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INTRODUCTION: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported non-adherence rates in GH treatment have varied widely. Several factors may have an impact on adherence. Apart from these factors, the global impact of the Coronavirus disease-2019 (COVID-19) pandemic, including problems with hospital admission and routine follow-up of patients using GH treatment, may have additionally affected the adherence rate. The primary objective of this study was to investigate adherence to treatment in patients receiving GH. In addition, potential problems with GH treatment during the pandemic were investigated. METHODS: This was a multicenter survey study that was sent to pediatric endocrinologists during the pandemic period (June-December 2021). Patient data, diagnosis, history of pituitary surgery, current GH doses, duration of GH therapy, the person administering therapy (either parent/patient), duration of missed doses, reasons for missed doses, as well as problems associated with GH therapy, missed dose data and the causes in the recent year (after the onset of the pandemic) were questioned. Treatment adherence was categorized based on missed dose rates over the past month (0 to 5%, full adherence; 5.1 to 10% moderate adherence; >10% non-adherence). RESULTS: The study cohort consisted of 427 cases (56.2% male) from thirteen centers. Median age of diagnosis was 8.13 (0.13-16) years. Treatment indications were isolated GH deficiency (61.4%), multiple pituitary hormone deficiency (14%), Turner syndrome (7.5%), idiopathic GH deficiency (7.5%), small for gestational age (2.8%), and “others“ (6.8%). GH therapy was administered by parents in 70% and by patients in 30%. Mean daily dose was 32.3 μg/kg, the annual growth rate was 1.15 standard deviation score (minimum -2.74, maximum 9.3). Overall GH adherence rate was good in 70.3%, moderate in 14.7%, and poor in 15% of the patients. The reasons for non-adherence were mainly due to forgetfulness, being tired, inability to access medication, and/or pen problems. It was noteworthy that there was a negative effect on adherence during the COVID-19 pandemic reported by 22% of patients and the main reasons given were problems obtaining an appointment, taking the medication, and anxiety about going to hospital. There was no difference between genders in the adherence rate. Non-adherence to GH treatment decreased significantly when the patient: administered the treatment; was older; had longer duration of treatment; and during the pandemic. There was a non-significant decrease in annual growth rate as non-adherence rate increased. DISCUSSION AND CONCLUSION: During the COVID-19 pandemic, the poor adherence rate was 15%, and duration of GH therapy and older age were important factors. There was a negative effect on adherence during the pandemic period.

Aim: This study aimed to investigate the relationship between adenoid hypertrophy, the most common cause of obstructive sleep apnea (OSA) in children, with the systemic immune inflammation index (SII) and the pan-immune inflammation value (PIV), and to evaluate the clinical utility of SII and PIV in prognostic and predictive aspects. Materials and Methods: The retrospective data from 29 patients presenting to the otorhinolaryngology clinic with dyspnea and undergoing adenoidectomy for OSA between June, 2022 and June, 2023 were reviewed. Thirty age- and sex-matched healthy subjects were included as the control group. The preoperative and postoperative 6-month SII and PIV values of both groups were compared. Results: There was no significant difference between the groups in terms of age and gender (p>0.05). Platelet SII and PIV were statistically significantly higher in patients in the preoperative period compared to the control group (p0.05). Postoperative neutrophil, platelet, and monocyte counts, as well as the SII and PIV values of the patients, were significantly higher than of those in the control group (p

