Pelin Bilir

Vitamin D Deficiency in Turkish Mothers and Their Neonates and in Women of Reproductive Age

Objective: Materno-fetal vitamin D deficiency (VDD) may occur in the early neonatal period. We aimed to evaluate the vitamin D (vitD) status and risk factors for VDD in healthy newborns and their mothers, and also in fertile women. Methods: Serum 25 hydroxyvitamin D3 (25(OH)D), calcium (Ca), phosphorus (P) and alkaline phosphatase (ALP) levels were measured in 70 mothers (study group) and their newborns, and in umbilical cord samples. 104 nonpregnant fertile women comprised the control group. Demographic factors such as education and clothing habits of the mother, number of pregnancies and month of delivery were recorded. A serum 25(OH)D level below 11 ng/ml was accepted as severe, 11-25 ng/ml as moderate VDD, and a value over 25ng/ml as normal. Results: Severe VDD was found in 27% of the mothers, and moderate deficiency in 54.3%. Severe VDD was detected in 64.3% of the neonates, and moderate deficiency in 32.9%. Only 18.6% of the mothers and 2.9 % of the neonates had normal vitD levels. In thecontrol group, severe VDD was observed in 26.9%, and moderatedeficiency in 45.2 %. Only 27.8 % of the controls had normal vitD levels. In the control group, the 25(OH)D levels of the women dressed in modern clothes were significantly higher than those of the women wearing traditional clothes. This difference was not observed in the study group because 75% of these 70 mothers wore modern clothes. Mothers giving birth during the summer months and their neonates had significantly higher serum 25(OH)D levels than those of the mothers giving birth during the winter months and their neonates. Conclusion: The study has shown that in Turkey VDD is an important problem in women of reproductive age, in mothers and their neonates. The 25(OH)D levels obtained from the cord may serve as a guide in the determination of the high risk groups. Conflict of interest:None declared.

Intrathyroidal Ectopic Thymus in Children Retrospective Analysis of Grayscale and Doppler Sonographic Features

The purpose of this study was to define grayscale and color Doppler sonographic features of an ectopic intrathyroidal thymus and to differentiate it from other thyroid nodule etiologies.

Disorders of sexual development: an overview of 18 years experience in the pediatric Endocrinology Department of Ankara University.

ABSTRACT Introduction: Disorders of sexual development (DSD) occur when the appearance of the internal and/or external genitalia is at variance with normal development for either sex. We reviewed the characteristics of patients with DSD. Patients: Two hundred and eight children aged from newborn to 19 years with DSD from 1990 to 2008. Results: 46,XY DSD (52.4%) was more common than 46,XX DSD (34.6%) and gonadal differentiation disorders (12.99%). Thirty-six (33.02%) patients were diagnosed with androgen resistance syndrome, 41 (37.61%) had 5α-reductase deficiency, 23 (21.10%) had testosterone synthesis disorders. Congenital adrenal hyperplasia was the most frequent underlying cause of 46,XX DSD. Conclusion: There are many difficult aspects in the diagnosis and management of DSD. Gender assessment teams of endocrine centers need a multidisciplinary approach for the diagnosis, medical and surgical treatment, genetic counseling, and psychosocial support of these patients.

Tuberculous Meningitis Associated with Diabetic Ketoacidosis

Diabetic ketoacidosis (DKA) is a life-threatening acute complication of type 1 diabetes mellitus. Infections are the leading cause of DKA, but trauma, myocardial infarction, or surgery may also precipitate this condition. In patients with DKA, although cerebral edema is the most common cause of neurological symptoms, other possibilities such as meningitis or encephalitis should also be considered. Herein, we present the case of an 8-year-old girl with DKA and tuberculous meningitis. Conflict of interest:None declared.

