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Aims/hypothesis: Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic studies of the recessively inherited causes of monogenic diabetes that are likely to be more common in populations with high rates of consanguinity. We aimed to determine the contribution of recessive causes of monogenic diabetes in paediatric diabetes clinics and to identify clinical criteria by which to select individuals for recessive monogenic diabetes testing., Methods: We conducted a cross-sectional study of 1093 children from seven paediatric diabetes clinics across Turkey (a population with high rates of consanguinity). We undertook genetic testing of 50 known dominant and recessive causes of monogenic diabetes for 236 children at low risk of type 1 diabetes. As a comparison, we used monogenic diabetes cases from UK paediatric diabetes clinics (a population with low rates of consanguinity)., Results: Thirty-four children in the Turkish cohort had monogenic diabetes, equating to a minimal prevalence of 3.1%, similar to that in the UK cohort (p = 0.40). Forty-one per cent (14/34) had autosomal recessive causes in contrast to 1.6% (2/122) in the UK monogenic diabetes cohort (p < 0.0001). All conventional criteria for identifying monogenic diabetes (parental diabetes, not requiring insulin treatment, HbA 1c  ≤ 58 mmol/mol [≤7.5%] and a composite clinical probability of MODY >10%) assisted the identification of the dominant (all p ≤ 0.0003) but not recessive cases (all p ≥ 0.2) in Turkey. The presence of certain non-autoimmune extra-pancreatic features greatly assisted the identification of recessive (p < 0.0001, OR 66.9) but not dominant cases., Conclusions/interpretation: Recessively inherited mutations are a common cause of monogenic diabetes in populations with high rates of consanguinity. Present MODY-focused genetic testing strategies do not identify affected individuals. To detect all cases of monogenic paediatric diabetes, it is crucial that recessive genes are included in genetic panels and that children are selected for testing if they have certain non-autoimmune extra-pancreatic features in addition to current criteria., (© 2021. The Author(s).)

Object: The infrachiasmatic corridor is the most important surgical access route for craniopharyngiomas and was identified and used in clinical series. The aims of this study were to describe the characteristics that assist dissection and resection rates in endoscopic surgery of solid, cystic, and recurrent cases and their importance in the infrachiasmatic corridor in endoscopic surgery., Methods: One hundred operations on 84 patients with pathologically identified craniopharyngioma were included in the study. The MRI findings were evaluated, and the location of the lesions was classified as (1) infrasellar; (2) sellar; or (3) suprasellar. In the sagittal plane, we measured the longest diameter of cystic and solid components and the height of chiasm-sella. Images were assessed for the extent of resection and were classified as gross total resection. This was deemed as the absence of residual tumor and subtotal resection, which had residual tumor., Results: The infrasellar location was reported in 7/84 (8.3%) patients, the sellar location in 8/84 (9.5%), and the suprasellar location in 69/84 (82.1%) patients. The narrow and high chiasm-sella were observed in 28/69 (40.5%) and 41/69 patients (59.4%), respectively. The mean distance of the chiasm-sella was 9.46± 3.76. Gross total tumor resection was achieved in 60/84 (71.4%) and subtotal tumor resection was performed in 24/84 (28.6%) patients. The results revealed that suprasellar location (OR: 0.068; p = 0.017) and recurrent cases (OR: 0.011; p<0.001) were negative predictive factors on GTR. Increasing the experience (OR: 42,504; p = 0.001) was a positive predictor factor for GTR., Conclusion: An EETS approach that uses the infrachiasmatic corridor is required for skull base lesions extending into the suprasellar area. The infrachiasmatic corridor can determine the limitations of endoscopic craniopharyngioma surgery. This corridor is a surgical safety zone for inferior approaches., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Austria, part of Springer Nature.)