INTRODUCTION: 22q11.2 deletion syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder. Associated problems in 22q11.2 DS may include cardiac abnormalities, immune dysfunction, facial dysmorphism, with endocrine, genitourinary and gastrointestinal problems, and developmental delay. The aim of this study was to evaluate and present all endocrinological findings of patients with 22q11.2 DS from a single center. METHODS: All participants had confirmed 22q11.2 DS by fluorescence in situ hybridization with hypoparathyroidism. Data were retrieved by retrospective review of patient records. RESULTS: A total of 17 patients were reviewed. On physical examination, all patients had similar dysmorphic features. The median age at diagnosis was 45 days (1 day-13 years). Most cases (64.7%, 11/17) were diagnosed with hypoparathyroidism incidentally after routine tests. At the time of diagnosis, mean calcium was 7.04±0.80 mg/dL, phosphorus was 6.2±1.1 mg/dL, and median parathyroid hormone (PTH) was 11.5 (3.7-47.6) ng/L. Transient hypoparathyroidism was detected in five cases (29.4%). There was no significant difference between patients with permanent or transient hypoparathyroidism regarding gender, age at diagnosis, calcium, phosphorus, and PTH levels. However, vitamin D levels were significantly lower in the transient group (p=0.036). During follow-up, short stature, obesity, and type 2 diabetes mellitus were absent. Thyroid autoantibodies were detected in two patients with normal thyroid function tests. Despite there being no pathological short stature, final stature was shorter than the general population (mean height standard deviation score: -0.94±0.83). DISCUSSION AND CONCLUSION: Hypocalcemia may be detected during acute illness in some cases where hypocalcemia appears at later ages. There was no significant difference between permanent and transient hypoparathyroidism cases in terms of PTH level. Recognition of the more specific facial findings is important to trigger investigation of genetic variants, additional anomalies, and for follow-up.

Kenny-Caffey syndrome (KCS) is a rare autosomal recessive (AR)/dominant disease characterized by hypoparathyroidism, skeletal dysplasia, dwarfism, and dysmorphism. FAM111A or TBCE gene mutations are responsible for this syndrome. Osteocraniostenosis (OCS) is a lethal syndrome with similar features to KCS, and it can be a severe form of KCS type 2 which results from the FAM111A gene mutation. The FAM111A mutation is generally characterized by the autosomal dominant transition. We present a male case having compound heterozygous variants (c.976T>A and c.1714_1716del) in the FAM111A gene with an AR inheritance pattern. Hypocalcemia developed on the second day of life. The patient and his older sister had a dysmorphic face, skeletal dysplasia, and they were diagnosed with hypoparathyroidism. Both siblings died due to septicemia. He is the first reported patient with the FAM111A mutation in Turkey. The phenotype of the patient is compatible with OCS, and the detected variants may explain the disease genetically.

Persistent hypoglycemia in infants with congenital hyperinsulinism (CHI) can be challenging in approximately half of these cases, even after undergoing a near-total pancreatectomy. While maltodextrin has been recommended in the nutritional management of CHI cases younger than six months, information regarding its efficacy in managing hypoglycemia are not yet clear. Here, we present a male infant with CHI who experienced persistent hypoglycemia even after undergoing a near-total pancreatectomy and despite multiple medical treatments. The infant’s hypoglycemic episodes were successfully controlled by adding maltodextrin to his diet.

Objective:Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey.Methods:Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study.Results:Seventy-seven (45.6%) female and 92 male cases with a mean age of 8.18±5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3±2.1%, 184.9±128.9 mg/dL, 9.4±22.9 IU/L, 1.36±1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2%), HNF1A-MODY in 31 (18.3%), and variants in ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%).Conclusion:Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY is the second most frequent (32%). In contrast to these reports, in our study, the most common form was GCKMODY while less than 20% of cases were diagnosed with HNF1A-MODY.

Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these patients. Fibroblast growth factor receptor 3 (FGFR3) gene mutations are common causes of achondroplasia. The current study presents a case of 2-year-old male child patient presenting with phenotypic characteristics of ACH. The interesting finding of the case is the presence of psychomotor delay that is not very common in these patients. Clinical exome sequencing analyzing 4.813 disease causing genes revealed a de novo c.1138G > A mutation within the FGFR3 gene. In conclusion, the mutation confirms the clinical diagnosis of ACH, and it seems to be causing the psychomotor delay in this patient.

Objective:Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to present the phenotype and genotype of our patients with NDM and share our experience in a single tertiary center.Methods:A total of 16 NDM patients from 12 unrelated families are included in the study. The clinical presentation, age at diagnosis, perinatal and family history, consanguinity, gender, hemoglobin A1c, C-peptide, insulin, insulin autoantibodies, genetic mutations, and response to treatment are retrospectively evaluated.Results:The median age at diagnosis of diabetes was five months (4 days-18 months) although six patients with a confirmed genetic diagnosis were diagnosed >6 months. Three patients had KCNJ11 mutations, six had ABCC8 mutations, three had EIF2AK3 mutations, and one had a de novo INS mutation. All the permanent NDM patients with KCNJ11 and ABCC8 mutations were started on sulfonylurea treatment resulting in a significant increase in C-peptide level, better glycemic control, and discontinuation of insulin.Conclusion:Although NDM is defined as diabetes diagnosed during the first six months of life, and a diagnosis of type 1 diabetes is more common between the ages of 6 and 24 months, in rare cases NDM may present as late as 12 or even 24 months of age. Molecular diagnosis in NDM is important for planning treatment and predicting prognosis. Therefore, genetic testing is essential in these patients.

