Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience

Aim:Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by a deficiency of homogentisate 1,2-dioxygenase. This enzyme converts homogentisic acid (HGA) into maleylacetoacetic acid in the tyrosine degradation pathway. The presence of HGA in urine, ochronosis (bluish-black pigmentation in connective tissues) and arthritis of the spine and the other large joints are the three major features of AKU. Nitisinone and a tyrosine-restricted diet are the treatment options. In this study, we evaluated the demographic and clinical characteristics and also the mutations of our AKU patients.Materials and Methods:This retrospective single centre study included 36 patients who were diagnosed as AKU between the years of 2002 and 2017 Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Metabolism and Nutrition.Results:Thirty six AKU patients were included (17 female, 19 male) in our study. The mean age of the patients was 9.3±13.4 years (3 months-54 years). The major complaints were darkening of the urine (100%), ochronosis (11.1%), arthralgia (16.7%) and arthritis (8.1%). Darkening of the urine was firstly recognized at the age of 8.89±16.9 months (1-84 months). Eighteen (86%) patients had homozygous and 3 (14%) patients had compound heterozygous mutations in the HGD gene.Conclusion:AKU was the first inherited metabolic disease defined. The three main features are; darkening of the urine at birth which is followed by ochronosis (blue-dark pigmentation) clinically visible in the ear and alae of the nose and finally a severe ochronotic arthropathy of the spine and large joints at around the age of 50 years. Here we report on the clinical and genetic features of our patients at various ages

A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome

Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa. Here in this report, we present a case with congenital ichthyosis with atopy presenting later. We wanted to discuss the importance of whole exome sequencing to diagnose the atypical presentations of common syndromes

Serum IGF-1 and IGFBP-3 Levels in Healthy Children Between 0 and 6 Years of Age

Objective: Along with growth hormone (GH) levels, measurements of serum insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) are used in the diagnosis of GH deficiency and in monitoring the efficacy and safety of long-term GH treatment. The purpose of the present study was to establish reference values for serum IGF-1 and IGFBP-3 in healthy Turkish children less than 6 years of age

Glikojen depo tanılı hastalarımızdaki klinik ve laboratuar bulguları ile biyopsi ve enzim tayini sonuçları