Purpose: We aimed to compare the body mass index and vitamin and mineral status of children with and without amblyopia., Methods: Amblyopic children aged between 5 and 18 years (n=46) and age-matched control children (n=32) were evaluated in terms of anthropometric parameters, including height, weight, body mass index and demographic features. Serum vitamin B12 and folate were measured using an Advia Centaur XP (Siemens, Ireland) biochemistry analyzer. We evaluated the inorganic mineral elements from hair samples with inductively coupled plasma-mass spectrometry using a Thermo XSeries 2 analyzer (Thermo Fisher Scientific, Bremen, Germany)., Results: No significant difference was found between the two groups in terms of height, weight, and body mass index or serum B12 and folate concentrations (p>0.05). Children with severe amblyopia had lower vitamin B12 and folate and higher body mass index. The levels of phosphorus (p=0.012), selenium (p=0.002), molybdenum (p<0.001), iodine (p=0.002), chromium (p=0.022), boron (p<0.001), and beryllium (p=0.005) were all significantly lower in the amblyopia group compared to the control group. All of these minerals, except phosphorus, were also significantly lower in those with severe amblyopia compared to those with milder amblyopia and controls (p<0.05)., Conclusion: Amblyopic children are significantly deficient in some inorganic elements. Inorganic elements, vitamin B12, and folate may play an important role in the visual development of amblyopic children.

Study Objective: To investigate the characteristics of children with ovarian cysts and evaluate treatment strategies., Design: Retrospective study., Setting: Eight pediatric endocrinology clinics, Turkey., Participants: A total of 100 children and adolescents with ovarian cysts., Interventions: Patient data collected via retrospective chart review. Patients were stratified according to age into 4 groups (newborns, 1-12 months, 1-8 years, and 8-18 years)., Main Outcome Measures: Special emphasis was given to torsion and tumor cases, concomitant diseases, treatment modalities, and problems during follow-up., Results: Most newborns and infants were asymptomatic with the cysts being discovered incidentally; in girls ages 1-8, symptoms were common, including breast budding (47.1%, 16 of 34) and vaginal bleeding (29.4%, 10 of 34). Girls older than 8 years mostly presented with abdominal pain (31.6%, 12 of 38) and menstrual irregularity (21.1%, 8 of 38). Most of our patients were diagnosed with a simple ovarian cyst, but 9 patients were found to have ovarian tumors. Ovarian torsion was detected in 7 patients; 5 with large and 2 with small cysts (<20 mm). Two patients had central precocious puberty (CPP) at presentation and 5 patients developed CPP during follow-up. The surgical intervention rate was high (38%, 38 of 100), but was associated with earlier treatment year, and this association remained significant after adjusting for confounders (P = .035)., Conclusion: Most girls have simple cysts, which have a favorable prognosis without intervention; however, there might be coexisting pathologies or complications such as tumors, torsion, and CPP; hence these patients should be evaluated accordingly and treated with a multidisciplinary approach., (Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Objective: Partial/total urogenital sinus mobilization (UGSM) is one of the recommended techniques for treatment of female congenital adrenal hyperplasia (CAH). In this study we compared the length of common channel (CC) and type of operation performed in CAH patients., Patients and Methods: We retrospectively analyzed data of patients receiving surgery for female CAH. Patients were separated into three groups: group 1 had partial UGSM, group 2 had total UGSM, and group 3 had total UGSM plus the vaginal anterior wall was made from CC. Age at surgery, length of CC, surgical time, follow-up time, and complications were compared., Results: There were a total of 29 patients. For groups 1, 2, and 3, the average age at surgery was 47.2 months, 14.4 months, and 21.3 months, respectively, and the average CC length was 1.25 cm, 3.1 cm, 4.3 cm, respectively. The average time of surgery was 165 min, 193.1 min, 282.5 min, respectively. The average follow-up time was 34.7 months, 36.3 months, 28.3 months, respectively. There were two complications (UGS flap necrosis and opening of sutures) in the third group., Conclusion: We advise the use of partial UGSM for CC of 0.5-2 cm, total UGSM for CC of 2.5-3.5 cm, and total USM with use of CC as the anterior vaginal wall in CC ≥ 4 cm in length. Good cosmetic and functional results are obtained with this approach., (Copyright © 2014 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Aim/background: Vitamin D supplementation during pregnancy is a well-accepted recommendation worldwide; however, the debate about the correct dose is ongoing. We aimed to compare daily doses of 600, 1,200, and 2,000 IU in this randomized, controlled study., Methods: The study group consisted of 91 pregnant women aged 16-42 years admitted to Kocaeli Maternity and Children Hospital between April 2011 and April 2012. The participants were randomly divided into 3 groups. 600, 1,200, and 2,000 IU/day of vitamin D was supplemented to group 1 (control group, n = 31), group 2 (n = 31), and group 3 (n = 32), respectively. Serum calcium, 25-hydroxyvitamin D (25OHD), and the calcium/creatinine ratio in spot urine samples were measured in the follow-up period. The serum calcium and 25OHD levels of the mothers' infants were measured as well., Results: The frequency of vitamin D sufficiency after supplementation was 80% in group 3 and it was significantly higher than in groups 1 (42%) and 2 (39%) (p = 0.03). The frequency of vitamin D sufficiency in the infants of the participants was 91% in group 3 and it was significantly higher than in groups 1 (36%) and 2 (52%) (p = 0.006)., Conclusions: At least 2,000 IU/day of vitamin D is needed to ensure adequate vitamin D status in pregnancy and early infancy., (© 2014 S. Karger AG, Basel.)

