Evaluation of permanent and transient congenital hypothyroidism in cases referred from National Neonatal Screening Program.

Aim: The incidence of congenital hypothyroidism (CH) has increased world-wide. Lowering cut-off in screening programs has led to an increase in the rate of transient CH. We aimed to evaluate the rates of permanent and transient CH in cases referred from the screening program and to investigate the clinical and laboratory factors which predict transient CH.

Unfavorable Effects of Low-carbonhydrate Diet in a Pediatric Patient with Type 1 Diabetes Mellitus.

A balanced and healthy diet is very important in type 1 diabetes mellitus (T1DM) in childhood. In addition to regulating blood glucose with diet, diet should also support optimal growth. Low-carbohydrate diet aims to provide daily energy from fats and was originally used for childhood epilepsy.

Effects of subclinical emotional and behavioral problems on metabolic control in adolescents with type 1 diabetes: Role of maternal and adolescent personality traits.

Background: Personality traits of adolescents with type 1 diabetes mellitus (T1DM) and those of their mothers may lead to poor glycemic control through psychiatric comorbidity. However, it is not yet known how the personality traits of adolescents with T1DM and those of their mothers affect metabolic control in the absence of or before the development of psychiatric disorders. We aimed to determine the effects of subclinical emotional and behavioral problems, as well as maternal and own personality traits, on metabolic control in adolescents with T1DM.

Mild phenotype in two siblings with a missense GHR variant.

Objectives:  Laron syndrome (LS) is a disease caused by growth hormone receptor (GHR) defects. It is characterized by severe postnatal growth retardation and distinctive facial features.

Case Presentation: In this case report, we describe the clinical and biochemical characteristics of two siblings with LS, a sister and a brother, and identify a homozygous c.

Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.

Background: Transaldolase (TALDO) deficiency (OMIM #606003) is a rare autosomal recessive multi-systemic disorder of carbohydrate metabolism. It has a vast phenotypic spectrum ranging from neonatal liver failure to slowly progressive liver cirrhosis and is characterized by intrauterine growth restriction, hepatosplenomegaly, bicytopenia, nephrolithiasis, and congenital heart disease.

Methods And Results: We report a patient with a late-onset form of TALDO deficiency characterized by hypergonadotropic hypogonadism and slightly elevated levels of alpha-fetoprotein (AFP).