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Systemic pseudohypoaldosteronism is a rare salt wasting syndrome that is caused by inactivating variants in genes encoding epithelial sodium channel subunites. Hyponatremia, hyperkalemia, metabolic acidosis, increased aldosteron and renin levels are expected findings of this disease. It is difficult to manage this disease due to high dose oral replacement therapy. Furthermore patients with systemic pseudohypoaldosteronism require life-long therapy. Here we report a patient with systemic PHA due to SCNN1B variant whose hyponatremia and hyperkalemia was detected at the 24th hour of life. Hyperkalemia did not improve with conventional treatments and dialysis was required. Also he developed myocarditis and hypertension in follow-up. Difficulties in diagnosis and treatment of this patient were discussed in this report. Also we review the literature on common features of patients with SCNN1B variant.

Background Osteogenesis imperfecta (OI) is a genetic disorder in which there are problems in tissues containing type I collagen, predominantly the cornea and sclera in the eye. Although there are many studies on problems with the anterior segment of the eye in patients with OI, studies on posterior structures are limited. Involvement of the sclera may affect the retinal nerve fibre layer (RNFL), which is indirectly related to intraocular pressure. In addition, the retina and choroid containing type I collagen may be affected. The aim of the study was to compare the posterior segment structures of the eye, including the RNFL, retina, and choroid, in patients with OI to those of healthy control subjects. Methods This cross-sectional study recruited 19 patients with OI, as well as 22 age- and gender-similar healthy control subjects. Measurements of the RNFL, retina, and choroid were obtained with optical coherence tomography (Spectralis SD-OCT, Heidelberg Engineering, Heidelberg, Germany). Results Patients with OI (mean age 14.32 ± 5.08 years) and the control group (mean age 13.73 ± 3.56 years) had similar age, refractive error, and intraocular pressure values (p > 0.05). There was no difference between groups in terms of RNFL thickness, including the superonasal, nasal, inferonasal, inferotemporal, temporal, and superotemporal sectors, retinal thickness, and choroidal thickness from five different locations (p > 0.05, for all). Conclusion According to these results, OI does not clinically affect the RNFL, retina, and choroid in childhood.

Objective We aimed to evaluate the clinical, radiological and pathological findings of children and adolescents with thyroid nodules. Method Data of 121 children and adolescent with thyroid nodule and had fine needle aspiration (FNA) were examined retrospectively. Concomitant thyroid disease, ultrasound (US) features of the nodule, FNA and histopathological results were recorded. FNA results were assessed according to The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC). Results Median age of the cases was 14 years (range 3-18 years) and 81% were female. FNA results of patients were insufficient in 1 (0.8%), benign in 68 (56.2 %), indeterminate in 44 (36.4%) and malignant in 8 (6.6%) patients. Among 39 patients who were directed to surgery, 10 patients had differentiated thyroid cancer (DTC). The total malignancy rate was 10.0% (10/100). Control FNA results showed progress according to TBSRTC in 18.7% of benign results and 4 of 75 patients had DTC in surgical excision. 2 of 22 patients with atypia of undetermined significance (AUS) who continued follow-up was diagnosed with DTC. Male gender, presence of Hashimoto thyroiditis and US findings of uninodularity; hypoechogenicity; increased blood flow; irregular margins; solid structure; microcalcification and presence of abnormal cervical lymph nodes were associated with malignancy. Conclusion Our results revealed that, thyroid nodules are 10% malignant in children and adolescents. Patients with AUS has 9% potential for malignancy and patients with initially benign FNA result may have changes in TBSTRC findings in repeat FNA with a 5.3% false negative rate.

