There is controversial results about serum kisspeptin, neurokinin-B (NKB), anti-Müllerian hormone (AMH) and inhibin B (INHB) levels in girls with central precocious puberty (CPP). Aim of this study to evaluate these four peptides patients presented early pubertal signs, their diagnostic validity the diagnosis CPP.Cross-sectional study.Study included 99 (51 CPP, 48 premature thelarche [PT]) whose breast development started before 8 years 42 age-matched healthy prepubertal girls. Clinical...

With the diagnosis of chronic illness in children, a stressful period is likely to begin for both affected child and their families. The aim this study was investigate factors affecting disease management by parents children diagnosed with type 1 diabetes mellitus (T1DM).The sample consisted 110 aged between 4-17 years mothers. patients had been T1DM at least one year, attended pediatric endocrinology outpatients or were hospitalized single center. First, sociodemographic information about...

Inflammation is a feature of non-alcoholic fatty liver disease progression and plays an important role in hepatic steatosis fibrosis. Since there are no studies the literature showing relationship between hepatosteatosis with systemic immune-inflammation index (SII) pan-immune inflammation value (PIV), we aimed to evaluate these biomarkers childhood.We included 133 consecutive obese children adolescents aged 6-18 years into this single-center, retrospective, cross-sectional study....

The aim was to analyze the incidence trend and annual average change of type 1 diabetes (T1DM) in population <18 years age Malatya province.Medical files patients followed up with T1DM pediatric endocri- nology clinics were reviewed. data for child census taken from Turkish Statistical Institute (TUIK), analyzed according calendar year, gender, groups. Recently diagnosed per 100 000 children year calculated. In addition, over period 2007-2019 analyzed.The mean during 13 13.1/105 (13.8/105...

Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. In childhood, PAI usually caused by monogenic diseases. Although congenital hyperplasia (CAH) the most common cause of childhood PAI, numerous non-CAH genetic causes have also been identified.Patients aged 0-18 years and diagnosed with between 1998 2019 in tertiary care hospital were retrospectively evaluated. After etiologic distribution was determined, patients evaluated detail.Seventy-three...

Idiopathic hypogonadotropic hypogonadism (IHH) is classified into two groups-Kalman syndrome and normosmic IHH (nIHH). Half of all cases can be explained by mutations in >50 genes. Targeted gene panel testing with nexrt generation sequencing (NGS) required for patients without typical phenotypic findings. The aim was to determine the genetic etiologies using NGS, including 54 IHH-associated genes, present protein homology modeling stability analyzes detected variations.Clinical demographic...

Familial Mediterranean Fever (FMF) is an autosomal recessive form of recurrent episodes fever and autoinflammatory disease characterized by inflammation the serous membranes. The clinical diagnosis supported laboratory findings. This study investigated relationship Serum Amyloid A (SAA), YKL-40, Pentraxin-3 (PTX-3) with FMF disease.About 50 patients were enrolled in this study. Patients divided into three groups according to severity score (mild, moderate, severe). Thirty-seven healthy...

Variants of the melanocortin-4 receptor (MC4R) gene are most common cause monogenic obesity. It has been shown that, while obesity cannot be controlled with diet and exercise, glucagon-like-peptide-1 agonists (GLP-1 RA) provide weight loss in short term. In this paper, our experience liraglutide treatment an adolescent patient carrying a MC4R variant is presented. A female was admitted first at age 12.5 years complaint progressive gain. She had marked excess appetite since infancy. On...

The enzyme 17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) catalyzes the biosynthesis of testosterone (T) from Δ4-androstenedione, and plays an important role in final steps androgen synthesis. 17β-HSD3 deficiency originates mutations HSD17B gene, causing autosomal recessive 46,XY sex developmental disorder (DSD). Patients with karyotype can exhibit a wide phenotypic spectrum, varying complete external female genitalia to male hypospadias. Here we report case diagnosed infantile period...

