Michaela F. Hartmann

TL;DR: The results indicate for healthy boys and girls that adrenarche is a gradual process starting much earlier than hitherto believed and urinary parameters of steroidogenic enzyme activities could be useful to identify nutritional, environmental, and pathophysiological interrelations with the progressive maturational process of adrenarches.

TL;DR: The elevated ratios of pdiol to the Δ4 and Δ5 pathway metabolites as well as the higher androsterone to etiocholanolone ratio in patients with 21-OHD indicate postnatal activity of the backdoor pathway with maximum activity during early infancy.

TL;DR: This review wants to meet the need for profound information and orientation in the field of steroid analysis, and the pros and cons of the most important methods, such as immunoassays and mass spectrometry based methods will be discussed.

TL;DR: The majority of patients with mild to moderate skeletal malformations, assessed by a novel scoring system, were compound heterozygous for missense mutations, whereas nearly all patients with severe malforms carried a major loss-of-function defect on one of the affected alleles.

TL;DR: Dynamic changes in adrenocortical activity in healthy children resulting in an emerging sexual dimorphism in cortisol secretion after age 11 is demonstrated, at least partly, by diverging 5alpha-reductase activities in boys and girls.