Trend of type 1 diabetes incidence in children between 2009 and 2019 in Elazig, Turkey.

OBJECTIVE: To assess the incidence of T1D in children aged <15 years in Elazig, Turkey. METHOD: The data of children who have been registered as child with T1D in the database of pediatric diabetes clinic was analyzed. Childhood census data were acquired from the Turkish Statistical Institute. The incidence rates of T1D were calculated for the whole group as well as separately for age group, gender, year of diagnosis, and place of residence, viz. either urban or rural per 100 000 persons per year. The change of incidence during the 10 year observation period was analyzed. RESULTS: The overall mean incidence of T1D in study period was 16.7/100 000 [95% confidence interval (CI): 14.6-19.0] persons per year. The incidence rates of T1D varied from 10.2 to 24.1/100 000 persons per year, representing 2.4-fold variation between 2009 and 2019. The lowest incidence rate was in children aged 0 to 4 years (9.6/100 000 persons per year; CI: 6.9-12.9). There was no difference in incidence rate between genders, incidence rates was significant higher in urban residents. A significant increasing trend of T1D was detected in the total 10-year observation period; the average annual percent change was 7.8%. Subgroup analysis showed that there was significant increasing trend in boys, urban residents, and children aged 5 to 9 years groups. CONCLUSION: This study demonstrated increase in T1D incidence of in children in Elazig and highest regional incidence rate of T1D until now in Turkey compared to previous limited data.

Contribution of KIR genes, HLA class I ligands, and KIR/HLA class I ligand combinations on the genetic predisposition to celiac disease and coexisting celiac disease and type 1 diabetes mellitus.

BACKGOUND AND AIM: There are some common genetic features between celiac disease (CD) and diabetes mellitus type 1 (DM). However, the genetic risk factors have not been fully clarified for CD and the co-occurrence of CD and DM. KIR (killer immunoglobulin-like receptor) genes regulate the cytolitic activity of NK-cells and T lymphocytes. The aim of this study is to evaluate the contribution of KIR genes, KIR ligands, and combinations of KIR/ KIR ligands on the genetic predisposition to CD and co-occurrence of CD and DM. MATERIAL AND METHODS: Forty six patients with CD (n = 46), 20 patients with CD+DM (n = 20), and 60 healthy controls (n = 60) were included in this study. KIR genes and KIR ligands were investigated with PCR-SSOP and PCR-SSP in all subjects, respectively. RESULTS: This study showed that while the telomeric KIR genes (2DS5 and 3DS1), and combinations of 3DS1+HLA-BBw4-Thrand 3DS1+HLA-BBw4-Iso- (p < 0.001, p < 0.001, p < 0.001, and p < 0.001, respectively) were observed more frequently in patients with CD than in controls, the 2DS5, 3DS1 KIR genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- (p = 0.002, p = 0.004, p = 0.036, p < 0.001, and p = 0.007, respectively) were observed more frequently in patients with CD+DM than in controls. CONCLUSIONS: The results of this study indicated that some KIR genes, KIR ligands, and KIR/KIR ligand interactions may be responsible for a predisposition to CD and the coexistence of CD and DM. For development of coexisting CD and DM, the 2DS5 and 3DS1 genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- were found to be risk factors.

The association between plasma carnitines and duration of diabetic ketoacidosis treatment in children with type 1 diabetes.

OBJECTIVES: The aim of this study is to determine the plasma free carnitine and acyl-carnitine levels at the time of diabetic ketoacidosis (DKA) diagnosis, and at the end of DKA treatment and to investigate their association with the duration of DKA treatment in children with DKA. METHODS: A total of 40 children with DKA who were treated consecutively in a tertiary health center for DKA were included in the study. The median age of the children was 11.3 years (1.1-17.5) and 25 of them (62.5%) were girls. In addition to routine blood tests, plasma free carnitine and acyl-carnitine levels were measured just before the start of intravenous insulin therapy and at the time of discontinuation of intravenous insulin therapy when DKA therapy was completed. RESULTS: There was no difference in plasma free carnitine and acyl-carnitine levels before and after DKA treatment (p=0.776 and p=0.743 respectively). However, while the frequency of low plasma free carnitine was 30% at the beginning of the treatment, it was observed that this frequency was 20% at the end of the DKA treatment. There was no correlation between duration of DKA treatment and plasma free carnitine or acyl-carnitine levels at admission (p=0.497, r=-0.111 and p=0.474, r=0.116 respectively). CONCLUSIONS: There is no a relationship between duration of DKA treatment and plasma free carnitine or acyl-carnitine level at admission in children with DKA.