Aim:The aim of this study was to investigate the effect of the Triple P-Positive Parenting Training Program, which was applied to the parents of children and adolescents with a type 1 diabetes (T1D) diagnosis aged 3-12 years, on parental attitude, parental mental health, and child behaviour.Materials and Methods:This research was conducted in a quasi-experimental manner. The sample of the research consisted of 32 parents who had children with a T1D diagnosis aged 3-12 years and who agreed to participate in the study. Data were collected using the Family Background Questionnaire, General Health Questionnaire, Strengths and Difficulties Questionnaire, Parental Attitude Research Instrument, Conflict Behaviour Questionnaire and Parent Satisfaction Questionnaire. The Group Triple P Programme was implemented with all groups for 8 weeks. Data were collected immediately after the programme. Data were evaluated by using multidirectional variance analysis, t- test and chi-square test.Results:It was shown that the Group Triple P applied to the parents of those children with a T1D diagnosis positively affects the mental health of the parents, their parental attitudes and the problematic behaviour of their children and also that the parents had less conflict with their children and the children had less conflict with their parents.Conclusion:It is suggested that further studies are carried out in different centres and cities with the Group Triple P Programme to widen the use of the Group Triple P Programme and also to plan future research where the Group Triple P programme and other programmes currently used in country can be compared.

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 treatment options.Methods:Here we present nationwide initial and follow-up data on HR.Results:From 24 centers, 166 patients were included in the study. Genetic analysis (n=75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7±2.4 years. During the first 3-years of treatment (n=91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were -2.38, -2.77, -2.72, -2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p>0.05). On follow-up 36% of the patients showed complete or significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1st and 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis (NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year PTH was higher. However, higher treatment doses of phosphate and calcitriol were found in the NC group.Conclusion:HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.

Objective:Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with non-syndromic early onset severe obesity.Methods:Children with severe (body mass index-standard deviation score >3) and early onset (

Objective:We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study.Methods:We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia and idiopathic hyperprolactinemia. Complaints of the patients, their mode of treatment (medication and/or surgery) and outcomes were evaluated in detail.Results:The mean age of the patients with hyperprolactinemia was 14.5 years, and 88.4% were females. In terms of etiology, microadenomas were observed in 32.6%, macroadenomas in 27%, idiopathic hyperprolactinemia in 22.7% and drug-induced hyperprolactinemia in 6.4%. Other causes of hyperprolactinemia were defined in 11.3%. Common complaints in females (n=206) were sorted into menstrual irregularities, headaches, galactorrhea, primary or secondary amenorrhea and weight gain, whereas headache, gynecomastia, short stature and blurred vision were common in males (n=27). Median prolactin levels were 93.15 ng/mL, 241.8 ng/mL, 74.5 ng/mL, 93.2 ng/mL, and 69 ng/mL for microadenomas, macroadenomas, idiopathic hyperprolactinemia, drug-induced hyperprolactinemia, and other causes of hyperprolactinemia, respectively. Of 172 patients with hyperprolactinemia, 77.3% were treated with cabergoline and 13.4% with bromocriptine. 20.1% of the patients with pituitary adenomas underwent pituitary surgery.Conclusion:We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised.