Early markers are required in pathophysiological process of obesity, MS and type 2 diabetes. We aimed to clarify the usefulness of serum adipokines (adiponectin, AD and resistin) and inflammatory markers to identify obese and overweight children with MS. Three hundred and seven of 2 491 subjects aged 11-19 with BMI> or =85 centile selected with a multistage, stratified sampling were included. Their height, weight and waist circumference were measured, all subjects underwent physical examination and standard OGTT. AD, resistin and hs-CRP were measured from baseline blood sample. The mean age of subjects was 14.2+/-1.8, 57.7% was girl (n=177) and 42.3% (n=130) boy. Of the 307 subjects 40 (13%) were classified as having MS. Serum AD levels were significantly lower in boys (p=0.02), and decreased while BMI increased, but this trend was not significant (p>0.05). Although median resistin values were higher in obese than others (20, 18.5, 17 ng/ml, respectively) it was not significant (p>0.05). In obese subjects, hs-CRP levels were significantly high (0.21 mg/L) (p=0.000). All three markers in obese and overweight children with and without MS were not significant (p>0.05). Girls with MS had lower adiponectin levels than those without MS. Waist circumference had the highest sensitivity and specificity for predicting MS in ROC analysis. The area under the curve (AUC) was 0.831 for WC standard error (SE) 0.033; 95% CI 0.767-0.896; p<0.0001. But the AUCs for the adiponectin, resistin, hs-CRP were not significant. In this study, we observed that adipokines or inflammatory markers have no predictive value in the diagnosis of MS. We concluded that the best marker for MS diagnosis is the measurement of waist circumference., (Copyright J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart . New York.)

This retrospective study evaluated the clinical and laboratory characteristics at presentation and treatment results of patients with Graves' disease (GD) with respect to pubertal status. Records of 143 patients (108 F, 35 M) were reviewed in a multicenter study. At diagnosis, 38% of patients were prepubertal. Anti-thyroid drugs (ATD) were used as initial therapy. There was no significant difference in clinical and laboratory characteristics at diagnosis, during treatment and adverse reaction to ATD with respect to pubertal status. Twenty patients (7 prepubertal, 13 pubertal) reached remission on ATD. Surgery was performed in seven and radioiodine (RAI) in four patients. Duration of treatment needed to achieve remission was longer in prepubertal (4.2 +/- 1.0 yr) than in pubertal patients (3.1 +/- 1.3 yr) (p = 0.02). The rate of remission was not different between prepubertal (25.9%) and pubertal patients (33.3%) (p = 0.59). ATD were associated with low remission rate in pediatric GD and required longer duration of therapy in prepubertal patients. For definitive treatment in older children, RAI could be evaluated as the initial therapy.

