17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.

Purpose: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.

Methods: Data from 97 nationwide cases were analyzed using the CEDD-NET web system.

Patients with disorders of sex development undergoing surgical treatment: A psychosocial evaluation in adolescence.

The surgical outcomes of disorders on sex development (DSD) are comparatively well studied in the literature, whereas studies investigating its impacts on mental health are scarce. In this study, we aimed to evaluate psychiatric diagnoses, sex roles, quality of life, and adolescents who were surgically treated because of DSD as well as parental attitudes in their parents. The study group consisted of 19 patients diagnosed with DSD and the control group consisted of 20 age- and gender-matched healthy peers.

Exocrine pancreas functions in children with type 1 diabetes mellitus.

Background And Study Aim: We evaluated exocrine pancreas functions using a noninvasive indicator in a case-control study conducted on children and adolescents diagnosed with type 1 diabetes mellitus.

Patients And Methods: Sixty-seven patients who participated in a summer camp were enrolled in this study. Nineteen healthy children in the same age group were assigned to the control group.

The Results of 16 Years of Iodization: Assessment of Iodine Deficiency Among School-age Children in Antalya, Turkey.

Objective: Iodine deficiency (ID) continues to be a problem around the world. This study investigated the prevalence of ID and goiter among school-age children in the city center of Antalya, Turkey. The aim was to investigate the effect of an iodization program, which had been running for sixteen years, on nutritional iodine status in this population.

The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder due to presence of mutations in the genes involved in the metabolism of steroid hormones in adrenal gland. There are two main forms of CAH, classic form and non-classic form. While classic form stands for the severe form, the non-classic form stands for the moderate and more frequent form of CAH.

Remarkable Increase in the Prevalence of Overweight and Obesity Among School Age Children in Antalya, Turkey, Between 2003 and 2015.

Objective: Childhood obesity (OB) is an acknowledged global problem with increasing prevalence reported around the world. We conducted this study with the aim of determining the local trend in OB and overweight (OW) prevalence in the last decade and to observe the alteration of OB and OW prevalence by age group. An additional aim was to construct new age- and gender-specific body mass index (BMI) reference percentile charts for Turkish children living in the city center of Antalya.

Tibial nerve axonal excitability in type 1 diabetes mellitus.

Introduction: The aim of this study was to determine alterations in axonal excitability in tibial nerve as compared with median nerve axonal excitability in patients with diabetic polyneuropathy.

Methods: Six patients with diabetic polyneuropathy and 10 patients with diabetes mellitus without polyneuropathy were enrolled.

Results: Compared with diabetic patients without polyneuropathy, the tibial nerve strength-duration time constant was significantly longer and supernormality was lower in those with polyneuropathy.

The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study.

Objective: Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS patients in Turkey and their growth response to GH treatment.

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.

Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable.

LC-MS/MS analysis of plasma polyunsaturated fatty acids in patients with homozygous sickle cell disease.

The aim of this study was to determine circulating omega-6, omega-3 polyunsaturated fatty acids and prostaglandin E2 (PGE2) levels in steady state sickle cell disease (SCD) patients. Blood was collected from healthy hemoglobin volunteers and steady state homozygous HbSS patients who had not received blood transfusions in the last 3 months. Plasma levels of arachidonic acid (AA, C20:4n-6), dihomo-gamma-linolenic acid (DGLA, C20:3n-6), eicosapentaenoic acid (EPA, C20:5n-3) and docosahexaenoic acid (DHA, C22:6n-3) were determined by an optimized multiple reaction monitoring method using ultrafast liquid chromatography coupled with tandem mass spectrometry.

The effect of hemolysis on plasma oxidation and nitration in patients with sickle cell disease.

This study aimed to determine the effect of haemolysis on plasma oxidation and nitration in sickle cell disease (SCD) patients. Blood was collected from haemoglobin (Hb)A volunteers and homozygous HbSS patients who had not received blood transfusions in the last 3 months. Haemolysis was characterised by low levels of haemoglobin and haptoglobin and high levels of reticulocyte, mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH), plasma cell-free haemoglobin, bilirubin, total lactate dehydrogenase (LDH) and dominance of LDH-1 isoenzyme.