The cause of severe hypercalcaemia resistant to pamidronate treatment: subcutaneous fat necrosis with no visible skin lesion.

Subcutaneous fat necrosis (SCFN) is an uncommon cause of neonatal hypercalcaemia. It is usually seen in neonates after a complicated delivery within the first month of life. While uncommon, hypercalcaemia can be fatal.

Cushing syndrome induced by long term use of corticosteroids in the management of atopic dermatitis.

Corticosteroid-containing creams, pomades and ointments are frequently prescribed for the treatment of atopic dermatitis by allergologists and immunologists, dermatologists and many other physicians. This case is about a 1-month old infant who acquired iatrogenic Cushing syndrome after being applied diflucortolone valerate, a strong corticosteroid, ointment 3 to 4 times a day over the course of 4 months after being prescribed by a primary care physician.

Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome.

Baştuğ F, Nalçacıoğlu H, Baş VN, Tekatlı-Çelik B, Çetinkaya H, Yel S. Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome. Turk J Pediatr 2018; 60: 210-215.

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.

Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the thyroid peroxidase-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic congenital hypothyroidism (CH) that may be phenotypically heterogeneous, leading to the hypothesis that CH severity may be influenced by environmental factors (e.g.

Clinical Toxicity of Acute Overdoses With L-Thyroxin in Children.

Objectives: L-Thyroxine ingestion is rarely seen in children; here, we report our experience of it. This study describes the clinical characteristics and laboratory findings of acute L-thyroxine ingestion in children.

Methods: This retrospective study enrolled patients treated for L-thyroxine ingestion at Kayseri Teaching Hospital between September 2013 and September 2016.

Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism.

Background: Impaired heart functions in newborns with hypothyroidism should be reversed by levothyroxine substitution therapy. The aim of the study was to investigate heart functions with congenital hypothroidism (CH) in newborns and changes after levothyroxine substitution therapy, measured with tissue Doppler echocardiography and conventional echocardiography.

Methods: The study included 30 neonates with CH and 34 healthy controls.

Bone mineral density and bone metabolic markers' status in children with neurofibromatosis type 1.

Background: Neurofibromatosis type 1 (NF1) is a multisystem disorder characterized by progressive manifestations, which is inherited in an autosomal dominant manner. The majority of patients with NF1 experience a diffuse, significant reduction in bone mass over time, with osteoporosis, osteopenia in the absence of severe scoliosis, or gross bone deformities. This study aimed to determine the bone mineral density (BMD) status, evaluate bone metabolism, and to determine the relevant factors in children with NF1.

Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.

Context: Recently several patients with resistance to thyroid hormone (RTH)-α due to T3 receptor-α (TRα) mutations were identified. The phenotype of these patients consists of varying degrees of growth impairment, delayed bone, mental and motor development, constipation, macrocephaly, and near-normal thyroid function tests.

Objective: The objective of the study was to describe the clinical phenotype of three new families with RTHα and thereby gain more detailed knowledge on this novel syndrome.

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study.

Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing.

Background: Maturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseasesand is often misdiagnosed as type 1 or type 2 diabetes. The aim of this study is to investigate both novel and proven mutations of 11 MODY genes in Turkish children by using targeted next generation sequencing.

Methods: A panel of 11 MODY genes were screened in 43 children with MODY diagnosed by clinical criterias.

Evaluating the Efficacy of Treatment with a GnRH Analogue in Patients with Central Precocious Puberty.

Objective. GnRH analogues (GnRHa) are used in the treatment of central precocious puberty (CPP). The purpose of this study was to evaluate the efficacy of treatment with a GnRHa (leuprolide acetate) in patients with CPP.

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities, genital abnormalities and learning difficulties. To date, mutations in 21 different genes have been described as being responsible for BBS. Recently sequential gene sequencing has been replaced by next generation sequencing (NGS) applications.

Hypopituitarism and Legg-Calve-Perthes disease related to difficult delivery.

Legg-Calve-Perthes (LCP) disease is characterized by idiopathic avascular osteonecrosis of the epiphysis of the femur head. The main factor that plays a role in the etiology of the disease is decreased blood flow to the epiphysis. Many predisposing factors have been suggested in the etiology of LCP disease, and most have varying degrees of effects.