Maturity-onset diabetes of young ‘MODY’ Type 6 is a rare form of monogenic diabetes caused by mutations in Neuronal differentiation 1 (NEUROD1). Clinical features vary in a large spectrum in terms of age and BMI at diagnosis. Here, we reported the youngest patient with a NEUROD1 variant to the best of our knowledge. A 2.1-year-old girl was referred to pediatric endocrinology clinic for elevated fasting blood glucose (BG) (104 mg/dL) which was detected at another center where she had been evaluated for loss of appetite. Her maternal aunt and uncle had been diagnosed with type 2 diabetes mellitus (DM) at the age of 40 and 45 years; they were obese (BMI: 30.2 and 30.6 kg/m2). At the age of 3.7 years old, she was hospitalized for buccal cellulitis and plasma glucose concentration was 239 mg/dL at admission. Targeted next-generation sequencing (NGS) was performed considering the stress induced hyperglycemia without serious illness, negative islet cell antibodies and insulin autoantibodies, age at the presentation, and family history of DM. NGS analysis revealed a previously reported heterozygous missense variant in NEUROD1. Segregation studies showed that the identified variant was inherited from her 44-year-old mother with a BMI of 27.2 kg/m2 and a normal oral glucose tolerance test (OGTT). Heterozygous NEUROD1 mutations cause low-penetrant diabetes that is heterogeneous in terms of clinical features as some patients fulfill the classic MODY definition and others are mimicking type 2 DM. Clinical manifestations and family history should be carefully evaluated in patients with stress induced hyperglycemia to identify candidate cases for molecular testing, and proper follow-up should be initiated in affected individuals.

Objective: Hashimoto thyroiditis is a chronic inflammatory disease caused by antibodies against the thyroid gland. Neutrophil/lymphocyte ratio and platelet/lymphocyte ratio are parameters used to show inflammation. In this study, it was planned to evaluate systemic inflammation using neutrophil/lymphocyte ratio and platelet/lymphocyte ratio in children and adolescents with euthyroid Hashimoto thyroiditis.Material and Methods: The neutrophil/lymphocyte and platelet/lymphocyte ratios of 72 patients with Hashimoto thyroiditis between the ages of 8-18 years, known to be in the euthyroid state for 6 months, were compared with 50 controls without known additional disease. Patients with Hashimoto thyroiditis were also grouped among themselves as those who received and who did not receive levothyroxine treatment and those with a thyroid stimulating hormone level of, Amaç: Hashimoto tiroiditi, tiroit bezine karşı oluşmuş antikorlar aracılığıyla gelişen kronik inflamatuvar bir hastalıktır. Nötrofil/lenfosit oranı ve platelet/lenfosit oranı inflamasyonu göstermede kullanılan parametrelerdir. Bu çalışmada ötiroid Hashimoto tiroiditli çocuk ve adölesanlarda nötrofil/lenfosit oranı ve platelet/lenfosit oranı kullanılarak sistemik inflamasyonun değerlendirilmesi planlandı.Gereç ve Yöntemler: Yaşları 8-18 arasında olan, 6 aydır ötiroid durumda olduğu bilinen 72 Hashimoto tiroiditli olgunun nötrofil/lenfosit ve platelet/lenfosit oranları bilinen ek hastalığı olmayan 50 kontrol ile karşılaştırıldı. Hashimoto tiroiditli olgular, kendi arasında levotiroksin tedavisiyle ötiroid olanlar ve tanıdan itibaren ilaçsız ötiroid olanlar ve tiroit stimulan hormon düzeyi

Objective: Familial hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disease caused by a mutation in the transient receptor potential melastatin 6 (TRPM6) gene and is characterized by selective magnesium malabsorption. Affected cases are usually diagnosed during infancy and usually present with seizures due to hypocalcemia and hypomagnesemia. Irreversible neurological deficits and arrhythmias can be observed without appropriate treatment. The aim was to evaluate the long-term follow-up of patients with genetically confirmed HSH. Methods: A total of six patients with HSH, two of whom were siblings, were included. Age at diagnosis, clinical, laboratory and follow-up data on admission were recorded. All 39 exons of the TRPM6 gene and flanking exon-intron junctions from genomic DNA were amplified and sequenced in all cases. Results: The median (range) follow-up duration was 12.1 (7.6-21.7) years. All cases were diagnosed in infancy. Four different mutations, three of which had not been previously reported, were detected in the TRPM6 gene. Treatment compliance was good and there were no severe complications in the long-term follow-up of cases. However, mental retardation, specific learning difficulty and attention deficit/hyperactive disorder were observed as comorbidities. Conclusion: Of the four different TRPM6 mutations in this small cohort, three had not been previously reported. The long-term prognosis of HSH appears to be good, given early diagnosis and good treatment compliance. This long-term follow-up and prognostic data and the three novel mutations will contribute to the published evidence concerning this rare condition, HSH, and it is hoped will prevent negative outcomes.