Background: Parental height data are essential in the assessment of linear growth in children. A number of studies have documented inaccuracy in self-reported adult height., Aims: To determine whether there is a tendency for men to overestimate and women to underestimate their height., Methods: Heights of parents of children attending outpatient clinics were measured (MHt) and compared with reported heights (RHt)., Results: Two hundred parents (100 males; 100 females), mean (range) age 37.8 (20.8-69.3) years, were measured. Males overestimated height, with mean (SD) RHt-MHt 1.09 (1.96) cm, while females reported height relatively accurately, with RHt-MHt -0.09 (2.37) cm., Conclusions: The hypothesis that males overestimate height is confirmed. While the hypothesis that women underestimate is not supported, we recommend accurate measurement of both parents, given the considerable degree of individual variation in RHt-MHt for both sexes.

We analyzed the characteristics of young infants diagnosed with vitamin D deficiency in early infancy at 2 medical centers in Turkey. In this retrospective, cross-sectional study, the clinical, biochemical, and radiographic findings of infants who were diagnosed with vitamin D deficiency at <3 mo of age between May 2001 and May 2003 were reviewed. A total of 42 infants (27 boys and 15 girls) were diagnosed with vitamin D deficiency in the first 3 mo of life during this 2-y period. The age of infants at diagnosis was 60 +/- 19 d (range 32-112 d). The majority (78.7%) presented with seizures. No skeletal deformities were detected clinically, and radiological findings were subtle. All infants had low serum calcium levels but serum phosphorous levels varied. Eight infants (19.0%) had low, 19 (45.3%) had normal, and 15 (35.7%) had elevated serum phosphorous levels. Serum 25-hydroxyvitamin D levels in those measured (29 infants and 15 mothers) were <37.5 nmol/L. Most infants (83%) were exclusively breast-fed without supplemental vitamin D, and none of the mothers were supplemented with vitamin D during pregnancy. All mothers had limited sunlight exposure and 33 of 42 mothers (78.6%) wore concealing clothing. The majority of young infants diagnosed with vitamin D deficiency present with seizures, have low dietary vitamin D intake, and mothers with poor vitamin D reserves. Evaluation of vitamin D status should be included into the workup of hypocalcemia in early infancy. Prevention of deficiency by supplementing pregnant women and infants who are exclusively breast-fed is essential.

Vitamin D deficiency continues to be a worldwide problem, especially in developing countries. The aim of this study was to investigate potential risk factors for vitamin D deficiency. Girls (n = 89) aged 13 to 17 y were enrolled in the study. Study subjects were stratified into 3 groups: Group I included girls living in a suburban area; Group II girls lived in an urban area, and Group III girls lived in an urban area and wore concealing clothes for religious reasons. At the end of winter (in April) serum 25-hydroxyvitamin D [25(OH)D] levels were measured and dietary data were collected using questionnaires. Vitamin D deficiency was defined as a serum 25(OH)D concentration < 25 nmol/L, and insufficiency as a 25(OH)D concentration between 25 and 50 nmol/L. The lumbar and femur neck bone mineral densities (BMD) were measured using dual X-ray absorptiometry (DEXA). Overall, 39 girls (43.8%) had vitamin D insufficiency and 19 (21.3%) had vitamin D deficiency. In group III (wearing covered dress) the serum 25(OH)D concentrations (28.13 +/- 12.53 nmol/L) were significantly lower than in the other 2 groups, and within this group, 50% of girls were vitamin D deficient. The lumbar and femur neck BMD of girls with lower 25(OH)D levels did not differ from those with adequate vitamin D levels. We conclude that vitamin D deficiency is an important problem in Turkish adolescent girls, especially in those who follow a religious dress code; therefore, vitamin D supplementation appears to be necessary for adolescent girls.