Objective:No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment results.Methods:A standard questionnaire was uploaded to an online national database system to collect data on children with hypercalcemia (serum calcium level >10.5 mg/dL) due to vitamin D intoxication [serum 25-hydroxyvitamin D (25(OH)D) level >150 ng/mL] who were treated in pediatric endocrinology clinics.Results:Seventy-four children [median (range) age 1.06 (0.65-1.60) years, 45 males (61%) from 11 centers] were included. High-dose vitamin D intake was evident in 77% of the cases. At diagnosis, serum calcium, phosphorus, alkaline phosphatase, 25(OH)D and parathyroid hormone concentrations were 15±3.2 mg/dL, 5.2±1.2 mg/dL, 268±132 IU/L, 322 (236-454) ng/mL, and 5.5 (3-10.5) pg/mL, respectively. Calcium levels showed moderate correlation with 25(OH)D levels (rs=0.402, p

Aim: Plate fixation and titanium elastic nailing are conventional surgical treatment modalities for both-bone forearm fractures in children. The purpose of this study is to assess the functional and radiographic results of these techniques and compare with literature. Patient and Methods: We evaluated data of 36 children retrospectively. Twelve of the patients (group 1; 1 girls, 11 boys, age range 9-15 years) were treated by open reduction plate fixation and 24 of the children (group 2; 3 girls, 21 boys, age range 9-14 years) were treated by closed reduction intramedullary nailing. Mean total time from fracture until the surgery was 4.3 and 6.1 days in group 1 and 2, respectively. We compared the groups according to union duration, the number and the severity of the complications and clinical outcomes according to Price criteria. Results: Mean follow-up duration was 22.0 months in group 1 and 19.7 months in group 2. Mean age was 13.0±1.2 years and 11.7±1.6 years in group 1 and 2, respectively. According to Price criteria, we obtained no poor outcomes in both groups. The rate of excellent outcome was 75% and 87.5 % in group 1 and 2, respectively. Union was obtained in 7.6 weeks and 6.7 weeks in group 1 and 2, respectively; this difference was statistically significant (p

PURPOSE:We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy.METHODS:A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included.RESULTS:Despite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles. No residual adipose tissue was noted particularly in the head and neck, palms and soles in CGL2 caused by BSCL2 mutations. CGL4 caused by mutations in the PTRF gene was characterized with well-preserved retro-orbital and bone marrow fat in the absence of any visible residual adipose tissue in other areas. No residual adipose tissue was observed in AGL. Despite loss of subcutaneous fat, periarticular adipose tissue was preserved in the lower limbs of patients with FPLD. Retro-orbital adipose tissue was surprisingly preserved in APL, although they lacked head and neck fat.CONCLUSION:Lipodystrophies are a heterogeneous group of disorders characterized by generalized or partial loss of adipose tissue, which can be congenital or acquired. Our results suggest that residual adipose tissue characteristics can help distinguish different subtypes of lipodystrophy.

Introduction: Osteogenesis imperfecta (OI) is a hereditary disease that impairs the quality of life by frequent bone fractures. The objective of our study is to retrospectively evaluate patients diagnosed with OI and to come up with helpful data that will assist developing new diagnosis and treatment protocols. Materials and Methods: Twenty-eight cases with OI who were followed-up in our clinic were retrospectively evaluated. Clinical classification of OI was done. Age, sex, and oxologic data were evaluated. Height, weight and body mass index (BMI) data was given as standard deviation score (SDS). Family history of fracture and consanguineous marriage was sought. Blue sclera and presence of deformity was evaluated on physical examination. Results: Out of the 28 cases in our study, 14 (50%) were boys, 14 (50%) were girls, and mean age was 7.48±5.09 years. Mean age of diagnosis was 25.59±39.59 months. Ten cases (47.6%) had OI, and 7 cases (25%) had consanguineous marriage in their family history. The cases were separated into autosomal dominant 4 clinical types according to Sillence classification as follows; 13 cases (46.4%) type 1, 10 cases (35.7%) type 3, and 5 cases (17.9%) type 4. The mean average basal dual energy X-ray absorptiometry Z score, mean height SDS, mean weight SDS and BMI SDS significantly increased for the cases after treatment (p

