Adrenal insufficiency can arise from a primary adrenal disorder, secondary to
adrenocorticotropic hormone deficiency, or by suppression of adrenocorticotropic hormone …

Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing
enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol …

X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads …

Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis
occurs in these organelles and they provide energy in the form of ATP for hormone …

Background Addison's disease (AD) is a rare disorder and among adult population in
developed countries is most commonly caused by autoimmunity. In contrast, in children …

Steroidogenesis begins with cellular internalization of low-density lipoprotein particles and
subsequent intracellular processing of cholesterol. Disorders in these steps include …

It is well established that somatic genomic changes can influence phenotypes in cancer, but
the role of adaptive changes in developmental disorders is less well understood. Here we …

Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic
disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of …

Summary Background Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …

Progesterone, estrogens, androgens and glucocorticoids are involved in pregnancy from
implantation to parturition. Their biosynthesis and their metabolism result from complex …