Ewa M. Malunowicz

TL;DR: Molecular pathogenesis of this form of congenital adrenal hyperplasia is caused by mutations in the gene encoding P450 oxidoreductase, an enzyme that is important in electron transfer from NADPH to P 450C17 and P450C21.

TL;DR: A defect in the gene HSD11B1 encoding 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), a primary regulator of tissue-specific glucocorticoid bioavailability, is suggested and H6PDH is established as a potential factor in the pathogenesis of PCOS.

TL;DR: A gas chromatography/mass spectrometry method for simultaneous measurement of 15 urinary steroid metabolites as early as the first day of life and 11 precursor/product ratios that diagnose and clearly differentiate the four enzymatic deficiencies that cause CAH are developed.

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: Cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, rendering the 11beta-HSD1 enzyme unable to operate as an oxoreductase, preventing local glucocorticoid regeneration.