Evaluation of Thyroid Functions with Respect to Iodine Status and TRH Test in Chronic Autoimmune Thyroiditis

Objective: Chronic autoimmune thyroiditis (CAT) is the most common form of thyroiditis in childhood and a frequent cause of acquired hypothyroidism. The objective of this study was to evaluate the thyroid status of childrenand adolescents with CAT with respect to iodine status and diagnostic values of thyrotropin-releasing hormone (TRH) test. Methods: Seventy-one children (mean age: 11.6 years) were studied in a retrospective analysis. Free thyroxine (T4), thyrotropin (TSH), TSH response to TRH test, thyroid autoantibodies, thyroid sonography, and urinary iodine excretion (UIE) were evaluated. Results: At diagnosis, 8.5% of patients had overt hypothyroidisim and 36.6% subclinical hypothyroidism; 5.6% had overt hyperthyroidisim and 8.5% had subclinical hyperthyroidism. Of them, 40.8% were euthyroid. Median UIE was 51 mg/L in overt hypothyroidism and 84 mg/L in subclinical hypothyroidism. The values were 316 mg/L and 221 mg/L in overt and subclinical hyperthyroidism, respectively. Basal TSH showed a strong correlation with peak TSH level on TRH test. Thirty-four percent of patients with normal basal TSH level showed an exaggerated TSH response. Conclusion: Iodine deficiency was seen more in cases with hypothyroidism, while excess of iodine was observed to be more frequent in hyperthyroid patients. Iodine status was a strong predictorof the thyroid status in CAT. TRH test may be helpful in further delineating patients with subclinical hypothyroidism. Conflict of interest:None declared.

Efficiency of Fluid Treatments with Different Sodium Concentration in Children with Type 1 Diabetic Ketoacidosis

Objective: The management of children with diabetic ketoacidosis (DKA) continues to be a controversial issue with regard to amount of intravenous fluid to be given, rate of delivery of fluid, and type of fluid to be used. We aimed to analyze the results obtained by administration of rehydration fluids of two different sodium (Na) concentrations (75 mEq/L vs. 100 mEq/L ) in the treatment of children with DKA. Methods: Thirty-two children with DKA were assessed for efficacy and safety of fluid treatment. After an initial rehydration time, intravenous fluids were switched to a 5% dextrose solution with a Na content of 75 mEq/L (Group I, n=19) or 100 mEq/L (Group II, n=13). Venous blood samples were collected from all subjects at diagnosis and at the 4th, 8th, 16th and 24th hours of treatment. Results: Changes in blood glucose levels did not differ significantly between the two groups at the 4th, 8th, 16th and 24th hours of the follow-up. Nadir effective plasma osmolality (Peff osm) and Peff osm levels also did not show statistically significant differences. Plasma sodium (PNa) level did not drop lower than the level at diagnosis in both groups. The changes in PNa concentrations in the two groups were not statistically significant at diagnosis or in follow-up samples (p=0.74). pH, anion gap, pCO2 and HCO3 levels were also similar in Group I and Group II. The duration of a pH level of <7.3 was shorter in Group II, but this was not statistically significant (p=0.65). None of the patients enrolled in this study developed cerebral edema. Conclusion: The efficacy and safety of rehydration fluids with Na concentrations of 75 or 100 mEq/L did not reveal any differences in children with DKA. Conflict of interest:None declared.

Case report: two patients with partial DiGeorge syndrome presenting with attention disorder and learning difficulties.

DiGeorge syndrome (DGS) has classically been characterized by the triad of clinical features including congenital cardiac defects, immune deficiencies secondary to aplasia or hypoplasia of the thymus, and hypocalcaemia due to small or absent parathyroid glands. The phenotypic features of these patients are much more variable and extensive than previously ecognized. The acknowledgement of similarities and phenotypic overlap of DGS with other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of DGS including palatal/speech abnormalities, as well as cognitive, neurological and psychiatric disorders. Here, we report the cases of two DGS patients with dysmorphic facial features who were initially admitted to the Psychiatry Department for attention disorder and learning difficulties. Conflict of interest:None declared.

Early prophylactic thyroidectomy for RET mutation-positive MEN 2B.

