Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route.

Background Hereditary vitamin D-resistant rickets (HVDRR) is caused by vitamin D receptor (VDR) defects. Patients with HVDRR do not respond to standard doses of calcitriol and oral calcium (Ca) treatment and need to be treated with intravenous Ca (IV-Ca) via a central route. However, central catheter-related complications can cause significant morbidity.

Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey.

Objective: To assess the incidence of type 1 diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015.

Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9, 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated.

Novel and recurrent and mutations in the Marshall-Stickler syndrome spectrum.

Marshall-Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the , , , , and genes. In this study, we examined four Turkish families with Marshall-Stickler syndrome using whole-exome sequencing and identified one mutation and three mutations.

Evaluation and Treatment Results of Ovarian Cysts in Childhood and Adolescence: A Multicenter, Retrospective Study of 100 Patients.

Study Objective: To investigate the characteristics of children with ovarian cysts and evaluate treatment strategies.

Design: Retrospective study.

Setting: Eight pediatric endocrinology clinics, Turkey.

Usefulness of soluble urokinase plasminogen activator receptor (suPAR) as an inflammatory biomarker in obese children.

Objective: Soluble urokinase plasminogen activator receptor (suPAR) has emerged as a relatively new biomarker that reflects increased inflammatory status and been associated with cardiovascular risk. We wanted to investigate the predictive value and usefulness of suPAR as an inflammatory biomarker in obese children.

Methods And Results: Of the total 136 participants, 76 (36 male, 40 female) were in obese group and 60 (24 male, 36 female) were in control group.

The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study.

Objective: Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS patients in Turkey and their growth response to GH treatment.

Educational Needs of Adolescents Regarding Normal Puberty and Menstrual Patterns.

Objective: The study aimed to determine the level of knowledge and the sources of information about normal puberty and menstrual patterns in Turkish schoolgirls from İstanbul.

Methods: The study sample was comprised of 922 randomly chosen schoolgirls. A questionnaire survey of knowledge of normal pubertal development and menstrual patterns was conducted.

Effects of Thyroid Autoimmunity on Early Atherosclerosis in Euthyroid Girls with Hashimoto's Thyroiditis.

Objective: In the current study, we aimed to investigate whether thyroid autoimmunity (TA) had any effect on carotid intima-media thickness (cIMT) and enhanced the risk of cardiovascular disease (CVD) independent of thyroid function (TF) in pubertal girls with Hashimoto's thyroiditis (HT).

Methods: Sixty-six newly diagnosed euthyroid girls with HT with a mean age of 14.4±2.

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

DNA double-strand breaks (DSBs) are highly toxic lesions, which, if not properly repaired, can give rise to genomic instability. Non-homologous end-joining (NHEJ), a well-orchestrated, multistep process involving numerous proteins essential for cell viability, represents one major pathway to repair DSBs in mammalian cells, and mutations in different NHEJ components have been described in microcephalic syndromes associated, e.g.

Urinary tract infections in children with myelodysplasia in whom clean intermittent catheterization was administered.

Aim: In this study, it was aimed to evaluate the frequency of significant bacteriuria and antibiotic resistance characteristics in children with myelodysplasia in whom clean intermittent catheterization was administered.

Material And Methods: The study group was composed of 71 patients with myelodysplasia who were found to have significant bacteriuria (age: 8.20±4.

PAPSS2 mutations cause autosomal recessive brachyolmia.

Background: Brachyolmia is a heterogeneous group of skeletal dysplasias that primarily affects the spine. Clinical and genetic heterogeneity have been reported; at least three types of brachyolmia are known. TRPV4 mutations have been identified in an autosomal dominant form of brachyolmia; however, disease genes for autosomal recessive (AR) forms remain totally unknown.

Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy.

Objectives: We aimed to investigate the reliability of thyroid ultrasonography (US) and scintigraphy in determining the type of thyroid dysgenesis (TD).

Methods: The study included 82 children (8.0±5.

Complementary and alternative medicine in children with type 1 diabetes mellitus.

Objective: Complementary and alternative medicine (CAM) is increasingly utilized in adults and children for treatment of various conditions. Studies on CAM in diabetes have mainly focused on the adult population and its application in children has not been well established. The aim of this study was to examine the prevalence and characteristics of CAM use in Turkish children with type 1 diabetes mellitus (T1DM).

Insulin detemir improves glycemic control and reduces hypoglycemia in children with type 1 diabetes: findings from the Turkish cohort of the PREDICTIVE observational study.

Background: Insulin detemir is a basal insulin analog designed to produce a superior pharmacokinetic profile to basal formulations of human insulin. It has shown consistently improved tolerability in comparison to neutral protamine Hagedorn (NPH) insulin in adult cohorts, but there are relatively few publications involving pediatric cohorts.