In recent years, interest in the evaluation of vitamin D levels and the possible outcomes of their deficiency during pregnancy has increased. However, there is no consensus on when to start vitamin D supplementation, its duration, dosage, and the optimum level during pregnancy. The toxicity of vitamin D is as important as its deficiency. From the history of a 5-day-old male baby who was investigated for hypercalcemia, it was learned that the mother took 300,000 IU vitamin D-five ampoules/oral at 30 weeks of gestation every other day. The infant was born prematurely, postpartum bradycardia required positive pressure ventilation, and his hypercalcemia lasted approximately 4 months despite treatment. Maternal excessive and inappropriate use of vitamin D can cause preterm labor and severe hypercalcemia, which is a life-threatening complication in the neonatal period. This case is presented to draw attention to the negative effects of maternal high-dose vitamin D during pregnancy.

Idiopathic hypogonadotropic hypogonadism (IHH) comprises a group of rare genetic disorders characterized by pubertal failure caused by gonadotropin-releasing hormone (GnRH) deficiency. Genetic factors involved in semaphorin/plexin signaling have been identified in patients with IHH. PlexinB1, a member of the plexin family receptors, serves as the receptor for semaphorin 4D (Sema4D). In mice, perturbations in Sema4D/PlexinB1 signaling leads to improper GnRH development, highlighting the importance of investigating PlexinB1 mutations in IHH families. In total, 336 IHH patients (normosmic IHH, n = 293 and Kallmann syndrome, n = 43) from 290 independent families were included in the present study. Six PLXNB1 rare sequence variants (p.N361S, p.V608A, p.R636C, p.V672A, p.R1031H, and p.C1318R) are described in eight normosmic IHH patients from seven independent families. These variants were examined using bioinformatic modeling and compared to mutants reported in PLXNA1. Based on these analyses, the variant p.R1031H was assayed for alterations in cell morphology, PlexinB1 expression, and migration using a GnRH cell line and Boyden chambers. Experiments showed reduced membrane expression and impaired migration in cells expressing this variant compared to the wild-type. Our results provide clinical, genetic, molecular/cellular, and modeling evidence to implicate variants in PLXNB1 in the etiology of IHH.

Objective To retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised male. Methods A national database was created. The data of patients were asked to be recorded in the data form. Results The median (range) age of diagnosis was three (0.1-18.3) years in 44 patients. Twenty nine cases were diagnosed after the age of two years. Most (95.4%) cases were stage 4-5 virilized. Hysterectomy and bilateral salpingoopherectomy, at a median age of 7.25 (2.4-25.3) years, was performed in 35 cases. Testicular prostheses were placed in 11 (25%) cases at a median age of 11.2 (2.8-17) years. The median final height was 149.2 (132.8-172) cms in 38 patients, including simple virilizing (n=18), salt-wasting (n=6), and 11-beta hydroxylase (n=12). Of the 16 patients above the age of eighteen, university education was completed in 25%. Conclusion It was seen that most (65.9%) of the 46,XX CAH cases raised male were diagnosed after two years of age. In these cases, hysterectomy and bilateral salpingoopherectomy, genital corrective surgeries and testicular prosthesis operations were performed in a very wide age rage.

Eren, Erdal/0000-0002-1684-1053; yilmaz, gulay can/0000-0003-0525-1231; Demir, Korcan/0000-0002-8334-2422; UCAKTURK, Seyit Ahmet/0000-0001-8666-4454; Kara, Cengiz/0000-0002-8989-560X WOS: 000469271100005 PubMed: 30396880 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 II 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 (r(s) = 0.402, p