Polyarthritis of JIA is diagnosed by clinical inflammatory findings at five or more joints within the first 6 months from onset of disease. The present patient initially had clinically apparent arthritis only at three joints without systemic disease or enthesitis, and was suspected of having oligoarthritis-onset JIA. The laboratory findings demonstrated extremely high levels of serum MMP-3 and HA and elevated ESR. Extremely high levels of serum MMP-3 indicated multi-joint involvement. As well, the levels of serum HA in patients with systemic arthritis or polyarthritis was significantly higher than those in patients with oligoarthritis. An elevated ESR was a predictor of disease extension and a destructive course. These facts suggested that the present patient had polyarthritis of JIA although, initially, clinical arthritis was seen in only three joints. This was supported by Ga scintigraphy, which is an established method for the detection of arthritis. Significant accumulation of Ga was detected along with whole articular surface in all of the present patient’s ankle, knee and shoulder joint regions, which was clearly different from the linear accumulation of Ga into epiphysis during the growing period in healthy children. Conclusively, ultrasound (US) is noninvasive, but has lower sensitivity and specificity for synovitis. MRI has higher sensitivity and specificity for synovitis, but is expensive for systemic scanning. Ga scintigraphy is very suitable for systemic scanning of synovitis, regardless of exposure to radiation. Gd-MRI confirmed synovitis of the multiple joints, indicating polyarthritis. Based on these laboratory and radiological findings, the patient was considered to be in an early stage of polyarthritis of JIA and was treated with PSL in addition to MTX and nonsteroidal anti-inflammatory drug (NSAID). Finally, polyarthritis needs early intervention because of its poor prognosis for the joints. Nevertheless, the diagnostic criteria require persistence of arthritis for >6 weeks, which often makes early diagnosis difficult. Ga scintigraphy is useful for the detection of early stage arthritis and is recommended particularly for such subclinical patients with high levels of hematological markers for arthritis.

Treatment of autonomous ovarian follicular cyst with long-term anastrozole therapy

Functional follicular ovarian cysts are frequently reported in girls with peripheral precocious puberty (PP). These cysts are usually self-limiting and resolve spontaneously. Several drugs like antiestrogens (tamoxifen) and new aromatase inhibitors are seldom used for treatment. Here we report a girl with peripheral PP who presented with unilateral enlargement of the ovary and a recurrent autonomous ovarian cyst. No skin pigmentation or bone anomaly was noted. The patient was successfully treated with anastrozole, a highly selective aromatase inhibitor. No adverse reaction was noted. Anastrozole is a safe and tolerable drug especially used to suppress estrogen action.

Combined evaluation of IGF-1 and IGFBP-3 as an index of efficacy and safety in growth hormone treated patients.

Objective: Measurement of serum insulin−like growth factor−1 (IGF−1) and IGF binding protein−3 (IGFBP−3) levels has been recommended as a useful index for monitoring of growth hormone (GH) therapy in GH deficient children. In this study we aimed to evaluate IGF−1/IGFBP−3 molar ratio during GH treatment as an index of safety and efficacy. Methods: Serum IGF−1 and IGFBP−3 levels and molar ratio of IGF−1/IGFBP−3 were evaluated in 50 GH deficienct children, during 3 years of GH therapy and these parameters were compared with the growth response. Results: All patients completed the first year, 38 the second year and 26 the third year of therapy. Although 15 patients in the first year, 5 patients in the second year, and 5 patients in the third year had high IGF−1 SDS values, height increments were similar in the low IGF−1 group and in the normal or high IGF−1 level groups. Molar ratios were also not statistically different between the groups. Molar ratio of IGF−1/IGFBP−3 seemed to be more reliable in evaluating the efficacy than basal IGF−1 level. Conclusions: Evaluation of the molar ratio of IGF−1/IGFBP−3 may be recommended as a tool to monitor GH treatment and it may be possible to individualize GH treatment accordingly. Conflict of interest:None declared.