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Muammer Büyükinan

muammer büyükinan

DOI: /jcrpe

The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study

Zeynep Şıklar1, Mikayir Genens2, Şükran Poyrazoğlu2, Firdevs Baş2, Feyza Darendeliler2, Rüveyde Bundak2, Zehra Aycan3, Şenay Savaş Erdeve3, Semra Çetinkaya3, Ayla Güven4, Saygın Abalı5, Zeynep Atay5, Serap Turan5, Cengiz Kara6, Gülay Can Yılmaz6, Nesibe Akyürek7, Ayhan Abacı8, Gamze Çelmeli9, Erkan Sarı10, Semih Bolu11, Hüseyin Anıl Korkmaz12, Enver Şimşek13, Gönül Çatlı14, Muammer Büyükinan7, Atilla Çayır15, Olcay Evliyaoğlu16, Pınar İşgüven17, Tolga Özgen18, Nihal Hatipoğlu19, Atilla Halil Elhan20, Merih Berberoğlu1
1Ankara University Faculty Of Medicine, Department Of Pediatric Endocrinology, Ankara, Turkey
2İstanbul University Istanbul Faculty Of Medicine, Department Of Pediatric Endocrinology, İstanbul, Turkey
3Dr. Sami Ulus Child Health And Disease Training And Research Hospital, Clinic Of Pediatric Endocrinology, Ankara, Turkey
4Göztepe Training And Research Hospital, Clinic Of Pediatric Endocrinology, İstanbul, Turkey
5Marmara University Faculty Of Medicine, Department Of Pediatric Endocrinology, İstanbul, Turkey
6Ondokuz Mayıs University Faculty Of Medicine, Department Of Pediatric Endocrinology, Samsun, Turkey
7Konya Training And Research Hospital, Clinic Of Pediatric Endocrinology, Konya, Turkey
8Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
9Akdeniz University Faculty Of Medicine, Department Of Pediatric Endocrinology, Antalya, Turkey
10Gülhane Military Medical Academy, Department Of Pediatric Endocrinology, Ankara, Turkey
11Düzce University Faculty Of Medicine, Department Of Pediatric Endocrinology, Düzce, Turkey
12Dr. Behçet Uz Children Disease And Surgery Training And Research Hospital, Clinic Of Pediatric Endocrinology, İzmir, Turkey
13Osmangazi University Faculty Of Medicine, Department Of Pediatric Endocrinology, Eskişehir, Turkey
14Tepecik Training And Research Hospital, Clinic Of Pediatric Endocrinology, İzmir, Turkey
15Erzurum Regional Training And Research Hospital, Clinic Of Pediatric Endocrinology, Erzurum, Turkey
16İstanbul University Cerrahpaşa Faculty Of Medicine, Department Of Pediatric Endocrinology, İstanbul, Turkey
17Sakarya University Faculty Of Medicine, Department Of Pediatric Endocrinology, Sakarya, Turkey
18Bezmialem University Faculty Of Medicine, Department Of Pediatric Endocrinology, İstanbul, Turkey
19Erciyes University Faculty Of Medicine, Department Of Pediatric Endocrinology, Kayseri, Turkey
20Ankara University Faculty Of Medicine, Department Of Biostatistics, Ankara, Turkey

Objective: Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS patients in Turkey and their growth response to GH treatment.
Methods: Children and adolescents with a diagnosis of NS were included inthe study. Laboratory assessment including standard GH stimulation test results were evaluated. Height increment of patients with or without GH treatment were analyzed after three years of therapy.
Results: A total of NS patients from different centers were entered in the web-based system. Short stature and typical face appearance were the most frequently encountered diagnostic features of our patients. Of the 84 patients who were followed long-term, 47 hadreceived recombinant human GH (rhGH). In this group of 47 patients, height standard deviation score (HSDS) increased from ± to ± after three years of therapy, indicating significant differences from the patients who did not receive GH treatment. PTPN11 gene was analyzed in 61 patients, and 64% of these patients were found to have a mutation. HSDS at admission was similar in patients with or without PTPN11 gene mutation.
Conclusion: A diagnosis of NS should be kept in mind in all patients with short stature showing systemic clinical findings. GH therapy is effective for improvement of short stature especially in the first two years of treatment. Further studies are needed for optimisation of GH therapy and evaluation of final height data in NS patients.

Keywords: Noonan syndrome,growth hormone treatment,growth

Zeynep Şıklar, Mikayir Genens, Şükran Poyrazoğlu, Firdevs Baş, Feyza Darendeliler, Rüveyde Bundak, Zehra Aycan, Şenay Savaş Erdeve, Semra Çetinkaya, Ayla Güven, Saygın Abalı, Zeynep Atay, Serap Turan, Cengiz Kara, Gülay Can Yılmaz, Nesibe Akyürek, Ayhan Abacı, Gamze Çelmeli, Erkan Sarı, Semih Bolu, Hüseyin Anıl Korkmaz, Enver Şimşek, Gönül Çatlı, Muammer Büyükinan, Atilla Çayır, Olcay Evliyaoğlu, Pınar İşgüven, Tolga Özgen, Nihal Hatipoğlu, Atilla Halil Elhan, Merih Berberoğlu. The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study. J Clin Res Pediatr Endocrinol. ; 8(3): 
Manuscript Language: English

