Thyrotoxic hypokalemic periodic paralysis induced by high-dose insulin in an adolescent male with type 1 diabetes mellitus.

Introduction: Thyrotoxic hypokalemic periodic paralysis (THPP) is a rare but severe complication of hyperthyroidism characterized by acute muscle weakness. This study reports the first case of THPP in an adolescent with type 1 diabetes mellitus (T1DM) and Graves' disease, triggered by high-dose insulin, high carbohydrate intake, and strenuous exercise. It highlights the clinical presentation, management, and implications of THPP in this context.

Investigating Leptin Gene Variants and Methylation Status in Relation to Breastfeeding and Preventing Obesity.

We investigated whether the results of leptin gene (LEP) 2548G/A (rs7799039) and leptin receptor gene (LEPR) 668 A/G (rs1137101) variants, as well as the methylation analysis of CpG regions at nucleotides -31 and -51 of the LEP gene, showed any differences between breastfed and non-breastfed children in this study. The cross-sectional study included 100 children aged 2-5 years who were attending nursery and kindergarten and had been accepted to the Department of General Paediatrics. Infants who were exclusively breastfed for the first six months after birth constituted the study group, and those who were not only breastfeed constituted the control group.

Clinical features, diagnosis and treatment outcomes of Cushing's disease in children: A multicenter study.

Objective: Since Cushing's disease (CD) is less common in the paediatric age group than in adults, data on this subject are relatively limited in children. Herein, we aim to share the clinical, diagnostic and therapeutic features of paediatric CD cases.

Design: National, multicenter and retrospective study.

Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency.

Objective: Recent reports have indicated the role of the prokineticin receptor 2 gene () in the etiology of pituitary hormone deficiencies, suggesting a potential role for the PROK2 pathway in pituitary development, in addition to its role in gonadotropin releasing hormone-expressing neuron development. Here, we present the clinical and molecular findings of four patients with mutations.

Methods: Next-generation targeted sequencing was used to screen 25 genes in 59 unrelated patients with multiple pituitary hormone deficiency (MPHD), isolated growth hormone (GH) deficiency, or idiopathic short stature.

A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High Values at Transition to Adult Care.

IGSF1 deficiency is a rare X-linked condition characterized by central hypothyroidism and a wide variety of other clinical features with variable prevalence, including a delayed pubertal testosterone rise and growth spurt in the context of normal or accelerated testicular growth, and adult macroorchidism with relatively low serum testosterone concentrations. Other features include increased waist circumference, attention deficit, prolactin deficiency and transient partial growth hormone (GH) deficiency in childhood, contrasting with an increased GH secretion in adulthood. Patients with this disorder are not detected shortly after birth if neonatal screening programs are based on thyroid-stimulating hormone (TSH) concentrations.

Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome.

Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey.

Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection.

LRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency.

The biological role of the lipopolysaccharide-responsive beige-like anchor (LRBA) protein associated with the immune system is not to date well known. However, it is thought to regulate the CTLA4 protein, an inhibitory immunoreceptor. Chronic diarrhea, autoimmune disorders, organomegaly, frequent recurrent infections, hypogammaglobulinemia, chronic lung manifestations, and growth retardation are some features of LRBA deficiency.

Quality of Life Evaluation Following Limb Lengthening Surgery in Patients with Achondroplasia.

Background: The primary objective of this study was to evaluate the quality of life following limb lengthening surgery in patients with achondroplasia. The complications and different lengthening techniques have and effects on mid-term results were also investigated.

Methods: We performed a retrospective, multicenter study by evaluating the records of patients with achondroplasia operated in our clinic between 1999 and 2014 for limb lengthening with a minimum follow-up of 3 years.

Superb Microvascular Imaging in the Evaluation of Pediatric Graves Disease and Hashimoto Thyroiditis.

Objectives: We aimed to investigate the differences between spectral Doppler and Superb Microvascular Imaging (SMI; Canon Medical Systems, Tokyo, Japan) findings in children with Hashimoto thyroiditis (HT) and Graves disease (GD) compared to healthy control participants.

Methods: The study included 34 patients with GD, 37 patients with HT, and 22 healthy volunteers. All patients with HT and 11 patients with GD were euthyroid; 23 patients with GD had symptoms of hyperthyroidism and had thyrotropin values of less than 0.

Multi-parametric Ultrasound Evaluation of Pediatric Thyroid Dyshormonogenesis.

The aim of this study was to assess the diagnostic contribution of gray-scale ultrasonography, color Doppler, superb microvascular imaging and shear wave elastography in thyroid dyshormonogenesis (TD). From October 2017 to February 2018, the prospective study included 31 patients (13.6 y; 11-14 y) diagnosed with TD based on thyroid scintigraphy and perchlorate discharge tests and 40 healthy pediatric volunteers (12.

A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations.

Objective: 17α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed puberty. The disease is associated with bi-allelic mutations in the gene located on chromosome 10q24.3.

Potential risk factors for vitamin D levels in medium- and long-term use of antiepileptic drugs in childhood.

Antiepileptic drugs (AED) have potential side effects through vitamin-D. Prevalence of vitamin D insufficiency and potential risk factors for the longitudinal changes of vitamin D levels compared to its baseline levels under AED treatment were investigated in this study. This retrospective study includes patients whose AED therapy were started in only autumn months, between 2000 and 2014.