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X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. [2] XLI manifests with dry, scaly skin [ 3 ] and is due to deletions [ 4 ] [ 5 ] or mutations [ 6 ] in the STS gene.
Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia (CAH). It arises from defects in the earliest stages of steroid hormone synthesis: the transport of cholesterol into the mitochondria and the conversion of cholesterol to pregnenolone—the first step in the synthesis of all steroid hormones.
20,22-Desmolase (P450scc) deficiency: blocks production of all steroid hormones from cholesterol [citation needed]; 3β-Hydroxysteroid dehydrogenase 2 deficiency: impairs progestogen and androgen metabolism; prevents the synthesis of estrogens, glucocorticoids, and mineralocorticoids; causes androgen deficiency in males and androgen excess in females [citation needed]
A congenital deficiency in the enzyme is associated with X-linked ichthyosis, a scaly-skin disease affecting roughly 1 in every 2,000 to 6,000 males. [7] [8] The excessive skin scaling and hyperkeratosis is caused by a lack of breakdown and thus accumulation of cholesterol sulfate, a steroid that stabilizes cell membranes and adds cohesion, in the outer layers of the skin.
Histopathology of placenta with increased syncytial knotting of chorionic villi, with two knots pointed out. The following characteristics of placentas have been said to be associated with placental insufficiency, however all of them occur in normal healthy placentas and full term healthy births, so none of them can be used to accurately diagnose placental insufficiency: [citation needed]
15484 Ensembl ENSG00000176387 ENSMUSG00000031891 UniProt P80365 P51661 RefSeq (mRNA) NM_000196 NM_008289 RefSeq (protein) NP_000187 NP_032315 Location (UCSC) Chr 16: 67.43 – 67.44 Mb Chr 8: 106.25 – 106.25 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Corticosteroid 11-β-dehydrogenase isozyme 2 also known as 11-β-hydroxysteroid dehydrogenase 2 is an enzyme that in humans is ...
The specificity of progesterone as a marker of 21-hydroxylase deficiency, as opposed to deficiency of other enzymes involved in steroid pathways, is still not well studied. [ 184 ] [ 185 ] [ 186 ] Cortisol is one of the two main final products of 21-hydroxylase, and the deficiency of this enzyme may lead to a certain degree of cortisol deficiency.
Women who endured placental disease within the first pregnancy has an increased risk of the disease progressing within future pregnancies. [13] The onset of the disease within the first trimester leads to preterm delivery of a premature baby. [ 14 ]