TEZ7843Tez (Yandal Uzmanlık) -- Çukurova Üniversitesi, Adana, 2010.Kaynakça (s. 29-31) var.vii, 32 s. : res. ; 29 cm.Aim: Glycogen storage disorders are a group of inherited metabolic conditions due to variety of deficiencies in the breakdown pathway of the glycogen. Depending on the type liver, heart, or skeletal muscle singly or in combination may be involved. This study was undertaken to determine the specific type of glycogen storage diseases by enzymatic analysis in a group of patients previously diagnosed with glycogen storage diseases based on clinical and histopathological findings. Materials and Methods: All patients previously diagnosed with glycogen storage diseases at the Pediatric Endocrinology and Metabolism Clinic of the Çukurova University, Faculty of Medicine between 1980 and 2008 were reviewed with respect to their clinical, laboratory, and histopathological findings. Enzymatic analyses for glycogen storage diseases were performed in 28 of the patients. Results: Out of 78 patients, preliminarily diagnosed with glycogen storage diseases were able to locate 39 with full data. These have the following clinical findings: hepatomegaly in 33 (85 %), splenomegaly in 19 (% 48), doll face in 20 (51 %), growth failure in 21 (53 %), intolerance to exercise in 7 (17 %), myopathy in 5 (13 %), and cardiomyopathy in 4 (10 %). Twenty-seven patients had histopathological evidence of glycogen storage diseases including 15 of cirrhosis or pre-cirrhosis. Enzymatic analyses revealed the type of glycogen storage diseases as type I in 3 (7,6 %), type III in 12 (30 %), and type IV in 7 (17,9 %) while in 4 cases (10,2 %) type of the glycogen storage diseases could not be determined. Conclusion: Overall clinical and laboratory findings of our patients were consistent with those in the literature. Remarkably we found an unexpectedly high rate of type III in our cohort.Amaç: Glikojen depo hastalığı, glikojen yıkımında görevli enzimlerden birinin eksikliği sonucunda ortaya çıkan, genellikle karaciğer, kalp ve iskelet kasının beraber veya ayrı ayrı tutulduğu kalıtsal bir depo hastalığı grubudur. Bu çalı?mada Çocuk Endokrinolojisi ve Metabolizma Hastalıkları Bilim Dalında klinik, laboratuar ve biyopsi ile glikojen depo hastalığı tanısı alan olguların enzim çalı?ması ile tanılarının doğrulanması ve tiplendirilme yapılabilmesi amaçlandı. Gereç ve Yöntemler: Bu çalı?mada, Çukurova Üniversitesi Tıp Fakültesi Çocuk Endokrinolojisi ve Metabolizma Hastalıkları Bilim Dalı'nda 1980-2008 yılları arasında glikojen depo hastalığı tanısı ile izlenen olguların klinik, laboratuar ve biyopsi sonuçları incelendi. Ayrıca 28 hastada enzim tayini yapılarak sonuçları diğer bulgularla kar?ıla?tırıldı. Bulgular: 1980 ile 2008 yılları arasında izlenen 78 olgudan 39'unun verilerine ula?ılabildi. Olguların 33'ünde (% 85) hepatomegali, 19'unda (% 48) splenomegali, 20'sinde (% 51)ta?bebek yüzü, 21'inde büyüme geriliği (% 53), 7'sinde egzersiz intoleransı (% 17), 5'inde miyopati (% 13), 4'ünde kardiyomiyopati (% 10) mevcuttu. 15 hastada (% 38) siroz veya presiroz saptandı. Olguların 27'sinde biyopsi ile glikojen depo hastalığı ile uyumlu bulgular saptanırken, 28 hastada enzim çalı?ması yapılabildi. Enzim analizi yapılan hastaların 3'ü tip I (% 7,6), 12'si tip III (% 30) ve 7'si tip IV (% 17,9) glikojen depo hastalığı ile uyumlu bulunurken, 4'ünde (% 10,2) tip tayini yapılamadı. Biyopsi sonucu glikojen depo hastalığı ile uyumlu gelen 16 hastanın enzim analizi ile tanıları desteklendi. Sonuç: Hastaların semptomlarının ve laboratuar bulgularının literatürle uyumlu olduğu gözlendi. Enzim tayini ile hastalarımızda beklediğimizin aksine en sık görülen glikojen depo hastalığının tip III olduğu saptandı

Hastalarımızda santral sinir sistemi lezyonlarına bağlı olarak saptanan endokrinopatiler

Giriş: Hipofiz veya hipotalamusa ait konjenital veya akkiz patolojileri olan hastalar kliniğe çoğunlukla nörolojik bulgulardan önce izole veya multipl hormon eksiklikleri nedeniyle gelmektedirler. Manyetik rezonans ile görüntülemenin güncel kullanıma girmesi ile bunların tanısı daha kolay hale gelmiştir. Materyal ve Metod: Bu çalışmada Çukurova Üniversitesi Tıp Fakültesi Pediatrik Endokrinoloji ve Metabolizma Bilim Dalında izlenen hastalardaki santral sinir sistemi patolojilerine bağlı endokrinopatiler incelendi. Bulgular: İzlenen 56 hastanın otuzikisinde (%57.5) santral sinir sisteminin konjenital, yirmidördünde (% 42.859 akkiz lezyonları saptandı. Konjenital nedenler içinde hipofizer hipoplazi (%32.15) akkiz olanlar arasında ise intrakraniyal tümörler (%25.00) birinci sıklıkta tespit edildi. Bu lezyonların en sık olarak yol açtığı endokrinopati izole büyüme hormonu (% 19.64) eksikliği idi. Lezyonların % 76.78'i manyetik rezonans görüntüleme, % 23.22'si bilgisayarlı beyin tomografisi ile saptandı. Sonuç: Hastalarımızda mevcut endokrin bozuklukların etiyolojisinde tespit edilen santral sinir sistemine ait lezyonların sıklığı literatür ile uyumlu iken genellikle tek tek olgular halinde bildirilen boş sellanın % 12.50 oranında bulunmasının dikkat çekici olduğu düşünüldü.Introduction: Patients with congenital or acquired defects of pituitary and hypothalamus admit to the clinics with complaints of either one or multiple hormone deficiencies before the neurological findings. After the usage of magnetic resonance imaging technique diagnosis of these pathologies are easier. Material and Method: In this study, we evaluate the endocrinopathies due to the defects of central nervous system in 56 patients in University of Çukurova Faculty of Medicine, Department of Paediatric Endocrinology and Metabolism. Results: Thirty-two patients (57.15%) have congenital and, twenty-four patients (42.85%) have acquired disorders of pituitary. Pituitary hypoplasia is the most common (32.15%) cause of congenital defects whileintracraniattumors (25%) take place in first row of acquired pathologies. The most common endocrinopathy due to these lesions is isolated growth-hormone deficiency (19.64%). With magnetic resonance imaging studies we found 76.78% and with computerized tomography studies we found 23.22% of hypothalamic pituitary region abnormalities Conclusion: The results of our study are parallel with references except the high incidence of emtpy-cell