Management of Thyrotoxicosis in Children and Adolescents: A Turkish Multi-center Experience

Objective: To determine the demographic and biochemical features of childhood and juvenile thyrotoxicosis and treatment outcome. Methods: We reviewed the records of children from 22 centers in Turkey who were diagnosed with thyrotoxicosis between 2007 to 2017. Results: A total of 503 children had been diagnosed with thyrotoxicosis at the centers during the study period. Of these, 375 (74.6%) had been diagnosed with Graves' disease (GD), 75 (14.9%) with hashitoxicosis and 53 (10.5%) with other less common causes of thyrotoxicosis. The most common presenting features in children with GD or hashitoxicosis were tachycardia and/or palpitations, weight loss and excessive sweating. The cumulative remission rate was 17.6% in 370 patients with GD who had received anti-thyroid drugs (ATDs) for initial treatment. The median (range) treatment period was 22.8 (0.3-127) months. No variables predictive of achieving remission were identified. Twenty-seven received second-line treatment because of poor disease control and/or adverse events associated with ATDs. Total thyroidectomy was performed in 17 patients with no recurrence of thyrotoxicosis and all became hypothyroid. Ten patients received radioiodine and six became hypothyroid, one remained hyperthyroid and restarted ATDs and one patient achieved remission. Two patients were lost to follow up. Conclusion: This study has demonstrated that using ATDs is the generally accepted first-line approach and there seems to be low remission rate with ATDs in pediatric GD patients in Turkey.

The Role of Irisin, Insulin and Leptin in Maternal and Fetal Interaction

Objective: Insulin is an important hormone for intrauterine growth. Irisin is an effective myokine in the regulation of physiological insulin resistance in pregnancy. Leptin and insulin are associated with fetal growth and fetal adiposity. In this study, we aimed to investigate the relationships between irisin, insulin and leptin levels and maternal weight gain, as well as anthropometric measurements in the newborn. Methods: Eighty-four mothers and newborns were included in the study. Irisin, leptin and insulin levels were measured in the mothers and in cord blood. Anthropometric measurements in the newborn, maternal weight at the beginning of the pregnancy and at delivery were recorded. Results: Birth weight were classified as small for gestational age (SGA), appropriate for gestational age (AGA) and large for gestational age (LGA). There was no difference in irisin levels among the groups. Leptin and insulin levels were found to change significantly according to birth weight (p=0.013, and p=0.012, respectively). There was a negative correlation between the anthropometric measurements of the AGA newborns and irisin levels. This correlation was not observed in SGA and LGA babies. Leptin levels were associated with fetal adiposity. Conclusion: While irisin levels are not affected by weight gain during pregnancy nor by birth weight, they show a relationship with anthropometric measurements in AGA infants. These results may lead to the understanding of metabolic disorders that will occur in later life.

ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease have not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. Currently there are around 80 reported patients although this is likely due to underdiagnosis due to lack of recognition. We present two female patients suspected of ROHHAD due to weight gain starting in early childhood. Clinical and biochemical findings such as respiratory and circulatory dysfunction, hypothalamic hypernatremia, central hypothyrodism, hyperprolactinemia and central early puberty in these patients matched the criteria for ROHHAD syndrome. ROHHAD syndrome should be considered in the differential diagnosis of monogenic obesity.

Pseudotumour Cerebri Presentation in a Child Under the Gonadotropin-Releasing Hormone Agonist Treatment.

Gonadotropin-releasing hormone analogues are common treatment option in central precocious puberty in childhood as well as in endometriosis, infertility, and prostate cancer in adults. Pseudotumor cerebri is a rare side effect observed in adults. We present the case of a girl with precocious puberty treated with triptorelin acetate who developed pseudotumor cerebri after the 4th dose. She had headaches, and her blood pressure was detected to be above the 99 percentile. There were no causes underlying of hypertension such as cardiac, renal, or endocrine. Neurological examination was normal except bilateral papilledema. Cranial magnetic resonance imaging was normal. Cerebrospinal fluid (CSF) opening pressure was elevated. Triptorelin therapy was ceased and acetazolamide was applied; CSF pressure returned to normal. We observed pseudotumor cerebri after precocious puberty treatment, a finding for the first time ever seen in childhood.

A patient developing anaphylaxis and sensitivity to two different GnRH analogues and a review of literature.