Context: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as well an increased mineralocorticoid effect. Aim: This study aimed to evaluate the clinical, biochemical, molecular characteristics of patients with 17OHD discuss diagnosis, treatment, follow-up process. Methods: Age, symptoms, anthropometric measurements, blood pressure, hormonal, chromosomal analysis results 13 diagnosed between 2003 2022 were recorded at admission...

Although there is a relationship between earlier onset of puberty and increased adiposity tissue. Publications in the literature on adiposis patients with central precocious (CPP) visceral fat thickness (VFT) have conflicting results. So, this study, we aimed to evaluate sexual maturation obesity development early examine their pelvic sonographic parameters.A total 126 girls [patients - premature thelarche (PT) CPP controls] were included study. Anthropometric ultrasonographic evaluations...

The study aim was to examine changes in trends of presenting features during the diagnosis patients followed up with newly diagnosed Type 1 diabetes mellitus (T1DM) over past 24 years.The retrospective. Patients a T1D between years 1996-2019 were included. first half period comprised Period I, and those from second II. Patient data extracted medical records included gender distribution, year diagnosis, age at duration symptoms, type admission, frequency diabetic ketoacidosis (DKA)...

Objective: There is no definitive consensus on asthma exacerbation scoring for preschool children with recurrent wheezing. The Clinical Asthma Score (CAS) and Severity (ASS) are two systems that can be used in this population. aim of study was to evaluate the relationship between CAS ASS, acute treatment, outcomes Materials Methods: included 70 patients aged 2-5 years who presented pediatric emergency department due an wheezing episode. ASS were evaluated at presentation after initial...

Amaç: Tip 1 diabetes mellitus (T1DM) tanılı çocuklar diyabet öz bakımında gözetime ihtiyaç duymaktadırlar ve günün önemli bir kısmını geçirdikleri okuldaki koşullar hastalık yönetimini etkilemektedir. Bu çalışmanın amacı, T1DM ana sınıfı ilkokul çağındaki çocukların okulda yönetimi ile ilgili karşılaştıkları sorunları ortaya koymaktır. Gereç Yöntem: kesitsel çalışmaya 5-10 yaş aralığındaki 50 hasta dahil edildi. Literatür doğrultusunda araştırmacı tarafından geliştirilen yönetimiyle anket,...

Distal renal tubular acidosis (dRTA) may rarely occur in the course of autoimmune diseases. We present a patient who was followed up with Graves' disease and vitiligo diagnosed dRTA upon detection hypopotasemia. A 9.2-year-old girl presented complaints sweating, palpitations, hand tremors. The had on examination per clinical laboratory findings. patient, received methimazole as euthyroid, found to have hypokalemia biochemical examinations performed at age 13 years. While investigating...

Introduction:Although more common in adults, autoimmune thyroiditis (AT) is one of the most thyroid diseases children and adolescents.Salivary gland involvement has been described many studies patients with AT.Several inflammatory scores are used to assess status systemic diseases.We aimed sonographically evaluate parotid submandibular salivary glands parameters AT our study.Methods: Our study population consisted 37 consecutive pediatric 29 healthy control subjects.Ultrasonographic...

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There is a scarcity of data concerning endocrine function and the effects enzyme replacement therapy (ERT) on growth other functions in patients with mucopolysaccharidosis (MPS). This study retrospectively evaluated height increase, bone mineral density (BMD), MPS who received ERT for at least two years our clinic. The clinical findings, hormonal analysis (TSH, fT4, ACTH, cortisol, FSH, LH, testosterone, estradiol, prolactin, GH, IGF-1, IGFBP-3), BMD measurements 10 patients, aged 0-18...

Familial hypocalciuric hypercalcemia (FHH) is a benign disease associated with heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene. This article presents girl p.Cys575Tyr variation CaSR The serum calcium level of 9.2-year-old was 12.4mg/dl incidental laboratory analysis. On same occasion, parathyroid hormone (PTH) 45 pg/ml, 25(OH) vitamin D 24.2ng/ml, 1.25 dihydroxy 22pg/ml, and urinary Ca/creatinine ratio &lt;0.01. ultrasonographic evaluation system unremarkable....

Amaç: Çocuklarda,