Objectives Nutritional rickets (NR) is still an important problem and one which increasing influxes of immigrants are further exacerbating. This study evaluated cases of mostly immigrant children followed up with diagnoses of NR in our pediatric endocrinology clinic. Methods Details of 20 cases diagnosed with NR between 2017 and 2020 were retrieved from file records. Results Twenty (11 male) cases were included in the study. Three (15%) were Turkish nationals and the others (85%) were immigrants. Hypocalcemia and hypophosphatemia were detected in 17 and 13, respectively. Alkaline phosphatase (ALP) values were normal in two cases, while ALP and parathyroid hormone (PTH) values were elevated in all other cases, and PTH levels were very high (473.64 ± 197.05 pg/mL). 25-hydroxyvitamin D levels were below 20 ng/mL in all cases. Patients with NR received high-dose long-term vitamin D or stoss therapy. Six patients failed to attend long-term follow-up, while PTH and ALP levels and clinical findings improved at long-term follow-up in the other 14 cases. Conclusions The elevated PTH levels suggest only the most severe cases of NR presented to our clinic. Clinically evident NR is therefore only the tip of the iceberg, and the true burden of subclinical rickets and osteomalacia remains unidentified. Public health policies should therefore focus on universal vitamin D supplementation and adequate dietary calcium provision, their integration into child surveillance programs, adequate advice and support to ensure normal nutrition, exposure to sunlight, and informing families of the increased risk not only for resident populations but also for refugee and immigrant children.

Objectives Laron syndrome (LS) is a disease caused by growth hormone receptor (GHR) defects. It is characterized by severe postnatal growth retardation and distinctive facial features. Case presentation In this case report, we describe the clinical and biochemical characteristics of two siblings with LS, a sister and a brother, and identify a homozygous c.344A> C (p.Asn115Thr) variant in GHR. The sister was 11 years 9 months old with a height of 127.5 cm (-3.86 SDS), and the brother was 14 years 10 months old with a height of 139 cm (-4.27 SDS). Their phenotype did not have features suggesting classical LS. Conclusion In the current literature, there are three cases with the same missense variant. Our cases differ from them in clinical (higher height SDS, mild dysmorphism including a broad forehead, malar hypoplasia, prominent columella and chin, thick lips) and biochemical characteristics. Here, we present the variable expressivity in the two siblings.

Langerhans cell histiocytosis (LCH) is a rare disease of the monocyte-macrophage system. Although it is known that bone involvement is seen very frequently in cases with LCH, our case is the first case with a lytic-destructive lesion in the bone structure forming sella turcica. A 4-year-old, 5-month-old male patient who applied to our outpatient clinic was diagnosed with Langerhans cell histiocytosis in further examination after the diagnosis of central diabetes insipidus (CDI) was made. On cranial magnetic resonance imaging (MRI), widespread lytic-destructive bone lesions were observed in the bone structure forming the sella (sphenoid bone), sellar destruction not previously described in the literature. Sellar erosion has not been reported before in cases diagnosed with LCH in the literature. The presence of low-grade fever in a patient presenting with isolated CDI is a warning sign for the diagnosis of LCH.

Primary hypoaldosteronism is a rare autosomal recessive disorder that causes defects in aldosterone synthase enzyme activity due to an inactivating mutation in the CYP11B2 gene. Patients with primary hypoaldosteronism exhibit symptoms such as vomiting, dehydration, feeding problems, and failure to thrive. This disease is characterized by hyponatremia, hyperkalemia, metabolic acidosis, high renin, and low aldosterone levels. It also causes salt loss syndrome in the newborn period. In this article, we described a newborn with primary hypoaldosteronism who showed feeding problems and weight loss. Laboratory findings revealed hyponatremia, hyperkalemia, high plasma renin, and low aldosterone levels, while genetic analysis showed homozygous c.788T>A (p.Ile263Asn) variant in the CYP11B2 gene (NM_000498.3). Our patient responded well to oral salt and fludrocortisone treatments. Early diagnosis and treatment are particularly important because primary hypoaldosteronism causes life-threatening electrolyte disorders and salt loss syndrome.

Objective: There have been recent advances in the understanding of the etiology of idiopathic central precocious puberty (iCPP) including new genetic associations. The aim of this clinical study was to determine the frequency of MKRN3 mutation in cases of familial iCPP. Methods: Potential sequence variations in the maternally imprinted MKRN3 gene were evaluated in 19 participants from 10 families using next-generation sequencing analysis. Results: MKRN3 variation was found in only one of the 19 (5.3%) subjects. The male patient, who had a medical history of precocious puberty, had a heterozygous mutation, NM_005664.3:c.630_650delins GCTGGGC (p.P211Lfs*16). The father of this patient also had a history of precocious puberty and had the same mutation. p.P211Lfs*16 is a novel variant and it was identified as probably pathogenic by in silico analysis, consistent with the clinical findings. Conclusion: Given that MKRN3 mutation was detected in only one patient, with a paternal history of precocious puberty, this reinforces the importance of accurate family history taking. The detected incidence of MKRN3 variants in our case series was much lower than reported elsewhere which suggests a need for further studies in Turkish iCPP patients.