Introduction: To determine the rate, etiology and morbidity association of disorders of thyroid function tests (TFTs) in premature babies. Materials and Methods: A total of 139 premature babies who were admitted to Uludag University Faculty of Medicine Hospital Neonatal Intensive Care Unit between January 2009 and January 2012 were included in this study. Prenatal, natal and postnatal characteristics along with TFTs results were recorded. TFTs were performed for all patients in the first and third weeks of life. Thyroid stimulation hormone (TSH) values of >10 IU/L was considered elevated. Free T3 and T4 levels were evaluated according to laboratory cut-off values. Weight, height and head circumference values of all individuals with and without the diagnosis of hypothyroidism on the 6th, 12th, and 18th months of their polyclinic follow-ups.Results: Abnormal TFTs were detected in 41 (24%) patients. Twenty two patients (53%) had transient TSH elevation, 9 (22%) had primary hypothyroidism, 9 (22%) had non-thyroidal disease and 1 (2.4%) had transient hypothyroxinemia. Among morbidities, respiratory distress syndrome rate was found to be significantly higher in patients with thyroid function disorders (p=0.007). The rate of thyroid function disorders in patients with mothers with hypothyroidism was significantly more frequent compared to patients without maternal hypothyroidism (p=0.049). The mean head circumference in 18 month was significantly lower in patients with abnormal TFTs (p=0.047). Conclusions: Thyroid function disorders are common morbidities in premature babies and are important for neuromotor development. Maternal thyroid function disorder can lead to impairment of TFTs in infants. Thyroid function tests should be performed in all premature babies and hypotyhroidism should be treated. Avoidance of iodine exposure in premature infants can reduce the rate of abnormal TFTs and transient hypothyroidism.

Dilated cardiomyopathy is an important cause of heart failure in children. Medical therapy rarely results in complete improvement of the disease, treatment of which usually requires transplantation. Herein, we present a patient with cardiomyopathy and rickets. Case report: A 3-month-old boy was referred to Pediatric Endocrinology Clinic due to low calcium level. On his physical examination, enlarged wrists and large anterior fontanel were remarkable. Results of laboratory analyses revealed a calcium level of 6.8 mg/dL, phosphorus level of 4.9 mg/dL, alkaline phosphatase level of 1637 U/L, parathyroid hormone level of 191.2 pg/ mL, and 25-hydroxyvitamin D level of 5.7 ng/mL. Hand-wrist radiograph revealed signs consistent with rickets. Echocardiogram revealed dilated left ventricle, hypokinetic myocardium, an ejection fraction of 42%, and fractional shortening by 20%. Oral calcium lactate was started and then vitamin D treatment was added. At the 3rd month of the therapy, laboratory tests completely returned to normal and signs of rickets disappeared. Echocardiogram findings returned to normal. Since cardiac functions began to improve after the therapy, dilated cardiomyopathy associated with vitamin D deficiency was considered. Vitamin D deficiency should be considered while evaluating dilated cardiomyopathy in the regions that are endemic for nutritional rickets and it should be kept in mind that the therapy may provide dramatic improvement

Unye bentonite was found to consist predominantly of a dioctahedral smectite along with quartz, tridymite, cristobalite, and minor fractions of feldspar and anatase. A considerable amount of Al was retained as a constituent in acid-resistant impurities following the decomposition of the montmorillonite via acid treatment at an acid/clay ratio of 0.4. These impurities were mesoporous with a maximum surface area of 303.9±0.4 m² g-1. A sharp decrease in the d001 lattice spacing of the montmorillonite to 15.33 Å reflected the reduction of the crystallinity in the activated products. In addition, the increase in the ease with which newly formed hydroxyl groups were lost paralleled the severity of the acid treatment.

Introduction: Osteopetrosis is a rare disorder of osteoclast function resulting in failure of resorption and increased bone density. Rickets is a paradoxical complication of osteopetrosis. In this article, we report a 3-month old infant, examined because of right inguinal swelling and hepatosplenomegaly who was diagnosed with osteopetrosis and rickets, a rare association. Case: A 3-month old infant was referred to Pediatric Infectious Disease department to rule out congenital CMV infection because of positivity of CMV IgM and CMV Ig G detected during examination for right inguinal swelling and hepatosplenomegaly. Antenatal history of the baby was normal. On physical examination, he did not have head control and eye contact, he had bilateral horizontal nystagmus, a 5-cm hepatomegaly, a 6-cm splenomegaly, and right inguinal hernia. The laboratory evaluation revealed serum Ca of 9.3 mg/dl (8.4-10.2), P of 2.2 mg/dl (2.3-4.7), and ALP of 1139 U/L (40-150). Hyperdense appearence was seen in chest x-ray, and whole radiological skeletal survey revealed diffusely increased bone density, ‘space alien’ sign in craniography, sandwich sign in vertebrae, and enlargement of costocondral junction on chest radiogram. With laboratory and radiologic findings, the patient was diagnosed as osteopetrosis associated with rickets.Conclusion: Association of osteopetrosis and ricets is rare and paradoxical. Early diagnosis and treatment improves patients’ life expectancy. Therefore detection and traetment of rickets before bone marrow transplantation increases success of treatment.(Jo­ur­nal of Cur­rent Pe­di­at­rics 2012; 10: 40-3)