Evaluation of patients with complaints of precocious puberty

Bu çalışmada, Ocak 1984 ve Şubat 1999 tarihleri arasında erken cinsel gelişim yakınması ile Çukurova Üniversitesi Tıp Fakültesi Pediatrik Endokrinoloji ve Metabolizma Bilim Dalı'na başvuran 110'u (%87) kız, 16'sı (%13) erkek, ortalama yaşları 49.2$\pm$ 32.3 ay olan, toplam 126 hastanın verileri retrospektif olarak değerlendirildi. Hastaların sistemik muayeneleri, Tanner sınıflanddırılmasına göre pubertal evrelendirmeleri yapıldıktan sonra takvim, boy ve kemik yaşları belirlendi ve boy yaşı standart sapma skorları hesaplandı. Tanı amacıyla endokrin testler, adrenal, pelvik ve serebral görüntüleme yöntemleri uygulandı. Etiyolojik incelemeleri tamamlanmadığı ve düzenli olarak izleme gelmedikleri için 51 hasta çalışmaya alınmadı. Geriye kalan 60 (%80) kız hastanın 22'sinde (%37) gonadotropine bağımlı altısına gonoadotropine bağımlı olmayan erken puberte, 24'üne (%44) prematür telarş, yedisine (%11) prematür adrenarş ve birine (%2) prematür menarş; 15 erkek hastanın beşine (%33) gonadotropine bağımlı, üçüne (%20) gonadotropine bağımlı olmayan ve yedisine (%47) kombine erken puberte tanıları konuldu. Organik lezyon gonadotropine bağımlı pubertesi olan kız hastalarda %18, erkek hastalarda %40 oranında saptandı. Literatür incelendiğinde ganodotropine bağımlı erken pubertenin kız hastalarda %80 oranında idiopatik olduğu, erkek hastalarda ise organik nedenlerin %80-90 oranında saptanabildiği görüldü. Hastalarımızda tespit edilen organik lezyon oranı literatürle benzemekle beraber, özellikle son yıllarda manyetik rezonans görüntüleme yönteminin daha güncel kullanımı ile oranın artacağı düşünüldü. Ayrıca çalışmamızda kız hastalarda prematür telarşı en sık erken puberte grubu olarak bulurken, erkek hastalarda prematür adrenarşın görülmeyişi ilginç bulundu.In this study, the data of one hundred and twenty-six patients (110 / 87% girls, 16/ 13% boys) who were admitted to the University of Çukurova Faculty of Medicine, Departments of Pediatric Endocrinology and Metabolism between January 1984 and February 1999 with complaints of precocious puberty were investigated retrospectively. The mean age of the patients was 49.2 ± 32.3 months. After physical examination and determination of pubertal stage using Tanner classification, calender, height and bone ages were established, and height standard deviation score was calculated. Endocrine tests, and adrenal, pelvic and cerebral imaging methods were used in diagnosis. Fifty-one patients were excluded from the study because of incomplete etiological investigation. From the remaining 60 (80%) female patients, 22 (37%) had gonadotropin-dependent and six (10%) gonadotropin-independent precocious puberty, 24 (44%) premature thelarche, seven (11%) premature adrenarche and one (2%) premature menarche. From the remaining 15 (20%) male patients, five (33%) had gonadotropin-dependent, three (20%) gonadotropin-independent and seven (47%) combined precocious puberty. The ratio of organic lesions was 18 percent in girls and 40 percent in boys with gonadotropin-dependent precocious puberty. In literature, gonadotropin-dependent precocious puberty was 80 percent idiopathic in girls in contrast with boys who had a central nervous system pathology with a ratio of 80-90 percent. Although the etiological distribution of our patients was similiar to results in the literature, we believe that with frequent usage of magnetic resonance imaging of the central nervous system, this ratio will increase. In this study, premature thelarche was the most frequent symptom of precocious puberty in girls. It is interesting that premature adrenarche case was not found in boys