Methods: The efficacy and safety of insulin detemir in children with type 1 diabetes was assessed using data from the Turkish cohort of PREDICTIVE (a large, multinational, observational) study.

Adult height in Turkish patients with Turner syndrome without growth hormone treatment.

Spontaneous adult height (AH) in Turner syndrome (TS) varies among populations. Population-specific AH data is essential to assess the efficacy of growth-promoting therapies in TS. A multicenter study was performed to establish AH of nongrowth hormone (GH)-treated Turkish patients with TS.

The role of leptin, soluble leptin receptor, resistin, and insulin secretory dynamics in the pathogenesis of hypothalamic obesity in children.

Introduction: In this study, we have investigated the role of leptin, soluble leptin receptor(sOb-R), resistin, and insulin secretory dynamics in the development of hypothalamic obesity.

Materials And Methods: Children who had hypothalamo-pituitary tumor were divided into two groups. First group included obese-overweight (hypothalamic obese = HOB group, n = 23) and second group included non-obese children (hypothalamic non-obese = HNOB group, n = 16).

Screening of parents and siblings of patients with thyroid dysgenesis by thyroid function tests and ultrasound.

Aims: To investigate the frequency of thyroid dysgenesis (TD) in first-degree relatives of TD cases.

Methods: 244 first-degree relatives of 82 TD cases were screened by thyroid ultrasound (USG), T(4), fT(4) and TSH. USG was also performed in 220 unrelated, age- and sex-matched healthy controls to obtain normative data for thyroid volumes.

Atrial and ventricular arryhthmogenic potential in Turner Syndrome.

Background: P-wave dispersion (Pd), corrected P-wave dispersion (Pdc), QT-wave dispersion (QTd), and corrected QT-wave dispersion (QTdc) parameters were not assessed in Turner Syndrome (TS) before. The aim of this study is to investigate the cardiac arrhythmogenic potential in patients with TS.

Methods: Thirty-one patients with TS and 30 healthy women were enrolled in the study.

Evaluation of diagnosis and treatment results in children with Graves' disease with emphasis on the pubertal status of patients.

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.

Evaluation of permanent growth hormone deficiency (GHD) in young adults with childhood onset GHD: a multicenter study.

Background: Reconfirming the diagnosis of childhood onset growth hormone deficiency (GHD) in young adults is necessary to demonstrate the need for continuation of GH therapy.

Objective: This nationally-based study was planned to establish GH status during adulthood in childhood-onset GH deficient patients and to evaluate factors that would predict persistency of the GHD.

Methods: In this multicenter study, 70 GH deficient patients who had reached final height were evaluated after completion of GH treatment.

Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism.

Growth hormone (GH) is involved in growth, and fat and carbohydrate metabolism. Interaction of GH with the GH receptor (GHR) is necessary for systemic and local production of insulin-like growth factor-I (IGF-I) which mediates GH actions. Mutations in the GHR cause severe postnatal growth failure; the disorder is an autosomal recessive genetic disease resulting in GH insensitivity, called Laron syndrome.

Bioelectrical impedance analysis of body fatness in childhood congenital adrenal hyperplasia and its metabolic correlates.

There is a tendency to adiposity in patients with congenital adrenal hyperplasia (CAH) despite physiological corticosteroid doses. This study investigated body fatness in children with CAH under corticosteroid replacement therapy. Seventeen children with CAH (female:male, 9:8; age range 1.

Serum levels of ghrelin, leptin, IGF-I, IGFBP-3, insulin, thyroid hormones and cortisol in prepubertal children with iron deficiency.

The aim of the present study is to investigate possible alterations in ghrelin and other hormone levels related to appetite and somatic growth in children with iron deficiency anemia. Twenty-five patients and 25 healthy controls that were prepubertal and within normal limits regarding height and BMI standard deviation scores were recruited. Ghrelin, leptin, IGF-I, IGFBP-3, insulin, thyroid hormones and cortisol levels were studied.

Evaluation of glucose intolerance in adolescents relative to adults with type 2 diabetes mellitus.

Aim: There is an increasing trend in the prevalence of type 2 diabetes mellitus (DM2) in childhood and adolescence, while positive family history of DM2 and obesity are the most important risk factors. To study the influence of family history and obesity on glucose intolerance in our country was the aim of this study.

Study Design And Methods: A total of 105 children and adolescents aged 10-18 years (mean 13.

True hermaphroditism with characteristics of Klinefelter's syndrome: a rare presentation.

True hermaphroditism, a very rare cause of intersex, is usually diagnosed during the newborn period in the course of evaluating ambiguous genitalia. As an exception we report an unusual case of a 14.5 year-old boy with phenotypically near-normal male genitalia and bilaterally descended gonads, who was seen for evaluation of gynecomastia and hematuria.