Busra Gurpinar Tosun

Publications

• Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency
• Evaluation of thyroid function and metabolic parameters in obese and overweight children: A prospective case-control study.
• Nationwide Turkish Cohort Study of Hypophosphatemic Rickets
• Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor
• Treatment of congenital adrenal hyperplasia in children aged 0–3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure
• Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume
• Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations
• A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy
• Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants
• Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases
• Congenital adrenal hyperplasia and hypertension
• Prenatal diagnosis and treatment in congenital adrenal hyperplasia
• Approaching a Newborn with Atypical Genitalia: Hints for Pediatricians
• Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty
• mTOR-Activating mutations in RRAGD are causative for kidney tubulopathy and cardiomyopathy
• Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls
• A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B
• Introduction
• Efficacy of the Novel Degludec/Aspart Insulin Co-formulation in Children and Adolescents with Type 1 Diabetes: A Real-life Experience with One Year of IDegAsp Therapy in Poorly Controlled and Non-compliant Patients
• Pubertal And Gonadal Outcomes In 46,XY Individuals With Partial Androgen Insensitivity Syndrome Raised As Girls
• Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency
• Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature
• A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age
• Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features
• Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study
• Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics
• Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children with Congenital Adrenal Hyperplasia
• Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study
• Erratum to: Neonatal screening for congenital adrenal hyperplasia in turkey: Outcomes of extended pilot study in 241,083 infants. (j clin res pediatr endocrinol 2020;12:287-294. 10.4274/jcrpe.galenos.2020.2019.0182)
• Decline in the Age of Menarche in Istanbul Schoolgirls Over the Last 12 Years
• Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment
• Gonadectomy in conditions affecting sex development: A registry-based cohort study
• Non-hormonal Clitoromegaly due to Clitoral Priapism Caused by Appendicitis/Appendectomy
• Adrenal steroids reference ranges in infancy determined by LC-MS/MS
• mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome
• Development of external genitalia during minipuberty: Is it related to somatic growth or hormones?
• Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C
• A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review
• Cranial MRI Abnormalities and Long-term Follow-up of the Lesions in 770 Girls with Central Precocious Puberty
• Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency
• Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity
• International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: Data from the I-CAH registry
• Management of rapidly progressive precocious puberty in a patient with mosaic turner syndrome
• Clinical and Hormonal Profiles Correlate with Molecular Characteristics in Patients with 11β-Hydroxylase Deficiency
• Predictors of surgical complications in boys with hypospadias: Data from an internationa registry
• Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency
• Rare forms of congenital adrenal hyperplasia
• Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
• Does Genotype–Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature
• Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects
• Acquired modification of sphingosine-1-phosphate lyase activity is not related to adrenal insufficiency
• Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
• Frequency of Ambiguous Genitalia in 14,177 Newborns in Turkey
• Premature pubarche, hyperinsulinemia, hypothyroxinemia and hyperintensities in basal ganglia: All caused by a single congenital defect
• Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
• The long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene
• Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers
• A rare cause of chronic hyponatremia in an infant: Answers
• Glucocorticoid deficiency causes transcriptional and post-transcriptional reprogramming of glutamine metabolism
• Restoration of Height after 11 Years of Letrozole Treatment in 11β-Hydroxylase Deficiency
• Clinical and laboratory characteristics of hyperprolactinemia in children and adolescents: National survey
• A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia
• The Spectrum from Classic to Non-Classic 11β-Hydroxylase Deficiency
• 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
• A rare cause of hypertension in childhood: Answers
• Clinical but Not Histological Outcomes in Males with 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis
• Genetic disruption of 21-hydroxylase in zebrafish causes interrenal hyperplasia
• A rare cause of hypertension in childhood: Questions
• Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation
• Response to Letter to the Editor: "clinical but Not Histological Outcomes in Males with 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis"
• Genotype–phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey
• A rare cause of chronic hyponatremia in an infant: Questions
• Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature
• Clinical Significance of Hypophosphatasemia in Children
• Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction
• Management of Systemic Hypersensitivity Reactions to Gonadotropin-Releasing Hormone Analogues during Treatment of Central Precocious Puberty
• Risk factors for mortality caused by hypothalamic obesity in children with hypothalamic tumours
• Hypoglycemia is common in children with cystic fibrosis and seen predominantly in females
• Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
• The etiology and clinical features of non-CAH gonadotropin-independent precocious puberty: A multicenter study
• Primary adrenal insufficiency in children: Diagnosis and management
• Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development
• Neonatal adrenal insufficiency: Turkish neonatal and pediatric endocrinology and diabetes Societies consensus report,Neonatal adrenal yetmezlik: Türk neonatoloji ve çocuk endokrinoloji ve diyabet dernekleri uzlaşı raporu
• Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height
