Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male.

21-hydroxylase deficiency stands as the most prevalent form of congenital adrenal hyperplasia, primarily resulting from mutations in the CYP21A2 gene. On the other hand, mutations within the CYP17A1 gene lead to 17α-hydroxylase/17,20-lyase enzyme deficiencies. The scarcity of 17-OH deficiency is noteworthy, accounting for less than 1% of all congenital adrenal hyperplasia cases.

The association of FRAX with predictors of falls in the assessment of postmenopausal osteoporosis in Turkey: the fracture study of Turkey (FRACT study).

Unlabelled: Although FRAX is used for fracture risk evaluation, this tool does not include balance and fall risk. The association between the predictors of falls and high FRAX scores we found in this study suggests that risk indicators for falls may add substantial value to FRAX by improving fracture risk prediction.

Purpose: This observational, descriptive, and cross-sectional study aimed to assess the fall risk predictors and explore their association with FRAX in Turkish patients with postmenopausal osteoporosis.

Quadriceps femoris muscle ultrasound in sarcoidosis: an observational case-control study.

Background: Although loss of muscle mass may be associated with general weakness, intolerance to physical activity and fatigue, it is underestimated and poorly understood in patients with sarcoidosis.

Aim: To compare the quadriceps femoris muscle (QFM) thickness measured by ultrasonography (US) between the female patients with sarcoidosis and controls, secondly to assess the correlation between the muscle strength, fatigue and QFM thickness.

Design: Observational, case-control study.

Triponderal mass index is as strong as body mass index in the determination of obesity and adiposity.

Objective: In determining obesity and body adiposity, triponderal mass index (TMI) is as strong an anthropometric measurement as body mass index (BMI). The aim of this study was to develop TMI reference values for Turkish children and adolescents and compare TMI with BMI according to body adiposity and obesity indices.

Methods: Data from the DAMTCA-II (Determination of Anthropometric Measurements of Turkish Children and Adolescents II) study were used in this cross-sectional study.

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.

Purpose: We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency.

Methods: We used next-generation sequencing to identify variants in all pedigrees. Expression of Rnpc3/RNPC3 was analyzed by in situ hybridization on murine/human embryonic sections.

Evaluation of micronutrient levels in children and adolescents with obesity and their correlation with the components of metabolic syndrome.

Background: Obesity is a significant public health problem worldwide. Vitamin deficiencies, developing due to monotype nutrition, are more likely to be observed in patients than healthy children. The present study evaluates vitamin and micronutrient levels in children and adolescents with obesity and metabolic syndrome compared to healthy controls.

Breakfast and dinner insulin index and insulin load in relation to overweight in children and adolescents.

Purpose: Hyperinsulinemia is related to the development of several chronic diseases, particularly obesity. Therefore, this study aimed to examine the association between the insulinemic potential of both total diet and meals, measured by the glycemic index (GI), glycemic load (GL), insulin index (II), and insulin load (IL), and overweight risk among children and adolescents.

Methods: This cross-sectional study was conducted on 205 overweight and 146 normal-weight participants aged 6-18 years.

Endocrine Disruptors and Polycystic Ovary Syndrome: Phthalates.

Objective: We aimed to investigate a possible role of the endocrine disruptors phthalates, di-2-ethylhexyl phthalate (DEHP) and mono (2-ethylhexyl) phthalate (MEHP), in polycystic ovary syndrome (PCOS) aetiopathogenesis. We also wished to evaluate the relationship between phthalates and metabolic disturbances in adolescents with PCOS.

Methods: A total of 124 adolescents were included.

Does meal-time insulin dosing based on fat-protein counting give positive results in postprandial glycaemic profile after a high protein-fat meal in adolescents with type 1 diabetes: a randomised controlled trial.

Background: The present study investigated the effects of fat-protein (CFP) counting in addition to carbohydrate (CARB) counting for calculating prandial insulin dosage on blood glucose profile in patients with type 1 diabetes (T1D) on basal-bolus insulin therapy.

Methods: In this single centre, cross-over, randomised, controlled study, control meal (SM: standard meal using a carbohydrate counting method) and three test meals (HPM: high protein meal using a carbohydrate counting method; HPFM-a: high protein-fat meal using a carbohydrate counting method; HPFM-b: high protein-fat meal using a carbohydrate and fat-protein counting method) were compared on postprandial early (0-120 min), late (120-240 min) and total (0-240 min) glucose response in 30 patients with T1D, aged 16-18 years.

Results: The glucose levels of 0-90 min did not change after different meal consumptions (P > 0.

