guven, Ayla; Kara, Cengiz; Keskin, Mehmet; Kurtoglu, Selim; Memioglu, Nihal; Ozbek, Mehmet Nuri; Ozgen, Tolga; Sari, Erkan; Siklar, Zeynep; Simsek, Enver; Turan, Serap; Yesilkaya, Ediz; Yuksel, Bilgin; Darendeliler, Feyza
    Objective: Approaches to diagnosis and treatment of growth hormone deficiency (GHD) in children vary among countries and even among centers in the same country. This survey, aiming to facilitate the process of preparing the new consensus on GHD by the Turkish Pediatric Endocrinology and Diabetes Society, was designed to evaluate the current practices in diagnosis and treatment of GHD in different centers in Turkey. Methods: A questionnaire covering relevant items for diagnosis and treatment of GHD was sent out to all pediatric endocrinology centers. Results: Twenty-four centers returned the questionnaire. The most frequently used GH stimulation test was L-dopa, followed by clonidine. Eighteen centers used a GH cut-off value of 10 ng/mL for the diagnosis of GHD; this value was 7 ng/mL in 4 centers and 5 ng/mL in 2 centers. The most frequently used assay was immunochemiluminescence for determination of GH, insulin-like growth factor-1 and insulin-like growth factor binding protein-3 concentrations. Sex steroid priming in both sexes was used by 19 centers. The most frequently used starting dose of recombinant human GH (rhGH) in prepubertal children was 0.025-0.030 mg/kg/day and 0.030-0.035 mg/kg/day in pubertal children. Growth velocity was used in the evaluation for growth response to rhGH therapy in all centers. Anthropometric measurements of patients every 3-6 months, fasting blood glucose, bone age and thyroid panel evaluation were used by all centers at follow-up. Main indications for cessation of therapy were decreased height velocity and advanced bone age. Fourteen centers used combined treatment (rhGH and gonadotropin-releasing analogues) to increase final height. Conclusion: Although conformity was found among centers in Turkey in current practice, it is very important to update guideline statements and to modify, if needed, the approach to GHD over time in accordance with new evidence-based clinical studies.
  • Küçük Resim Yok
    Öğe
    Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
    (Endocrine Soc, 2016) Guran, Tulay; Buonocore, Federica; Saka, Nurcin; Ozbek, Mehmet Nuri; Aycan, Zehra; Bereket, Abdullah; Bas, Firdevs; Darcan, Sukran; Bideci, Aysun; Guven, Ayla; Demir, Korcan; Akinci, Aysehan; Buyukinan, Muammer; Aydin, Banu Kucukemre; Turan, Serap; Agladioglu, Sebahat Yilmaz; Atay, Zeynep; Abali, Zehra Yavas; Tarim, Omer; Catli, Gonul; Yuksel, Bilgin; Akcay, Teoman; Yildiz, Metin; Ozen, Samim; Doger, Esra; Demirbilek, Huseyin; Ucar, Ahmet; Isik, Emregul; Ozhan, Bayram; Bolu, Semih; Ozgen, Ilker Tolga; Suntharalingham, Jenifer P.; Achermann, John C.
    Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded. Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics. Patients: Ninety-five children (48 females, aged 0-18 y, eight familial) with PAI of unknown etiology participated in the study. Results: A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c. IVS3ds + 1delG in MRAP. Several important clinical and molecular insights emerged. Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future.

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