• Persistent Müllerian Duct Syndrome: A Rare but Important Etiology of Inguinal Hernia and Cryptorchidism
• Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions
• Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children
• Rare causes of primary adrenal insufficiency: Genetic and clinical characterization of a large nationwide cohort
• GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey
• The distribution of different types of diabetes in childhood: A single center experience
• A patient with proopiomelanocortin deficiency: An increasingly important diagnosis to make
• Evaluation and Treatment Results of Ovarian Cysts in Childhood and Adolescence: A Multicenter, Retrospective Study of 100 Patients
• PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans
• Adrenocortical carcinoma in atypical Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2
• Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing
• Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey
• Birth weight in different etiologies of disorders of sex development
• Fibroblast Growth Factor-23 and Matrix Extracellular Phosphoglycoprotein Levels in Healthy Children and, Pregnant and Puerperal Women
• Plasma renin measurements are unrelated to mineralocorticoid replacement dose in patients with primary adrenal insufficiency
• Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease
• Growth without growth hormone syndrome in a patient with craniopharyngioma
• Follow-up of two cases of medulloblastoma with/without growth hormone therapy
• International epidemic of childhood obesity and television viewing
• 9 Years follow-up of a patient with pituitary form of resistance to thyroid hormones (PRTH): Comparison of two treatment periods of D-thyroxine and triiodothyroacetic acid (TRIAC)
• Alendronate treatment in children with osteogenesis imperfecta
• A giant ovarian cyst in a neonate with classical 21-hydroxylase deficiency with very high testosterone levels demonstrating a high-dose hook effect
• Prevalence of type 1 diabetes mellitus in 6-18-yr-old school children living in Istanbul, Turkey
• Reference values for serum dehydroepiandrosterone-sulphate in healthy children and adolescents with emphasis on the age of adrenarche and pubarche
• Cushing's syndrome due to a non-adrenal ectopic adrenocorticotropin- secreting ewing's sarcoma in a child
• IRS2 variants and syndromes of severe insulin resistance
• Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: Novel mutations in TRPM6 and CLDN16 genes
• The role of leptin, soluble leptin receptor, resistin, and insulin secretory dynamics in the pathogenesis of hypothalamic obesity in children
• Effect of breastfeeding on serum zinc levels and growth in healthy infants
• Alopecia: Association with resistance to thyroid hormones
• Puberty and influencing factors in schoolgirls living in Istanbul: End of the secular trend?
• Changes over time in sex assignment for disorders of sex development
• Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency
• A rare cause of a relatively common neonatal emergency
• Stuve-Wiedemann syndrome: Is it underrecognized?
• Critical points in the management of pseudohypoaldosteronism type 1
• Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair
• Cognitive and psychosocial development in children with familial hypomagnesaemia
• Cathepsin K analysis in a pycnodysostosis cohort: Demographic, genotypic and phenotypic features
• AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity
• Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet-Biedl syndrome
• An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W)
• Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1
• Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism
• Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome
• Comparison of oral alendronate versus prednisolone in treatment of infants with vitamin D intoxication
• Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis
• Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor
• Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
• Insulin receptor and the kidney: Nephrocalcinosis in patients with recessive INSR mutations
• The prevalence and risk factors of premature thelarche and pubarche in 4- to 8-year-old girls
• Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia
• Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z-scores in different types of rickets
• Novel associations in disorders of sex development: Findings from the I-DSD registry
• Effects of leukemia inhibitory receptor gene mutations on human hypothalamo–pituitary–adrenal function
• Premature pubarche, hyperinsulinemia and hypothyroxinemia: Novel manifestations of congenital portosystemic shunts (Abernethy Malformation) in children
• Response to the Letter to the Editor Regarding the Article: Reference values for serum dehydroepiandrosterone-sulphate in healthy children and adolescents with emphasis on the age of adrenarche and pubarche
• Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy
• T4 plus T3 treatment in children with hypothyroidism and inappropriately elevated thyroid-stimulating hormone despite euthyroidism on T4 treatment
• Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
• Higher insulin detemir doses are required for the similar glycemic control: Comparison of insulin detemir and glargine in children with type 1 diabetes mellitus
• Mutations in CYP24A1 and idiopathic infantile hypercalcemia
• Infantile loss of teeth: Odontohypophosphatasia or childhood hypophosphatasia
• The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients
• Effect of maternal factors and fetomaternal glucose homeostasis on birth weight and postnatal growth
• Content analysis of food advertising in Turkish television
• Erratum: Evaluation of diagnosis and treatment results in children with grave's disease with emphasis on the pubertal status of patients (Journal of Pediatric Endocrinology and Metabolism (2008) vol. 21 (8) (745-751))
• Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two cases.
• Severe diabetic ketoacidosis: Hyperventilation or relative hypoventilation [1]
• Withdrawal of inhaled steroids in children with non-cystic fibrosis bronchiectasis
• Significance of acanthosis nigricans in childhood obesity
• Association between inflammatory markers in induced sputum and clinical characteristics in children with non-cystic fibrosis bronchiectasis
• Hypercalciuria and recurrent urinary tract infections: Incidence and symptoms in children over 5 years of age
• Increased QT dispersion in breath-holding spells
• Bone mineral density in children with non-cystic fibrosis bronchiectasis
• Evaluation of diagnosis and treatment results in children with graves' disease with emphasis on the pubertal status of patients