Introduction: Osteogenesis imperfecta (OI) is a genetic disorder resulting in increased bone fragility due to defective collagen synthesis. Biphosfonates have been used in children with OI. Herein, we aimed to present clinical and laboratory features of the patients with OI and to evaluate response to biphosphonate therapy. Materials and Methods: The data of 21 patients with OI were evaluated retrospectively and clinical classification was made. Age, gender, auxological data, bone mineral density (BMD), and bone fragility before and after therapy were evaluated. Efficacy of alendronate and pamidronate on the bone density were compared.Results: Of the 21 patients, 12 were male (57.1%), 9 were female (42.9%) and median age was 5.64 years. According the Sillence classification, 10 patients were classified as type I, 9 cases as type III, and 2 cases as type IV. Diagnoses were made by multiple fractures (10 cases), pathological sole fracture (5 cases), blue sclera with history of fracture (2 cases), maternal OI, blue sclera, and decreased BMD (1 case), bone deformity, family history, and blue sclera (1 case). Pamidronate (13 cases) and alendronate (8 cases) were given as medical therapy. Basal DEXA z-score increased from -4.00 at baseline to -2.80 after 12 months of therapy (p

Introduction: Rickets is a group of diseases presenting with skeletal deformities and decreased growth rate due to diminished epiphyseal calcification. It has been previously reported that in our country, nutritional rickets with Vitamin D insufficiency is an important healthcare problem.Material and Method: In this study, we have evaluated 20 patients with rickets being followed up in pediatric endocrinology outpatient clinic of Uludag University between 2006 and 2010. The diagnosis of nutritional rickets was defined with positive response to treatment and hypocalcaemia accompanied by one of the followings; rickets specific radiological changes, high alkaline phosphates levels or low Vitamin D levels. p

Introduction: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. The course of the disease can be silent and may cause serious health problems when the diagnosis is delayed. “Screening Program for CH” has facilitated early diagnosis and treatment preventing severe complications. Materials and Method: The records of the 140 patients with CH were retrospectively analyzed. The patients with CH were compared before and after the screening program. Results: Of the 140 cases, 74 (52.9%) were female and 66 (48.4%) were male. The clinical presentations of the patients with CH were jaundice (32.1%), constipation (32.1%), referral due to high TSH (25.7%), and growth retardation (10.7%). The etiologies of CH based on scintigraphic imaging of the thyroid gland (32 cases) were thyroid dyshormonogenesis in 43.7%, thyroid agenesis in 43.7%, and ectopic thyroid in 12.6%. The mean age at diagnosis was 292±632 days (370.9±704.6 days before screening, 35.2±48.3 days after screening). A total of 36 patients were diagnosed with mental retardation (35 were diagnosed prior to screening). Mean height SDS of patients diagnosed after screening program was significantly higher than that of those diagnosed before screening program (p=0.02). Mean serum TSH, TT4, and FT4 at admission were 144.8±227.1 mIU/ml, 4.92±4.44 mcg/dl, and 0.63±0.41 ng/L, respectively. Conclusions: Significant reduction in the number of patients with mental retardation after the screening program shows once again the importance of this program. (Journal of Current Pediatrics 2011; 9: 28-33)

