Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants.

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1 gene encoding for the enzyme 11β-hydroxylase (11βOH).

Case Presentation: A 13-year-old girl was referred to the pediatric endocrinologist due to a syncopal episode.

Risk evaluation of vitamin D insufficiency or deficiency in children using simple scores: The Healthy Growth Study.

Although identification of population groups at high risk for low vitamin D status is of public health importance,there are no risk prediction tools available for children in Southern Europe that can cover this need. The present study aimed to develop and validate 2 simple scores that evaluate the risk for vitamin D insufficiency or deficiency in children. A cross-sectional epidemiological study was conducted among 2280 schoolchildren (9--13-year-old) living in Greece.

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.

Context: Isolated congenital hypoaldosteronism presents in early infancy with symptoms including vomiting, severe dehydration, salt wasting, and failure to thrive. The main causes of this rare autosomal recessive disorder is pathogenic variants of the CYP11B2 gene leading to aldosterone synthase deficiency.

Objective: To investigate the presence of CYP11B2 pathogenic variants in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of aldosterone synthase deficiency.

Adrenal Steroids in Female Hypothyroid Neonates: Unraveling an Association Between Thyroid Hormones and Adrenal Remodeling.

Context: The adrenal gland undergoes substantial remodeling during the neonatal period, an essential developmental process that remains incompletely understood. With respect to control over the remodeling process and, specifically, the role of thyroid hormones (THs), no human studies have been published. The effects of both hypo- and hyperthyroidism have only been evaluated in adults, focusing on the mature adrenal.

Effect of honey on glucose and insulin concentrations in obese girls.

Background: Childhood obesity represents a major health problem of our century. The benefits of natural products, such as honey, in the management of obesity have gained renewed interest. In this study, we investigated the effect of honey on glucose and insulin concentrations in obese prepubertal girls.