Investigation of autoimmune diseases accompanying Hashimoto's thyroiditis in children and adolescents and evaluation of cardiac signs.

Objective: In the present study, it was aimed to investigate the concomitance of additional cardiac problems, mainly mitral valve prolapse, in adolescents and pediatric patients with Hashimoto's thyroiditis, by screening autoimmune markers.

Materials And Methods: Fifty-seven euthyroid patients, who applied to the Pediatric Endocrinology clinic at our institution with marked symptoms of hypothyroidism at the time of diagnosis, and were diagnosed and treated for Hashimoto's thyroiditis, were included in the present study. All patients were evaluated by performing non-organ specific autoantibodies which could be tested at our institution, thyroid ultrasonography, two-dimensional echocardiography, and 24-h holter monitorization.

Effects of GnRH analogue treatment on anterior pituitary hormones in children with central precocious puberty.

Introduction And Purpose: This study aims to investigate the effect of Gonadotropin-releasing hormone analogues (GnRHa) treatment on anterior pituitary hormones in female children with central precocious puberty (CPP).

Subjects And Method: There were 62 female children who had been diagnosed with CPP and received GnRHa (Leuprolide acetate, 3.75 mg intramuscular/subcutaneous/28 days) included in the study.

Turner syndrome and associated problems in Turkish children: a multicenter study.

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.

Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.

Effect of obesity on left ventricular longitudinal myocardial strain by speckle tracking echocardiography in children and adolescents.

Background: Impaired subclinical ventricular function may contribute to the risk of cardiovascular disease in obesity.

Aims: The aim of this study was to determine the influence of obesity on left ventricular (LV) longitudinal myocardial function in normotensive obese children using two-dimensional (2D) speckle tracking echocardiography (STE).

Study Design: Case-control study.

Diabetic euglycemic ketoacidosis in newly diagnosed type 1 diabetes mellitus during Ramadan fasting.

Real euglycemic diabetic ketoacidosis [DKA; blood glucose <200 mg/dL (11.1 mmol/L)] is rare, and long-lasting starvation conditions due to intervening diseases in type 1 diabetes mellitus patients may also cause it. Euglycemic DKA is also reported in insulin-dependent diabetics with depression, alcoholics, glycogen storage diseases, and chronic liver disease apart from pregnant cases.

An uncommon cause of hypoglycemia: insulin autoimmune syndrome.

Background: Insulin autoimmune syndrome (IAS) is a condition characterized by hypoglycemia associated with the presence of autoantibodies to insulin in patients who have not been injected with insulin.

Case Report: A female patient (aged 16 years and 3 months) presented with the complaint of being overweight. Physical examination revealed a body weight of 78.

A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects.

Congenital hypothyroidism (CH), one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns. CH is most often caused by defects in thyroid development leading to thyroid dysgenesis. The thyroid-stimulating hormone receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with CH.

Prader-Willi syndrome and growth hormone deficiency.

Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder demonstrating great variability with changing clinical features during patient's life. It is characterized by severe hypotonia with poor sucking and feeding difficulties in early infancy, followed by excessive eating and gradual development of morbid obesity in later infancy or early childhood. The phenotype is most probably due to hypothalamic dysfunction which is also responsible for growth hormone (GH) and thyroid-stimulating hormone (TSH) deficiencies, central adrenal insufficiency and hypogonadism.

Evaluation of asymmetric dimethylarginine (ADMA) levels in children with growth hormone deficiency.

Objective: To investigate serum asymmetric dimethylarginine (ADMA) levels in children with isolated growth hormone deficiency (GHD) and to determine the effect of GH replacement therapy on these levels.

Methods: 31 patients diagnosed with isolated GHD and 29 age-and sex-matched healthy children were enrolled in the study. Height, weight and waist circumference were measured in all subjects.

Corneal biomechanical characteristics in children with diabetes mellitus.

To compare the corneal biomechanical properties in children with type 1 diabetes mellitus (DM) and healthy children. In this cross-sectional study, the study and control groups were composed of 68 children with DM and 74 healthy children, respectively. 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).