ENDOCRINE RESEARCH

Purpose/Aim of the study: Acquired partial lipodystrophy (APL) is a rare disease characterized by selective loss of adipose tissue. In this study, we aimed to present a subset of patients with APL, who developed severe metabolic abnormalities, from our national lipodystrophy registry. Materials and Methods: Severe metabolic abnormalities were defined as: poorly controlled diabetes (HbA1c above 7% despite treatment with insulin more than 1 unit/kg/day combined with oral antidiabetics), severe hypertriglyceridemia (triglycerides above 500 mg/dL despite treatment with lipid-lowering drugs), episodes of acute pancreatitis, or severe hepatic involvement (biopsy-proven non-alcoholic steatohepatitis (NASH)). Results: Among 140 patients with all forms of lipodystrophy (28 with APL), we identified 6 APL patients with severe metabolic abnormalities. The geometric mean for age was 37 years (range: 27-50 years; 4 females and 2 males). Five patients had poorly controlled diabetes despite treatment with high-dose insulin combined with oral antidiabetics. Severe hypertriglyceridemia developed in five patients, of those three experienced episodes of acute pancreatitis. Although all six patients had hepatic steatosis at various levels on imaging studies, NASH was proven in two patients on liver biopsy. Our data suggested that APL patients with severe metabolic abnormalities had a more advanced fat loss and longer disease duration. Conclusions: We suggest that these patients represent a potential subgroup of APL who may benefit from metreleptin or investigational therapies as standard treatment strategies fail to achieve a good metabolic control

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4

\ua9 2024 Wiley Periodicals LLC.Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44). Myopathy with elevated serum creatine kinase levels (346–3325 IU/L) affected all of them (38/38). 39% had scoliosis (10/26) and 57% had atlantoaxial instability (8/14). Cardiac arrhythmias were detected in 57% (20/35) and 46% had ventricular tachycardia (16/35). Congenital pyloric stenosis was diagnosed in 39% (18/46), 9 had esophageal dysmotility and 19 had intestinal dysmotility. Four patients suffered from intestinal perforations. Seven patients died at mean age of 17 years (range: 2 months to 39 years). The cause of death in four patients was cardiac arrhythmia and sudden death, while others died of prematurity, gastrointestinal perforation, and infected foot ulcers leading to sepsis. Our study highlights high prevalence of myopathy, metabolic abnormalities, cardiac, and gastrointestinal problems in patients with CGL4. CGL4 patients are at high risk of early death mainly caused by cardiac arrhythmias

Parameters of Patients with Diabetes Mellitus (TEMD Obesity Study)