Objective Data concerning subnormal growth velocity (GV) and factors that influence this during gonadotropin-releasing hormone analog (GnRHa) therapy for idiopathic central precocious puberty (ICPP) are scarce. We investigated the incidence of subnormal GV and associated factors in patients receiving GnRHa therapy for ICPP. Methods In this retrospective cohort study, the records of 50 girls who had been diagnosed with ICPP and started on GnRHa treatment before the age of eight years were investigated. Subnormal GV frequency, related factors during GnRHa therapy and the effect on final height were examined. Results During the treatment, a significant decrease in the annual GV and GV standard deviation score (SDS) of the patients was observed. In 16 (32%) patients GV never declined below -1 SDS, while a decline was noted once and twice in 19 (38%) and 15 (30%) patients respectively. The median age of detection of subnormal GV was 9.9 (4.9-10.9) years. Patients with pubic hair at diagnosis were found to have an increased risk of subnormal GV (p=0.016). There was a significant negative correlation between diagnostic basal luteinizing hormone (LH) level and the first and second year GV SDS (p=0.012 and 0.017 respectively). A significant negative correlation between bone age at diagnosis and 3rd year GV SDS, and 4th year GV SDS (p=0.002 and p=0.038) was also observed. LH suppression significantly increased during treatment (p=0.001). Conclusion In girls with ICPP the risk of subnormal GV appears highest at the 3rd year of GnRHa treatment, particularly in those patients with, at the time of diagnosis, pubic hair in conjunction with high baseline and peak LH and advanced BA and excessive LH suppression on follow-up.

Çalışmada 24 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır. 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 Pill 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.

58th Annual Meeting of the European-Society-for-Paediatric-Endocrinology (ESPE) -- SEP 19-21, 2019 -- Vienna, AUSTRIA UCAKTURK, Seyit Ahmet/0000-0001-8666-4454 WOS: 000521073900009 PubMed: 31475510 Objective: 5-Hydroxymethylfurfural (HMF) is formed when sugars are heated in the presence of amino acids. HMF is naturally present in many foods. To investigate the toxic effects of HMF on the reproductive system of peripubertal rats. Methods: In the study, 24 immature female Wistar rat were divided into three groups: control (CT) fed with no HMF; low dose fed with 750 mg/kg/day of HMF and high dose (HD) groups fed with 1500 mg/kg/day of HMF. All groups received these diets for three weeks from postnatal day (PND) 21. The vaginal opening (VO) was monitored daily and euthanasia occurred on PND 44. Gonadotropin, estradiol (E2), progesterone and anti-Mullerian hormone (AMH) concentrations were measured. Reproductive organ weights and ovarian follicle counts were compared. Results: The HD HMF group had earlier VO. Higher mean luteinising hormone (2.9 +/- 1.2 vs 1.3 +/- 0.3 mIU/mL) and mean E2 (34.7 +/- 8.8 vs 21.2 +/- 3.9 pg/mL) and lower mean AMH (2.7 +/- 0.5 vs 4.7 +/- 0.7 ng/mL) concentrations were found in the HD compared to the CT group. The HD group also had increased number of secondary atrophic follicles. Conclusion: These results indicate that peripubertal exposure to HMF at HD result in precocious puberty and decreased AMH levels in female Wistar rats. European Soc Paediat Endocrinol Turkish Pediatric Endocrinology and Diabetes Society This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society.

Aim and Objective: This study aimed to investigate the value of Thiol/Disulfide homeostasis in pediatric diabetic ketoacidosis patients suffering from type 1 diabetes mellitus. Materials and Methods: This study featured children who were diagnosed with diabetic ketoacidosis and who were consecutively admitted to pediatric intensive care within one year of their diagnosis. Thiol/disulfide homeostasis was evaluated in 45 pediatric patients suffering from DKA, as well as 45 healthy controls of parallel gender and age. Thiol/disulfide homeostasis parameters were measured using a novel automated measurement method and the correlation between demographic data and parameters was measured. Results: Pediatric patients were found to have low native thiols, total thiols and disulfide levels with type 1 diabetes after DKA (331.82±106.40, 362.71±113.31, 17.02±5.33 μmol/L, respectively) as compared to the control group (445.08±24.41, 481.21± 28.47, 18.06±5.12 μmol/L, respectively). Conclusion: Thiol/disulfide homeostasis was distorted in pediatric patients with DKA. Furthermore, it was found that they are not likely to return to normal, immediately after treatment.

