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Steroid biosynthesis

About: Steroid biosynthesis is a research topic. Over the lifetime, 1721 publications have been published within this topic receiving 58977 citations.


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Journal ArticleDOI
TL;DR: The Q258X mutation was identified in 9 out of 10 alleles, indicating that the genetic defect in the StAR gene of Korean patients with CLAH is highly homogeneous probably due to a founder effect.
Abstract: Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder of steroid biosynthesis, caused by a molecular defect in the steroidogenic acute regulatory protein (StAR). Patients with CLAH usually manifest severe salt wasting, hypovolemia, enlargement of the adrenal glands and complete female external genitalia irrespective of the gonadal sex. CLAH seems to be more common in Koreans and Japanese than in other ethnic populations, with a preponderance of the mutation of a glutamine to a stop codon at the 258th amino acid residue (Q258X) in the StAR gene. Clinical findings of five unrelated Korean patients with CLAH and their molecular defects in the StAR gene are described, and the gene frequency of the Q258X mutation in the Korean population is investigated. All patients developed hypovolemic shock due to severe salt wasting in the first three months after birth. All were hyperpigmented, and three of five phenotypic females were genetic males. The basal ACTH level was extremely high in all patients with the minimal concentrations of all adrenal and gonadal steroids. The Q258X mutation was identified in 9 out of 10 alleles, indicating that the genetic defect in the StAR gene of Korean patients with CLAH is highly homogeneous probably due to a founder effect. The carrier frequency of the Q258X mutation in the normal Korean population has been estimated as approximately 1 in 250 with the allele frequency of 1 in 500. However, the confidence limits of the gene frequency for the mutant allele are wide (0.5 to 8.0 among 1,000 alleles). This implies that the carrier frequency could be lower, down to 1/1,000, or higher, up to 16/1,000.

37 citations

Journal ArticleDOI
TL;DR: The follicular epithelial layers of the developing ovary of two cichlid species were examined by electron microscopy for evidence of steroid secretion and evidence was found of transfer of micropinocytotic vesicles from the granulosa cells into the ooplasm.
Abstract: The follicular epithelial layers of the developing ovary of two cichlid species were examined by electron microscopy for evidence of steroid secretion. As each oocyte grew, its follicular cell layers increased in height, eventually becoming somewhat columnar; no development could be detected in follicle cells of non-activated oocytes. Isolated cells close to capillaries in the thecal layer developed large amounts of smooth membrane indicative of steroidogenesis, appearing similar at maturity to testicular Leydig cells. In Cichlasoma nigrofasciatum the mitochondria of differentiated thecal elements contained microtubule-like inclusions. It is suggested that these cells may produce estrogens during vitellogenesis.

37 citations

Journal ArticleDOI
TL;DR: Addition of precursors of sex hormones, such as pregnenolone, DHA, and Δ4-androstenedione to the culture media increases significantly steroid production, but in patterns appropriate with respect to the sexual differences observed in control gonads.

37 citations

Journal ArticleDOI
TL;DR: The expression of testicular hormone‐sensitive lipase mRNA and protein coincided with the onset of spermatogenesis and was dependent on scrotal localization of the testis, suggesting a temperature‐dependent, pretranslational regulation of expression.

37 citations


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Performance
Metrics
No. of papers in the topic in previous years
YearPapers
202315
202221
2021117
2020109
201975
201860