A5019491596- Parathyroid Disorders and Treatments
- Electrolyte and hormonal disorders
- Hormonal Regulation and Hypertension
- Sexual Differentiation and Disorders
- Neurological diseases and metabolism
- Heterotopic Ossification and Related Conditions
- Hypothalamic control of reproductive hormones
- Vitamin K Research Studies
- Pituitary Gland Disorders and Treatments
- Ion Transport and Channel Regulation
- Bone health and treatments
- Cerebrospinal fluid and hydrocephalus
- Leprosy Research and Treatment
- Hormonal and reproductive studies
- Dermatological and Skeletal Disorders
- Blood groups and transfusion
- Medical Imaging and Pathology Studies
- Metabolism and Genetic Disorders
- Connexins and lens biology
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
Cukurova University
2018-2021
Idiopathic hypogonadotropic hypogonadism (IHH) can be divided into two major forms, normosmic IHH and Kallmann syndrome (KS). Genetic mutations are responsible for the majority of IHH. PLXNA1 has recently been implicated in GnRH neuron migration etiology KS. We aimed to investigate prevalence associated phenotypes variants a large cohort patients. screened whole exome data 215 patients single center causative variants. Our studies showed eight novel (p.Arg836His, p.Lys1451Arg, p.Val287Met,...
Summary Background and Aim Hypoaldosteronism is associated with either insufficient aldosterone production or resistance (pseudohypoaldosteronism). Patients defects typically present similar symptoms findings, which include failure to thrive, vomiting, hyponatremia, hyperkalemia metabolic acidosis. Accurate diagnosis of these clinical conditions therefore can be challenging. Molecular genetic analyses help greatly clarify this complexity. The aim study was obtain an overview the...
Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23), klotho (KL) and polypeptide N-acetylgalactosaminotransferase 3 (GALNT3) genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC present hyperphosphatemia tumor like soft tissue calcifications. Although 78% of patients develop their first symptoms between the ages 2-13 years, diagnosis is usually delayed until adulthood. Some individuals same genetic defect...
Inappropriate antidiuretic hormone syndrome (SIADH) may develop after intracranial surgery. SIADH in the pediatric age group is usually encountered patients with an mass both before and Fluid restriction standard therapy SIADH. However, a resistant, hyponatremic pattern be some cases. Vaptans have been recently introduced for treatment of hyponatremia due to There inadequate data concerning tolvaptan patients. We present 13 year-old female triphasic episode who was transferred our clinic...
Abstract Objectives Hereditary Hypophosphatemic Rickets (HHR) is a heterogeneous group of disorders characterized by hypophosphatemia. Although the X-linked dominant HHR most common form, genetic etiology variable. Recently, developed next-generation sequencing techniques may provide opportunities for making diagnosis in timely and efficient way. Methods We investigated clinical features 18 consecutive probands their 17 affected family members with HHR. All patient’s biochemical data were...