Transient endocrinologic problems in the newborn period.

Many transient endocrinologic disorders are frequently seen in newborn period. Early diagnosis and treatment is important for babies. In this article, transient endocrinopathy of newborn and relevant literature were reviewed.

Effects of Lycopene in Hyperoxia-Induced Lung Injury in Newborn Rats.

The aim of this study was to evaluate the therapeutic effect of lycopene on a hyperoxia-induced lung injury model in rat pups. Full-term rat pups were included in the study 12-24 h after delivery. The pups were separated into 4 groups: normoxia control (NC), hyperoxia control (HC), hyperoxia + lycopene (HL), and normoxia lycopene (NL).

A potential serious complication in infants with congenital obstructive uropathy: Secondary pseudohypoaldosteronism.

Patients who have secondary pseudohypoaldosteronism (PHA) in addition to hyponatraemia, hyperpotassaemia and high serum aldosterone levels for the age were included in this retrospective study.Among eight patients, seven patients were diagnosed with PHA secondary to obstructive uropathy (OUP), whereas one patient had PHA secondary to ileostomy. Six patients with OUP had simultaneous urinary tract infection (UTI) and in all except one patient, secondary PHA recovered with only UTI treatment before applying surgical correction.

Arrhythmia in thiamine responsive megaloblastic anemia syndrome.

Argun M, Baykan A, Hatipoğlu N, Akın L, Şahin Y, Narin N, Kurtoğlu S. Arrhythmia in thiamine responsive megaloblastic anemia syndrome. Turk J Pediatr 2018; 60: 348-351.

Prostate cancer sheds the αvβ3 integrin in vivo through exosomes.

The αvβ3 integrin has been shown to promote aggressive phenotypes in many types of cancers, including prostate cancer. We show that GFP-labeled αvβ3 derived from cancer cells circulates in the blood and is detected in distant lesions in NOD scid gamma (NSG) mice. We, therefore, hypothesized that αvβ3 travels through exosomes and tested its levels in pools of vesicles, which we designate extracellular vesicles highly enriched in exosomes (ExVs), and in exosomes isolated from the plasma of prostate cancer patients.

The Role of Irisin, Insulin and Leptin in Maternal and Fetal Interaction.

Objective: Insulin is an important hormone for intrauterine growth. Irisin is an effective myokine in the regulation of physiological insulin resistance in pregnancy. Leptin and insulin are associated with fetal growth and fetal adiposity.

Neonatal Hypopituitarism: Approaches to Diagnosis and Treatment.

Hypopituitarism is defined as a decreased release of hypophyseal hormones, which may be caused by disease of the pituitary gland disease or hypothalamus. The clinical findings of neonatal hypopituitarism depend on the causes and on presence and extent of hormonal deficiency. Patients may be asymptomatic or may demonstrate non-specific symptoms, but may still be at risk for development of pituitary hormone deficiency over time.

The Brazelton Neonatal Behavioral Assessment Scale: A validity and reliability study in a Turkish sample.

Background/aim: The aim of the Brazelton Neonatal Behavioral Assessment Scale (BNBAS) is to gather a comprehensive profile of neonatal functioning by describing the full range of neonatal behavior, including competencies and strengths, as well as difficulties or deviations. This instrument has proved to be of great clinical value by detecting infants at risk for later developmental problems. This work was conducted methodologically with the aim of a Turkish validity and reliability study of the BNBAS.

ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases.

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease have not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations.

Exosomal αvβ6 integrin is required for monocyte M2 polarization in prostate cancer.

Therapeutic approaches aimed at curing prostate cancer are only partially successful given the occurrence of highly metastatic resistant phenotypes that frequently develop in response to therapies. Recently, we have described αvβ6, a surface receptor of the integrin family as a novel therapeutic target for prostate cancer; this epithelial-specific molecule is an ideal target since, unlike other integrins, it is found in different types of cancer but not in normal tissues. We describe a novel αvβ6-mediated signaling pathway that has profound effects on the microenvironment.

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

The basic helix-loop-helix (bHLH) transcription factor, neuronal differentiation 1 (NEUROD1) (also known as BETA2) is involved in the development of neural elements and endocrine pancreas. Less than 10 reports of adult-onset non-insulin-dependent diabetes mellitus (NIDDM) due to heterozygous NEUROD1 mutations and 2 cases with permanent neonatal diabetes mellitus (PNDM) and neurological abnormalities due to homozygous NEUROD1 mutations have been published. A 13 year-old female was referred to endocrine department due to hyperglycemia.