Introduction: Osteoporosis which is primarily known as an adult disease may be encountered secondarily due to chronic diseases in children. Biphosphonates can be safely used in treatment with proven benefits. Alendronate is often preferred because of its advantage of oral use. Here, the efficiency and safety of alendronate in children with secondary osteoporosis were evaluated. Materials and Method: A total of 46 children (28 boys; 60.9% and 18 girls; 39.1%) with secondary osteoporosis were included. Alendronate was given orally at a dose of 5 mg once daily for children less than 30 kg and 10 mg once daily for those weighing 30 kg or more. Bone mineral density (BMD) was evaluated with DEXA taken at baseline, at 6th month, at 12th month and at 24th month. Results: Mean standard deviation scores (SDS) of height, weight and body mass index were -2.43, -2.82 and -1.72, respectively. Serum Ca, P and ALP levels were all normal. Mean BMD SDS at baseline, 6th month, 12th month and 24th month were -4.03±0.96 -3.51±1.02, -2.82±1.09 and -2.43±0.93, respectively. Improvements in BMD z-scores at 6th, 12th and 24th months compared to baseline were all statistically significant.Conclusion: Our results showed that oral alendronate treatment which is more comfortable and cheaper than parenteral ones results in significant improvements in BMD, can be safely used and easily tolerated in children with secondary osteoporosis, as in adults. Though a plenty of studies were performed in children, there is still no consensus on the preferred and safe dose of the drug and the duration of treatment, as well as from the beginning of what age can the drug be introduced to the children requiring osteoporosis treatment. (Journal of Current Pediatrics 2010; 8: 86-9)

Introduction: There are a plenty of factors influencing glycemic control in children with type 1 diabetes mellitus (DM). The aim of this study was to determine the factors influencing metabolic control in children with type 1 DM. Materials and Method: The study was performed in 200 children with type 1 DM between the ages 6 months to 18 years. This study was conducted by interviewing individually with the children and their families and completing the questionnaires related to their demographic features and data associated with their illness. The laboratory findings and medical information of the patients from the charts were also retrospectively recorded. Results: There were a total of 200 patients including 104 (52%) girls and 96 (48%) boys. The mean age of the patients was 11.7 (±4.26) years. The mean duration of diabetes was 3.8 years (6 months to 14 years). Eighty-nine percent of all patients and all of the patients between 12 and 18 years of age were on intensive insulin therapy. Mean insulin dose was 0.84±0.19 units/kg/day. The mean HbA1c value was 8.8%. Body mass index (BMI) mean z-score was -0.06±1.19. There were no correlations between HbA1c and the duration of diabetes or age although a positive correlation was found with insulin dose (r=0.27 p

Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra), costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia). It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic signs that may be severe. The disease presents with kyphoscoliosis and chest abnormalities along with thoracic vertebral fusion and hemivertebral appearance. Ribs may demonstrate fusion. Based on those involvements, the disease can be categorized as spondylothoracic, spondylocostal, ischiovertebral dysplasia, and cervicofaciothoracic syndrome.Diagnosis is established by the help of clinical characteristics. Radiography might contribute to the diagnosis by revealing changes in the skeletal system. Case Report: A three-year-old male patient presented with operated left undescendent testis and buried penis. On physical examination, he also had a dysmorphic face characterized by macrocephaly, hypertelorism, prominent eyes, a flattened nasal bridge, triangular-fish mouth, gingival hypertrophy and left hand clinodactyly. Radiographic examination documented mesomelic shortening of the radius-ulna, malsegmentation of the thoracal spine and the ribs fusion.Conclusion: Robinow syndrome is a rare syndrome which can be diagnosed by typical facial appearance and radiologic findings. (Journal of Current Pediatrics 2010; 8: 44-7)

Aim: The second dose of measles vaccination has been performed since 1998 in Turkey. As a result of measles vaccination campaign in schools (MVCS) between September to October 2003, the children vaccinated once or twice before campaign would be vaccinated once more. We planned to investigate the immunity provided by campaign and the influence of vaccination on the hematological parameters. Materials and Method: Blood samples were taken one month before and after MVCS. Measles antibody titres and whole blood counts (leukocyte counts, hemoglobin level, hematocrit, thrombocyte counts, mean corpuscular volume and red cell distribution width) were evaluated. The individuals were classified according to previous vaccination number and to socioeconomic status such as low or high. A total of 164 cases were enrolled in the study and hematological parameters were evaluated in 119 children. Results: The mean age of 164 cases (79 males, 85 females) was 11.3±1.8 years. The measles seropositivity increased from 95.04% to 99.38% after MVCS (p=0.039). Leukocyte counts reduced from 8.04±1.95x109/L to 7.07±2.04x109/L (p