Background: Obesity is the main obstacle for metabolic control in patients with type 2 diabetes. Turkey has the highest prevalence of obesity and type 2 diabetes in Europe. The effect of obesity on the metabolic control, and the macro-and microvascular complications of patients are not apparent. Objectives: This nationwide survey aimed to investigate the prevalence of overweight and obesity among patients with type 2 diabetes and to search for the impact of obesity on the metabolic control of these patients. We also investigated the independent associates of obesity in patients with type 2 diabetes. Methods: We consecutively enrolled patients who were under follow-up for at least 1 year in 69 tertiary healthcare units in 37 cities. The demographic, anthropometric, and clinical data including medications were recorded. Patients were excluded if they were pregnant, younger than 18 years, had decompensated liver disease, psychiatric disorders interfering with cognition or compliance, had bariatric surgery, or were undergoing renal replacement therapy. Results: Only 10% of patients with type 2 diabetes (n = 4,648) had normal body mass indexes (BMI), while the others were affected by overweight (31%) or obesity (59%). Women had a significantly higher prevalence of obesity (53.4 vs. 40%) and severe obesity (16.6 vs. 3.3%). Significant associations were present between high BMI levels and lower education levels, intake of insulin, antihypertensives and statins, poor metabolic control, or the presence of microvascular complications. Age, gender, level of education, smoking, and physical inactivity were the independent associates of obesity in patients with type 2 diabetes. Conclusion: The TEMD Obesity Study shows that obesity is a major determinant of the poor metabolic control in patients with type 2 diabetes. These results underline the importance of prevention and management of obesity to improve health care in patients with type 2 diabetes. Also, the results point out the independent sociodemographic and clinical associates of obesity, which should be the prior targets to overcome, in the national fight with obesity. (c) 2019 The Author(s) Published by S. Karger AG, BaselC1 [Sonmez, Alper; Haymana, Cem; Demirci, Ibrahim] Univ Hlth Sci, Gulhane Sch Med, Dept Endocrinol & Metab, TR-06018 Ankara, Turkey.[Yumuk, Volkan] Istanbul Univ, Cerrahpasa Med Fac, Dept Endocrinol & Metab, Istanbul, Turkey.[Barcin, Cem] Univ Hlth Sci, Gulhane Sch Med, Dept Cardiol, Ankara, Turkey.[Kiyici, Sinem] Univ Hlth Sci, Bursa Yuksek Ihtisas Training & Res Hosp, Dept Endocrinol & Metab, Bursa, Turkey.[Guldiken, Sibel] Trakya Univ, Med Fac, Dept Endocrinol & Metab, Edirne, Turkey.[Oruk, Gonca] Izmir Katip Celebi Univ, Ataturk Educ & Res Hosp, Dept Endocrinol & Metab, Izmir, Turkey.[Saydam, Basak Ozgen] Dokuz Eylul Univ, Med Fac, Dept Endocrinol & Metab, Izmir, Turkey.[Baldane, Suleyman] Selcuk Univ, Med Fac, Dept Endocrinol & Metab, Konya, Turkey.[Kutluturk, Faruk] Gaziosmanpasa Univ, Med Fac, Dept Endocrinol & Metab, Tokat, Turkey.[Kucukler, Ferit Kerim] Hitit Univ, Med Fac, Dept Endocrinol & Metab, Corum, Turkey.[Deyneli, Oguzhan] Marmara Univ, Med Fac, Dept Endocrinol & Metab, Istanbul, Turkey.[Cetinarslan, Berrin] Kocaeli Univ, Med Fac, Dept Endocrinol & Metab, Kocaeli, Turkey.[Sabuncu, Tevfik] Harran Univ, Med Fac, Dept Endocrinol & Metab, Urfa, Turkey.[Bayram, Fahri] Erciyes Univ, Med Fac, Dept Endocrinol & Metab, Kayseri, Turkey.