Aim and Objective: Ischemia modified albumin (IMA) is a biomarker that has been introduced recently for use in the evaluation of oxidative stress. The aim of this study was to measure the ischemia modified albumin serum levels in pediatric patients with diabetic ketoacidosis (DKA) during acidosis and after the patient recovered from acidosis and to compare these with the control group. Materials and Methods: Pediatric patients with Type I diabetes mellitus (T1DM) who were admitted to the pediatric intensive care unit with the diabetic ketoacidosis were assigned as the study group and healthy children who were admitted to the outpatient clinic and decided as healthy after clinic and laboratory evaluation were selected as the control group. IMA and adjusted IMA levels were evaluated in the blood samples from the control group and the study group when admitted first time to the intensive care unit during the acidosis period (DKA before treatment, DKA-BT), and after recovering from acidosis (DKA after treatment, DKA-AT). Results: A total of 24 pediatric patients with diabetic ketoacidosis and 30 healthy control children matching age and sex were included in the current study. The albumin levels in pediatric patients with T1DM during DKA-BT were higher than the albumin levels after acidosis (4.101±0.373, 3.854±0.369 g/dL, respectively) (p Conclusion: In children with T1DM, even though acidosis recovered following the treatment in diabetic ketoacidosis, which is an oxidative stress marker, the ischemia modified albumin levels and adjusted ischemia modified albumin levels were high.

Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder with early-onset obesity. Investigation of this entity have increased our insight into the important role of the leptin-melanocortin pathway in energy balance. Here, we present a patient with POMC deficiency due to a homozygous c.206delC mutation in the POMC gene. We discuss the pathogenesis of this condition with emphasis on the crosstalk between hypothalamic and peripheral signals in the development of obesity and the POMC-melanocortin 4 receptors system as a target for therapeutic intervention.

Background: In this study, we aimed to evaluate FSH, LH responses obtained during LHRH-ST according to two different cut-off values, to determine the diagnostic response times, and to find the optimal blood collection times that could reduce the economic and time burden of LHRH-ST. Materials and Methods: Patients who underwent LHRH-ST in our clinic with the preliminary diagnosis of precocious puberty (PP) between 01/08/2016 and 31/12/2017 were retrospectively enrolled to the study. In this study 207 girls with PP were included and some of them (102 according to C1 and 139 according to C2) had central PP (CPP). Test response and response times were evaluated according to both cut-off values of stimulated peak LH pubertal responses as 5 mIU/ml (the 1st cut-off = C1) and 3.3 mIU/ml (the 2nd cut-off = C2). Results: Totally, 207 girls with a mean age of 7.5 ± 1.22 (3.4-9.5) years were included in the study. With LHRH-ST; 49.2% (n = 102), 67% (n = 139) of the cases were in pubertal period according to C1, C2, respectively. According to C1; pubertal LH was present in 94.1% (n = 96) of 102 patients who reached pubertal LH value in 45th minutes. The highest pubertal response was obtained in the 45th minute. According to C2, of 139 patients who reached pubertal LH; pubertal LH was determined in 98.5% (n = 137) in the 45th minute. Pubertal LH levels were determined according to both cut-off values in all 27 patients with baseline LH ≥0.31 mIU/ml. Conclusion: It was determined that measuring LH at 45th minutes during LHRH-ST was sufficient in 94.1% of the cases according to C1 and 97.1% of the cases according to C2. It was concluded that the 30th, 45th, and 60th minute samples were enough to assess pubertal LH response in 100%of the cases. If the basal LH is found to be ≥0.31 mIU/ml in girls with puberty findings, we recommend that the diagnosis of precocious puberty would be made without performing LHRH-ST.