Retinitis pigmentosa (RP) is characterized by progressive loss of vision and accompanied by many syndromes. Therefore, early diagnosis is very important in RP. Now, definitive treatment of RP is not available. Diagnosis is performed with good medical history and ophthalmolojical examination. We present a patient with RP and describe diagnosis, treatment and approach to this disease. (Journal of Current Pediatrics 2008; 6: 43-6)

Amaç: Diyabetik ketoasidoz (DKA) tip 1 diabetes mellituslu (T1DM) çocuklarda önemli ölçüde mortalite ve morbiditeye neden olan ciddi bir durumdur. Çocuklarda DKA nedeniyle hastaneye yatış tüm hastane yatışlarının %2’si ile %8’i arasındadır. Yeni T1DM tanılı hastaların ortalama %25’i DKA ile başvururlar. Bu çalışmada DKA ile başvuran T1DM’li çocukların sosyodemografik ve klinik özelliklerinin değerlendirilmesi amaçlanmıştır.Gereç ve Yöntem: Ocak 2003 ile Ekim 2008 tarihleri arasındaki yaklaşık 6 yıllık süre içerisinde kliniğimize T1DM tanısıyla yatırılan 490 hastanın dosyası geriye dönük olarak incelenerek DKA tanısı alan 163 hastanın sosyodemografik özellikleriyle klinik ve laboratuvar bulguları ayrıntılı olarak gözden geçirilmiştir.Bulgular: T1DM ile kliniğimize yatırılan olguların %33,2’sinin DKA ile başvurduğu ve toplam DKA atak sayısının 190 olduğu saptanmıştır. Olguların yaş ortalaması 11,02±4,57 yıl, DKA’nın en sık görüldüğü yaşlar 10-15 (%39,3) yaş grubu, en nadir görüldüğü yaşlar ise 0-5 (%16,0) yaş grubu olarak bulunmuştur. Tekrarlayan atak oranı %14,2 olup tekrarlayan atağı olan olguların %85’i (6/7) kızdır. DKA ataklarının Ocak-Mart ve Eylül-Kasım dönemlerinde zirve yaptığı tespit edilmiştir. Ağır DKA ile başvuru en fazla (%54,5) 0-5 yaş grubunda görülmüştür. Asidozdan ortalama çıkma süresi 14,29±12,14 saat, ortalama kan şekeri 473,09±141,07 mg/dl ve ortalama HbA1c 12,04±2,42 olarak bulunmuştur. Bu süre içerisinde bir hasta kaybedilmiş olup mortalite oranı %0,5’tir (1/190). Sonuç: Hastaları ilk gören birinci basamak hekimlerinin DKA hakkındaki bilgilerini artırmak ve ağır DKA ataklarının en sık görüldüğü ve kaybedilen tek olgunun yer aldığı 0-5 yaş grubunda tedaviyi çok daha yavaş ve dikkatli bir biçimde sürdürmek morbidite ve mortaliteyi azaltacaktır. (Güncel Pediatri 2008; 6: 94-8)

Aim: This study aimed to investigate the relationship between adenoid hypertrophy, the most common cause of obstructive sleep apnea (OSA) in children, with the systemic immune inflammation index (SII) and the pan-immune inflammation value (PIV), and to evaluate the clinical utility of SII and PIV in prognostic and predictive aspects. Materials and Methods: The retrospective data from 29 patients presenting to the otorhinolaryngology clinic with dyspnea and undergoing adenoidectomy for OSA between June, 2022 and June, 2023 were reviewed. Thirty age- and sex-matched healthy subjects were included as the control group. The preoperative and postoperative 6-month SII and PIV values of both groups were compared. Results: There was no significant difference between the groups in terms of age and gender (p>0.05). Platelet SII and PIV were statistically significantly higher in patients in the preoperative period compared to the control group (p<0.05). No significant differences were found in the preoperative neutrophil, lymphocyte, and monocyte counts between the patients and the control subjects (p>0.05). Postoperative neutrophil, platelet, and monocyte counts, as well as the SII and PIV values of the patients, were significantly higher than of those in the control group (p<0.05). Conclusion: Our study highlights the potential utility of SII and PIV in assessing systemic inflammation in adenoid hypertrophy-related OSA. However, the unexpected increase in postoperative SII and PIV values underscores the need for further research into their clinical implications. [ABSTRACT FROM AUTHOR]