Etiologic evaluation of central diabetes insipidus in fourty-one patient

Amaç: Santral diabetes insipidus tanısı ile takip edilen kırkbir hastanın etiyolojik yönden değerlendirilmesidir. Çalışmanın Yapıldığı Yer: Çalışma, Çukurova Üniversitesi Tıp Fakültesi, Pediatrik Endokrinoloji ve Metabolizma Bilimdalında yapıldı. Materyel ve Metod: Ekim 1982 ve Temmuz 1998 tarihleri arasında santral diabetes insipidus tanısı ile takip edilen onüçü (%32) kız, yirmisekizi (%68) erkek, ortalama yaşları 69.73 ± 44 ay (17-159 ay) olan toplam kırkbir hasta etiyolojiye yönelik olarak bilgisayarlı beyin tomografisi veya manyetik rezonans görüntüleme yöntemleri ile incelendi. Bulgular: Kırkbir hastanın yedisinde (%17.08) intrakraniyal kitle, dördünde (%9.77) kafa travması, üçünde (%7.30) santral sinir sistemi enfeksiyonları, üçünde (%7.30) santral sinir sisteminin konjenital anomalileri ve ikisinde (%4.88) infiltratif hastalıklar diabetes insipidus nedeni olarak tespit edildi. Yirmiiki (%53.66) hasta idiyopatik olarak kabul edildi. Hastaların otuzyedisinde (%90.23) arginin-vazopressin eksikliği izole iken Üç (%7.30) hastada arginin-vazopressine ek olarak büyüme hormonu eksikliği ve bir (%3.43) hastada da panhipopitüitarizm saptandı. Sonuç: Çalışmamızda diabetes insipidusa yol açan organik nedenler arasında literatürle benzer şekilde en sık olarak intrakraniyal kitleleri (%17.08) tespit ettik.Yıllar içerisinde diabetes insipidus etiyolojisinde saptanan organik lezyon oranında literatürle benzer şekilde %37.50'den %52.50'ye ulaşan bir artış bulundu.Purpose: Etiologic evaluation of central diabetes insipidus in fourty-one children. Materials and Methods: The etiology of central diabetes insipidus vas determined in fourty-one children consisted of thirteen (32%) girls and twenty-eight (68%) boys aged between seventeen to one hundred-fifty nine months (median 69.73 ± 44 months) with computed tomographic scannning and dynamic magnetic resonance imaging of the head. Result: Diabetes insipidus occured in seven (17.08%) children with intracranial tumors, four (9.77%) with cranial trauma, three (7.30%) with central nervous system infections, three (7.30%) with congenital intracranial defects and two (4.88%) with infiltrative diseases. Diabetes insipidus was idiopathic in twenty-two (53.66%) children. Arginine-vasopressin deficiency was isolated in thirty-seven (90.23%) children. Three (7.30%) patients had growth hormone deficiency and one (3.43%) patient had hypopituitarizm in addition to arginine-vasopressin deficiency. Conclusion: Like in the literature, we found intracranial tumors (17.08%) as the most frequent cause of diabetes insipidus. Also with the usage of developed imaging techniques the ratio of organic lesions was increased to 52.50% from 37.50% within the years

Blue-colored sweating: four infants with apocrine chromhidrosis

Apocrine chromhidrosis is a very rare, idiopathic disorder of the sweat glands characterized by the secretion of colored sweat. Because hormonal induction increases sweating, the symptoms of apocrine chromhidrosis usually begin after puberty. Although treatment may not be necessary in some cases, capsaicin cream and 20% aluminum chloride hexahydrate solution have been successfully used to treat patients requiring intervention. Here we report four cases with apocrine chromhidrosis. To the best of our knowledge, our patients are the youngest cases reported in the literature.Apocrine chromhidrosis is a very rare, idiopathic disorder of the sweat glands characterized by the secretion of colored sweat. Because hormonal induction increases sweating, the symptoms of apocrine chromhidrosis usually begin after puberty. Although treatment may not be necessary in some cases, capsaicin cream and 20% aluminum chloride hexahydrate solution have been successfully used to treat patients requiring intervention. Here we report four cases with apocrine chromhidrosis. To the best of our knowledge, our patients are the youngest cases reported in the literature