Subklinik Hipotroidili Çocuklarda Yeni Antropometrik İndeksler Olan Body Shape İndex Ve Body Roundness İndex’in Değerlendirilmesi

İbrahim Solak, Zafer Bağcı, Muammer Büyükinan, Nesibe Akyürek

Anahtar Kelimeler: Subklinik hipotroidi, Çocuk hasta, Body Roundness İndex, Body Shape İndex ,

Amaç:

Bu çalışmada subklinik hipotiroidili (SH) çocuklarda yeni antropometrik indeksler olan Vücut Şekil İndeksi (ABSI=A Body Shape Index), Vücut Yuvarlaklık İndeksi (BRI=Body Roundness Index) ile, İnsülin Direnci için Homeostatik Model Değerlendirmesi (HOMA-IR=Homeostatic Model Assessment for Insulin Resistance) ve dislipidemi arasındaki ilişki araştırılmıştır.

Gereç ve Yöntem:

Bu çalışma için NEÜ Tıp Fakültesi Etik Kurulundan izin alınmıştır. Bu çalışma SBÜ Konya EAH Aile Hekimliği Polikliniği ve Çocuk Hastalıkları ve Endokrinoloji Polikliniklerine başvuran yaş arası çocuklarda yapılmıştır. Subklinik hipotroidi grubuna, Tiroid Stimulan Hormon (TSH)= mIU/mL arasındaki değerlere sahip hastalar alındı. Çalışmaya Diyabetes Mellitus, kardiyovasküler hastalık, kanser, gastrointestinal, pulmoner, renal, nörolojik hastalık hikayesi olanlar, steroid, immünsüpresif tedavi alanlar, düzenli egzersiz yapanlar ile hipotroidi tedavisi alan hastalar alınmamıştır.

Bulgular:

Çalışmaya 36(%30,8)’sı subklinik hipotroidi hastası, 81(%69,2)’i kontrol grubu olmak üzere toplam katılımcı alınmıştır.
Çalışmadaki SH grubunda, insülin (p=0,), BRI (p=0,), HOMA-IR (p=0,) ve VKİ (p<0,) istatistiki olarak anlamlı düşük iken, HDL kolesterol ise (p=0,) istatistiki olarak yüksekti. Çalışma gruplarının glukoz (p=0,), total kolesterol (p=0,), trigliserit (p=0,), LDL kolesterol (p=0,) ve ABSI (p=0,) değerleri arasında istatistiki olarak anlamlı fark yoktu.
Çalışmadaki SH hastalarda, BRI ile insülin (r=0,, p=0,), HDL kolesterol (r=-0,, p=0,) ve HOMA-IR (r=0,, p=0,) arasında anlamlı ilişki varken, TSH (r=0,, p=0,), glukoz (r=0,, p=0,), total kolesterol (r=-0,51, p=0,), trigliserit (r=0,, p=0,), LDL kolesterol (r=-0,, p=0,) arasında anlamlı ilişki yoktur.

Sonuç:

Bu çalışmada sonuç olarak, SH grubunda VKİ, BRI, insülin ve HOMA-IR anlamlı düşük iken, HDL kolesterol anlamlı yüksektir. SH grubunda BRI ile insülin ve HOMA arasında pozitif yönde anlamlı ilişki varken, HDL kolesterol arasında negatif yönde anlamlı ilişki vardır.

Kaynaklar:

1-Zaid, M., Ameer, F., Munir, R., Rashid, R., Farooq, N., Hasnain, S., & Zaidi, N. (). Anthropometric and metabolic indices in assessment of type and severity of dyslipidemia. Journal of physiological anthropology, 36(1),
2-Krakauer, N. Y., & Krakauer, J. C. (). A new body shape index predicts mortality hazard independently of body mass index. PloS one, 7(7), e
3-Thomas, D. M., Bredlau, C., Bosy‐Westphal, A., Mueller, M., Shen, W., Gallagher, D., & Heymsfield, S. B. (). Relationships between body roundness with body fat and visceral adipose tissue emerging from a new geometrical model. Obesity, 21(11),

Nationwide Turkish cohort study of hypophosphatemic rickets 

Şıklar, Zeynep; Turan, Serap; Bereket, Abdullah; Baş, Firdevs; Güran, Tülay; Akberzade, Azad; Abacı, Ayhan; Demir, Korcan; Böber, Ece; Özbek, Mehmet Nuri; Kara, Cengiz; Poyrazǒglu, Şükran; Aydın, Murat; Kardelen, Aslı Derya; Tarım, Ömer Faruk; Eren, Erdal; Hatipoǧlu, Nihal; Büyükinan, Muammer; Akyürek, Nesibe; Çetinkaya, Semra Çaǧlar; Bayramoǧlu, Elvan; Eklioǧlu, Beray Selver; Uçaktürk, Ahmet; Abali, Saygin; Gökşen, Damla; Kör, Yilmaz; Ünal, Edip; Esen, İhsan; Yıldırım, Ruken; Akın, Önur; Çayır, Atilla; Dilek, Emine; Kırel, Birgül; Anık, Ahmet; Çatlι, Gönül; Berberoǧlu, Merih(Galenos Yayincilik, )

Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect

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