Gonadotropin-releasing hormone analogues are used in the treatment of prostate cancer, breast cancer, endometriosis, and uterine leiomyomas in adults and often in the treatment of precocious puberty in children. Many adverse effects have been reported for gonadotropin-releasing hormone analogues, but anaphylaxis is rarely reported as an adverse effect. Frequent cross-reactions, particularly during childhood, and diversity of the time of onset of anaphylactic manifestations complicate the diagnosis. A patient who exhibited anaphylactic allergic reactions to two different agents used in the treatment of central precocious puberty presented here because the case has an atypical course and is the first in the literature.

Premature thelarche related to fennel tea consumption?

BACKGROUND: Isolated premature thelarche is the breast development in the absence of other secondary sex characteristics in prepubertal girls. Fennel is a plant which contains a phytoestrogen called anethole as an active ingredient. CASE: Here, we report a case of a 12-month-old girl who showed breast development that became apparent in the last 3 months. Her medical history revealed that she was given two to three teaspoons of fennel tea by her mother every day for restlessness for the last 6 months. Isolated premature thelarche was diagnosed based on physical and laboratory findings. On follow-up, after cessation of fennel consumption, the breast development of the patient regressed gradually and became normal by the end of 1 year. CONCLUSION: Reporting this case, we want to emphasize the importance of awareness of fennel tea, a commonly used plant in babies, as a preventable cause of premature thelarche.

An association of hypochondroplasia and immune deficiency.

A 4-year-old boy with hypochondroplasia was admitted to our clinic with complaints of bronchopneumonia. He also had immune deficiency characterized by low CD3, CD4 T-lymphocyte subsets and a low level of serum immunoglobulin A (IgA). The diagnosis of hypochondroplasia was made on clinical, radiological, and laboratory findings by the pediatric endocrinology department. The focus of our study is hypochondroplasia associated with immune deficiency which was unpublished in English medical literature previously.

Contribution of KIR (killer immunoglobulin-like receptor) genes, HLA class I ligands, and KIR/HLA class I ligand combinations on the genetic predisposition to celiac disease and coexisting celiac disease and type 1 diabetes mellitus

BACKGROUND AND AIM: There are some common genetic features between celiac disease (CD) and diabetes mellitus type 1 (DM). However, the genetic risk factors have not been fully clarified for CD and the co-occurrence of CD and DM. KIR (killer immunoglobulin-like receptor) genes regulate the cytolitic activity of NK-cells and T lymphocytes. The aim of this study is to evaluate the contribution of KIR genes, KIR ligands, and combinations of KIR/ KIR ligands on the genetic predisposition to CD and co-occurrence of CD and DM. MATERIAL AND METHODS: Forty six patients with CD (n = 46), 20 patients with CD+DM (n = 20), and 60 healthy controls (n = 60) were included in this study. KIR genes and KIR ligands were investigated with PCR-SSOP and PCR-SSP in all subjects, respectively. RESULTS: This study showed that while the telomeric KIR genes (2DS5 and 3DS1), and combinations of 3DS1+HLA-BBw4-Thrand 3DS1+HLA-BBw4-Iso- (p < 0.001, p < 0.001, p < 0.001, and p < 0.001, respectively) were observed more frequently in patients with CD than in controls, the 2DS5, 3DS1 KIR genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- (p = 0.002, p = 0.004, p = 0.036, p < 0.001, and p = 0.007, respectively) were observed more frequently in patients with CD+DM than in controls. CONCLUSIONS: The results of this study indicated that some KIR genes, KIR ligands, and KIR/KIR ligand interactions may be responsible for a predisposition to CD and the coexistence of CD and DM. For development of coexisting CD and DM, the 2DS5 and 3DS1 genes, C1 ligand, and combinations of 3DS1+HLA-BBw4- Thr- and 3DS1+HLA-BBw4-Iso- were found to be risk factors

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Primary subacute Salmonella osteomyelitis of the navicular bone in a child with normal immunity.

Primary subacute haematogenous osteomyelitis is one of the causes of limp. It usually involves tubular bones. Flat and small bones are affected less commonly. Diagnosis is difficult and usually takes weeks together for completion. Salmonella spp. can be isolated as a cause of primary subacute haematogenous osteomyelitis, if a usually underlying disorder, such as sickle cell anemia is associated. In this study, we present a child with normal immunity diagnosed as Salmonella primary subacute haematogenous osteomyelitis of the navicular bone, which is a rare condition. Primary subacute haematogenous osteomyelitis must be considered as a cause of limp for timely diagnosis and treatment.