Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.

Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency due to the homozygous PCK1 variant has recently been associated with childhood-onset hypoglycemia with a recognizable pattern of abnormal urine organic acids. In this study, 21 children and 3 adult patients with genetically confirmed PEPCK-C deficiency were diagnosed during the years 2016 to 2019 and the available biochemical and clinical data were collected. All patients were ethnic Finns.

Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.

Patients with deletions on chromosome 9q31.2 may exhibit delayed puberty, craniofacial phenotype including cleft lip/palate, and olfactory bulb hypoplasia. We report a patient with congenital HH with anosmia (Kallmann syndrome, KS) and a de novo 2.

Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism.

Context: Recombinant human FSH (r-hFSH), given to prepubertal boys with hypogonadotropic hypogonadism (HH), may induce Sertoli cell proliferation and thereby increase sperm-producing capacity later in life.

Objective: To evaluate the effects of r-hFSH, human chorionic gonadotropin (hCG), and testosterone (T) in such patients.

Design And Setting: Retrospective review in three tertiary centers in Finland between 2006 and 2016.

Serum 25-Hydroxyvitamin D, Plasma Lipids, and Associated Gene Variants in Prepubertal Children.

Context: The associations of serum 25-hydroxyvitamin D [25(OH)D] with plasma lipids remain controversial in children.

Objective: To examine the associations and interactions of 25(OH)D and related gene variants with lipids in children.

Design: Cross-sectional.

Body fat mass, lean body mass and associated biomarkers as determinants of bone mineral density in children 6-8years of age - The Physical Activity and Nutrition in Children (PANIC) study.

Lean body mass (LM) has been positively associated with bone mineral density (BMD) in children and adolescents, but the relationship between body fat mass (FM) and BMD remains controversial. Several biomarkers secreted by adipose tissue, skeletal muscle, or bone may affect bone metabolism and BMD. We investigated the associations of LM, FM, and such biomarkers with BMD in children.

Inhaled corticosteroids and bone mineral density at school age: a follow-up study after early childhood wheezing.

Objective: The aim of the study was to evaluate the association between previous use of ICS and bone mineral density (BMD) at school age in a cohort followed after early childhood wheezing.

Methods: As part of a prospective follow-up study after hospitalization for wheezing at <24 months of age, BMD was measured in 89 children at 12.3 (median) years of age.

Overweight does not increase asthma risk but may decrease allergy risk at school age after infantile bronchiolitis.

Aim: Increasing evidence suggests that overweight children are at increased risk of asthma. The association between weight gain and allergy is more complex. The aim was to evaluate the association between overweight or obesity and asthma, allergy, bronchial reactivity or atopic sensitization at school age in children with bronchiolitis in infancy.

Lung function and overweight in school aged children after early childhood wheezing.

Background And Purpose: Recently, obesity has been connected with wheezing, asthma and reduced lung function. Most previous studies have been cross-sectional. The aim of the present follow-up study was to evaluate the association of preceding or current overweight or obesity with lung function at early and late school age after early childhood wheezing.