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications. Case Report: Here, we report a 6-year-old girl with tyrosinemia type I who discontinued NTBC treatment six months prior to admission, presenting with complaints of abdominal pain, vomiting, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis. Further laboratory and radiologic evaluation revealed that indeed this is a pancreatitis. Conclusion: We report this case as tyrosinemia type I and pancreatitis was reported only in one case in the literature, emphasizing confusing clinical signs of neurological crisis, and pancreatitis in tyrosinemia type I.Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications. Case Report: Here, we report a 6-year-old girl with tyrosinemia type I who discontinued NTBC treatment six months prior to admission, presenting with complaints of abdominal pain, vomiting, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis. Further laboratory and radiologic evaluation revealed that indeed this is a pancreatitis. Conclusion: We report this case as tyrosinemia type I and pancreatitis was reported only in one case in the literature, emphasizing confusing clinical signs of neurological crisis, and pancreatitis in tyrosinemia type I

Clinical, laboratory and radiological evaluation of the patients with mucopolysaccharidosis

AMAÇ: Bu çalışma, 1983-1997 yılları arasında Çukurova Üniversitesi Tıp Fakültesi Pediatrik Endokrinoloji ve Metabolizma Bilim Dalında izlenen 15'i erkek, 5'i kız, yaşları 12-204 aylar arasında (ortalama= 98.1 ± 56.4 ay) değişen 20 mukopoiisakkaridozlu hastanın klinik, laboratuvar, radyolojik yönden değerlendirilmesi amacıyla yapıldı. YÖNTEM: Hastaların tanısı mukopolisakkaridozun tipik klinik bulgularının bulunması sella spot grafisi, PA akciğer grafisi, yan forakolomber grafi ve el bilek grafisinde mukopolisakkaridozlara özgü radyolojik bulguların olması,idrarda heksuronik asit ölçülmesi ve heparan sülfat, dermatan -sülfat oranlarının kolon kromatografisi ile saptanması ile konuldu. SONUÇLAR: Hastaların -%90'ında mukopolisakkaridozlara özgü yüz görünümü, %75'inde tipik yürüyüş, %30'unda hepatosplenomegali, %30'unda hepatomegali, %55'inde inguinal herni, %50'sinde umblikal herni, %50'sinde makroglossi, %40'ında pençe el, %40'ında eklem kısıtlılığı saptandı. Hastaların %36'sında sella spot grafisinde, %63.2'sinde PA akciğer grafisinde, %47.4'ünde yan torakolomber grafide, %63.2'sinde el bilek grafisinde mukopolisakkaridozlara özgü bulgular gözlendi. Vakaların %90'ında heksuronik asit düzeyleri yüksek bulundu. YORUM: Klinik, radyolojik ve laboratuvar bulguları MPS ile uyumlu vakalara, yurdumuzda enzim ve moleküler tanı imkanlarının sağlanması; erken tanı, komplikasyonların önlenmesi, genetik danışma, prenatal tanı, kemik iliği transplantasyonu ve gen tedavisi açısından önem kazanmaktadır.PURPOSE: This study was undertaken to evaluate clinical, laboratory, and radiological findings of the twenty patients with mucopolysaccharidosis who have been followed in our clinic. The mean age of the patients was 98.1 ± 56.4 months (range: 12-204 months). Five'of the patients were girls and the remaining were boys. METHODS: Diagnosis was made certain by the laboratory, clinical and radiological findings typical for mucopolysaccharidosis. RESULTS: Clinical findings with percentages in parenthesis as follows: coarse facies (90%), typical gait (30%), hepatosplenomegaly (30%), inguinal hernia (55%), umbilical hernia (50%), macroglossia (50%), claw-hand deformity (40%), and stiff joints (40%). Characteristic radiological findings were present in the sella spot (36%), anterior-posterior chest (63.2%), lateral thoracolumbar (47%), and hand-wrist (63.2%) X-ray graphs. Serum Hexuronic ascit levels were increased in 90% of patients. CONCLUSION: Diagnosis of these cases were based on clinical, laboratory and radiological findings. Availability of enzymatic and molecular diagnosis in our country would enable earlier diagnosis with timely preventative measures against expected complications, prenatal diagnosis and genetic counseling and an option for newer treatment modalities such as bone marrow transplantation or gene theraphy at younger ages