[Satman, Ilhan] Istanbul Univ, Med Fac, Dept Endocrinol & Metab, Istanbul, Turkey.[Ayturk, Semra] Trakya Univ, Sch Med, Dept Endocrinol & Metab, Edirne, Turkey.[Yilmaz, Murat] Corlu REYAP Private Hosp, Dept Endocrinol & Metab, Corlu, Turkey.[Asik, Mehmet] Canakkale 18 March Univ, Sch Med, Dept Endocrinol & Metab, Canakkale, Turkey.[Dinccag, Nevin; Cakmak, Ramazan; Turker, Fulya; Idiz, Cemile; Hacisahinogullari, Hulya; Bagdemir, Elif; Yildiz, Busra; Haliloglu, Ozlem] Istanbul Univ, Sch Med, Dept Endocrinol & Metab, Cerrahpasa, Turkey.[Sancak, Seda] Univ Hlth Sci, Sch Med, Fatih Sultan Mehmet Training & Res Hosp, Dept Endocrinol & Metab, Istanbul, Turkey.[Ozsari, Levent; Cagiltay, Eylem] Univ Hlth Sci, Sch Med, Sultanabdulhamit Training & Res Hosp, Dept Endocrinol & Metab, Istanbul, Turkey.[Imre, Eren] Marmara Univ, Sch Med, Dept Endocrinol & Metab, Istanbul, Turkey.[Sait Gonen; Boysan, S. Nur] Istanbul Sci Univ, Sch Med, Dept Endocrinol & Metab, Istanbul, Turkey.[Altuntas, Yuksel; Ozturk, Feyza Yener] Univ Hlth Sci, Sch Med, Sisli Hamidiye Etfal Training & Res Hosp, Dept Endocrinol & Metab, Istanbul, Turkey.[Mert, Meral; Piskinpasa, Hamide] Univ Hlth Sci, Istanbul Bakirkoy Dr Sadi Konuk Training & Res Ho, Sch Med, Dept Endocrinol & Metab, Istanbul, Turkey.[Aydin, Hasan] Yeditepe Univ, Sch Med, Dept Endocrinol & Metab, Istanbul, Turkey.[Ersoy, Canan; Oz Gul, Ozen] Uludag Univ, Sch Med, Dept Endocrinol & Metab, Bursa, Turkey.[Selek, Alev] Kocaeli Univ, Sch Med, Dept Endocrinol & Metab, Kocaeli, Turkey.[Dogru, Teoman; Kirik, Ali] Balikesir Univ, Sch Med, Dept Internal Med, Balikesir, Turkey.[Kebapci, Nur; Efe, Belgin] Eskisehir Osmangazi Univ, Sch Med, Dept Endocrinol & Metab, Odunpazari Eskisehir, Turkey.[Kaya, Ahmet; Cordan, Ilker] Necmettin Erbakan Univ, Sch Med, Dept Endocrinol & Metab, Konya, Turkey.[Kirac, Cem Onur] Selcuk Univ, Sch Med, Dept Endocrinol & Metab, Konya, Turkey.[Capa, Zehra] Univ Hlth Sci, Gulhane Sch Med, Ankara, Turkey.[Capa, Zehra] Gulhane Training & Res Hosp, Dept Endocrinol & Metab, Ankara, Turkey.[Cesur, Mustafa] Private Guven Hosp, Dept Endocrinol & Metab, Ankara, Turkey.[Yetkin, Ilhan] Gazi Univ, Sch Med, Dept Endocrinol & Metab, Ankara, Turkey.[Corapcioglu, Demet; Canlar, Sule] Ankara Univ, Sch Med, Dept Endocrinol & Metab, Ankara, Turkey.[Yildiz, Okan Bulent; Sendur, Suleyman Nahit] Hacettepe Univ, Sch Med, Dept Endocrinol & Metab, Ankara, Turkey.[Cakir, Bekir; Ozdemir, Didem] Yildirim Beyazit Univ, Sch Med, Dept Endocrinol & Metab, Ankara, Turkey.[Corakci, Ahmet] Ufuk Univ, Sch Med, Dept Endocrinol & Metab, Ankara, Turkey.[Kutlu, Mustafa] Private Bayindir Hosp, Dept Endocrinol & Metab, Ankara, Turkey.[Bascil Tutuncu, Neslihan; Bozkus, Yusuf] Baskent Univ, Sch Med, Dept Endocrinol & Metab, Ankara, Turkey.[Cakal, Erman] Univ Hlth Sci, Sch Med, Diskapi Yildirim Beyazit Training & Res Hosp, Dept Endocrinol & Metab, Ankara, Turkey.[Demirbas, Berrin] TOBB Univ, Sch Med, Dept Endocrinol & Metab, Ankara, Turkey.[Ertek, Sibel] Private Mem Hosp, Dept Endocrinol & Metab, Ankara, Turkey.