AIM:To compare the corneal parameters of children with congenital isolated growth hormone deficiency and healthy subjects.METHODS: In this cross-sectional, prospective study, 50 cases with growth hormone (GH) deficiency treated with recombinant GH and 71 healthy children underwent a complete ophthalmic examination. The corneal hysteresis (CH), corneal resistance factor (CRF), Goldmann-correlated intraocular pressure (IOPg) and corneal-compensated intraocular pressure (IOPcc) were measured with the Ocular Response Analyzer (ORA). Central corneal thickness (CCT) was measured by a ultrasonic pachymeter.RESULTS: The mean age was 13.0±3.0 years in the GH deficiency group consisting of 21 females and 29 males and 13.4±2.4 years in the healthy children group consisting of 41 females and 30 males. There was no statistically significant difference between the groups for gender or age (Chi-square test, P=0.09; independent t-test, P=0.28, respectively). The mean duration of recombinant GH therapy was 3.8±2.4y in the study group. The mean CH, CRF, IOPg and IOPcc values were 11.0±2.0, 10.9±1.9, 15.1±3.3, and 15.1±3.2 mm Hg respectively in the study group. The same values were 10.7±1.7, 10.5±1.7, 15.2±3.3, and 15.3±3.4 mm Hg respectively in the control group. The mean CCT values were 555.7±40.6, 545.1±32.5 µm in the study and control groups respectively. There was no statistically significant difference between the two groups for CH, CRF, IOPg, IOPcc measurements or CCT values (independent t-test, P=0.315, 0.286, 0.145, 0.747, 0.13 respectively).CONCLUSION: Our study suggests that GH deficiency does not have an effect on the corneal parameters and CCT values. This observation could be because of the duration between the beginning of disease and the diagnosis and beginning of GH therapy.

In patients with congenital adrenal hyperplasia, testicular adrenal hyperplasia and tumors can develop. A three-year-old boy was admitted to our hospital with complaints of enlarged penis and development of pubic hair. 11beta-hydroxylase deficient congenital adrenal hyperplasia was diagnosed and hydrocortisone treatment was started. His family did not accept treatment well and did not come for check-ups regularly, which is why his metabolic control was poor. In ultrasonographic evaluation, a hypoechoic mass, 10x10 mm in size, was detected in his left testis at 15 years of age and steroid dose was increased. Almost two years later the tumor completely disappeared with high dose steroid treatment. In conclusion, the monitoring of congenital adrenal hyperplasia with ultrasonography is recommended, especially in puberty, because it is important that testicular adrenal rest hyperplasia should be determined before testicular adrenal rest tumors develop. In this case we observed that small testicular adrenal rest tumors disappeared completely with high dose steroid treatment in nearly two years.

The objectives of this study were to determine the cord blood thyroid-stimulating hormone (TSH) and free T(4) (FT(4) ) levels in Turkish neonates and to determine whether these variables reveal iodine deficiency.We collected 818 cords from healthy mothers at parturition and measured levels of FT(4) and TSH. We also measured cord blood FT(4) and TSH levels in different stages of gestation and gender. We grouped the neonates according to cord serum TSH levels, either being less (Group A) or greater (Group B) than 10 mIU/L. Group A included 589 neonates (300 girls [51%] and 289 boys [49%]) and Group B included 229 neonates (105 girls [45%] and 124 boys [55%]).The percentage of subjects with cord blood TSH10 mIU/L and10 mIU/L was 72% and 28%, respectively. Although cord TSH levels in Group B were greater than those in Group A (P0.001), cord blood FT(4) levels in Group B were lower than those in Group A (P0.05). There was no difference between both sex in terms of birthweight and maternal age. TSH and FT(4) levels did not vary according to neonate sex during gestation, except for from week 37 to 41. TSH levels of male neonates at the 41st week of gestation were higher than those of female neonates (P0.05). There were no effects of birthweight on TSH and FT(4) levels if the neonate was lighter than 2500 g at birth. TSH levels of male neonates were higher than those of female neonates when their birthweights were2500 g (P0.05). There was no significant difference in TSH levels according to birthweights in male neonates.Our data provide the normative data for cord blood TSH and FT(4) levels in Turkish neonates and show that iodine deficiency is a still a public health problem in Turkey. These measurements can be useful for detection and verification of hypothyroidism in a screening program for congenital hypothyroidism as well as evaluation of the success of the iodination program.