[Altay, Mustafa; Dagdeviren, Murat] Univ Hlth Sci, Sch Med, Kecioren Training & Res Hosp, Dept Endocrinol & Metab, Ankara, Turkey.[Abedi, Amir Hassein] Erciyes Univ, Sch Med, Dept Endocrinol & Metab, Kayseri, Turkey.[Cetinkalp, Sevki; Ozisik, Hatice] Ege Univ, Sch Med, Dept Endocrinol & Metab, Izmir, Turkey.[Yener, Serkan] Dokuz Eylul Univ, Sch Med, Dept Endocrinol & Metab, Izmir, Turkey.[Guney, Engin; Unubol, Mustafa] Adnan Menderes Univ, Sch Med, Dept Endocrinol & Metab, Aydin, Turkey.[Yaylali, Guzin Fidan; Topsakal, Senay] Pamukkale Univ, Sch Med, Dept Endocrinol & Metab, Denizli, Turkey.[Hekimsoy, Zeliha] Celal Bayar Univ, Sch Med, Dept Endocrinol & Metab, Manisa, Turkey.[Akbaba, Gulhan] Mugla Univ, Sch Med, Dept Endocrinol & Metab, Mugla, Turkey.[Aslan, Ibrahim] Univ Hlth Sci, Antalya Training & Res Hosp, Sch Med, Dept Endocrinol & Metab, Antalya, Turkey.[Balci, Mustafa Kemal; Dalkiran, Sefika] Akdeniz Univ, Sch Med, Dept Endocrinol & Metab, Antalya, Turkey.[Akbay, Esen] Mersin Univ, Sch Med, Dept Endocrinol & Metab, Mersin, Turkey.[Gul, Kamile] Kahramanmaras Sutcu Imam Univ, Sch Med, Dept Endocrinol & Metab, Kahramanmaras, Turkey.[Agbaht, Kemal] Private Defne Hosp, Dept Endocrinol & Metab, Antalya, Turkey.[Yilmaz, Muge Ozsan] Mustafa Kemal Univ, Sch Med, Dept Endocrinol & Metab, Antakya, Turkey.[Bozkirli, Emre] Baskent Univ, Adana Training Hosp, Dept Endocrinol & Metab, Ankara, Turkey.[Tetiker, B. Tamer; Cetinkaya Altuntas, Seher] Cukurova Univ, Sch Med, Dept Endocrinol & Metab, Adana, Turkey.[Atmaca, Aysegul; Durmus, Elif Tutku] 19 Mayis Univ, Sch Med, Dept Endocrinol & Metab, Samsun, Turkey.[Mete, Turkan] Univ Hlth Sci, Sch Med, Samsun Training & Res Hosp, Dept Endocrinol & Metab, Samsun, Turkey.[Dikbas, Oguz] Giresun Univ, Sch Med, Dept Endocrinol & Metab, Giresun, Turkey.[Akin, Safak] Recep Tayyip Erdogan Univ, Sch Med, Dept Endocrinol & Metab, Rize, Turkey.[Nuhoglu, Irfan; Ersoz, Halil Onder] Karadeniz Tech Univ, Sch Med, Dept Endocrinol & Metab, Trabzon, Turkey.[Bayraktaroglu, Taner] Bulent Ecevit Univ, Sch Med, Dept Endocrinol & Metab, Zonguldak, Turkey.[Sisman, Pinar] Kars Harakani State Hosp, Dept Endocrinol & Metab, Kars, Turkey.[Sahin, Ibrahim; Cetin, Sedat] Inonu Univ, Sch Med, Dept Endocrinol & Metab, Malatya, Turkey.[Capoglu, Ilyas; Akbas, Emin Murat] Erzincan Univ, Sch Med, Dept Endocrinol & Metab, Erzincan, Turkey.[Ucler, Rifki] Yuzuncu Yil Univ, Sch Med, Dept Endocrinol & Metab, Van, Turkey.[Eren, Mehmet Ali] Harran Univ, Sch Med, Dept Endocrinol & Metab, Sanliurfa, Turkey.[Tuzcu, Alpaslan Kemal; Pekkolay, Zafer] Dicle Univ, Sch Med, Dept Endocrinol & Metab, Diyarbakir, Turkey.[Ozkaya, Mesut] Univ Hlth Sci, Sch Med, Gaziantep Ersin Arslan Res & Training Hosp, Gaziantep, Turkey.[Araz, Mustafa] Gaziantep Univ, Sch Med, Dept Endocrinol & Metab, Gaziantep, Turkey.[Salman, Serpil] Liv Hosp Ulus, Dept Endocrinol & Metab, Istanbul, Turkey.[Dizdar, Oguzhan Sitki] Kayseri Educ & Res Hosp, Dept Internal Med, Kayseri, Turkey.[Gurkan, Eren] Mustafa Kemal Univ, Dept Endocrinol & Metab, Antakya, Turkey.[Kargili Carlioglu, Ayse] Erzurum Reg Educ & Res Hosp, Dept Endocrinol & Metab, Erzurum, Turkey