OBJECTIVE: To explore the genetic basis for a sib pair featuring 17beta-hydroxysteroid dehydrogenase type 3 deficiency. METHODS: Genomic DNA was extracted from the proband, her sister, and their parents, and was subjected to sequencing analysis with a gene panel for sexual development. Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Both the proband and her sister were found to harbor novel compound heterozygous missense variants of the HSD17B3 gene, namely c.839T>C (p.Leu280Pro) and c.239G>T (p.Arg80Leu), which were derived respectively from their mother and father. The variants were unreported previously and predicted to be deleterious by PolyPhen2, MutationTaster and other online software. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.839T>C(p.Leu280Pro) and c.239G>T (p.Arg80Leu) were predicted to be likely pathogenic (PM2+PP1+PP2+PP3+PP4, PM2+PM5+PP1+PP2+PP3+PP4). CONCLUSION The compound heterogeneous variants of the HSD17B3 gene probably underlay the disease in this sib pair. 17beta-hydroxysteroid dehydrogenase type 3 deficiency may lack specific clinical features and laboratory index, genetic testing can facilitate a definitive diagnosis.
17-Hydroxysteroid Dehydrogenases/genetics* ; Female ; Genetic Testing ; Genomics ; Humans ; Mutation ; Mutation, Missense

Non-alcoholic fatty liver disease (NAFLD) is an epidemic metabolic condition driven by an underlying lipid homeostasis disorder. The lipid droplet (LD), the main organelle involved in neutral lipid storage and hydrolysis, is a potential target for NAFLD therapeutic treatment. In this review, we summarize recent progress elucidating the connections between LD-associated proteins and NAFLD found by genome-wide association studies (GWAS), genomic and proteomic studies. Finally, we discuss a possible mechanism by which the protein 17β-hydroxysteroid dehydrogenase 13 (17β-HSD13) may promote the development of NAFLD.
17-Hydroxysteroid Dehydrogenases ; genetics ; metabolism ; Animals ; Genome-Wide Association Study ; Genomics ; Humans ; Lipid Droplets ; metabolism ; Lipid Metabolism ; genetics ; Non-alcoholic Fatty Liver Disease ; genetics ; metabolism ; Proteomics

OBJECTIVETo investigate the effects of Ginkgo biloba extract (EGB) on the testosterone synthesis in the Leydig cells of type 2 diabetic rats.

METHODSThirty male SD rats were equally randomised into a normal control, a type 2 diabetic and an EGB group. Morphological changes of Leydig cells were observed by light microscopy (LM) and transmission electron microscopy (TEM), concentrations of serum luteinizing hormone (LH) and testosterone (T) were determined by enzyme linked immunosorbent assay (ELISA), and the mRNA levels in the steroidogenic acute regulatory protein (StAR), cytochrome P450 side chain cleavage (P450scc), cytochrome P450 17a-hydroxylase (P450c17), 17beta-hydroxysteroid dehydrogenase 3 (17beta-HSD3) and 3beta-hydroxysteroid dehydrogenase (3beta-HSD1) from the Leydig cells were examined by RT-PCR.

RESULTSCompared with the normal control, there was a significant decrease in the number and volume of Leydig cells, the levels of serum LH and T and the expression of mRNA in StAR, P450scc, 17beta-HSD3 and 3beta-HSD1 in the type 2 diabetes group. And the expression of the P450c17 gene showed a tendency of descending, but with no significance. Compared with the type 2 diabetes group, 12 weeks of EGB treatment caused very slight pathological changes in the Leydig cells, significantly increased the concentrations of blood LH and T, markedly elevated the levels of mRNA in StAR and P450scc and induced an ascending tendency of the expressions of P450c17, 17beta-HSD3 and 3beta-HSD1.

CONCLUSIONEGB enhances testosterone synthesis and secretion of Leydig cells by reducing the impairment of the testis in type 2 diabetic rats.

17-Hydroxysteroid Dehydrogenases ; genetics ; Animals ; Cholesterol Side-Chain Cleavage Enzyme ; genetics ; Diabetes Mellitus, Type 2 ; blood ; genetics ; physiopathology ; Enzyme-Linked Immunosorbent Assay ; Gene Expression ; drug effects ; Ginkgo biloba ; chemistry ; Hydroxysteroid Dehydrogenases ; genetics ; Leydig Cells ; drug effects ; metabolism ; ultrastructure ; Luteinizing Hormone ; blood ; Male ; Microscopy, Electron, Transmission ; Phosphoproteins ; genetics ; Plant Extracts ; pharmacology ; RNA, Messenger ; genetics ; metabolism ; Rats ; Rats, Sprague-Dawley ; Reverse Transcriptase Polymerase Chain Reaction ; Testosterone ; biosynthesis ; blood

OBJECTIVETo explore the mechanism of inhibitory effect of SLW on estrogen production by endometrial cells of endometriosis.

METHODAfter the model of eutopic primary cultured endometrial cells of endometiosis and hysteromyoma in vitro was successfully established, the changes of steroidgenic factor-1 (SF-1), chicken ovalbumin upstream-transcription factor (COUP-TF), 17-beta-hydroxysteroid dehydrogenase 1 (17-beta-HSD1) and 17-beta-hydroxysteroid dehydrogenase 2 (17-beta-HSD2) mRNA were detected by RT-PCR before and after treatment of medicated serum of SLW. The changes of SF-1 and COUP-TF protein were also observed by western blot synchronously according to the same treatment method mentioned-above. Meanwhile ,the data of hysteromyoma group was obtained from the above experiments.

RESULTThe expression of SF-1 mRNA and protein, 17-beta-HSD1 mRNA was weak, but COUP-TF mRNA and protein, 17-beta-HSD2 mRNA was remarkable in Hysteromyoma endometrium, as compared with those of endometiosis ,which was taken as control group (P<0.01). After the 48 hours' treatment of medicated serum of 5.0, 2.5 g kg(-1) d(-1) of SLW , the expression of COUP-TF mRNA and protein, 17beta-HSD2 mRNA was found significantly increased, but SF-1 mRNA and protein, 17-beta-HSD 1 mRNA was decreased in contrast to the control group (P <0.01 or P <0.05). Although the expresson of COUP-TF mRNA and protein was increased, SF-1 protein and 17-beta-HSD1 mRNA was decreased in 1.25 g kg(-1) d(-1) medicated serum group ,compared with those of the control group (P <0.01), the low dose group had no apparent inhibitory effect on the expression of SF-1, 17-beta-HSD2 mRNA.

CONCLUSIONThe medicated serum of SLW could inhibit the secretion of estradiol in eutopic endometrial cells of endometiosis, and its mechanism might be associated with combined action of inhibiting expression of SF-1, 17-beta-HSD1 and up-regulating expression of COUP-TF, 17-beta-HSD2.

17-Hydroxysteroid Dehydrogenases ; genetics ; Adult ; Animals ; COUP Transcription Factors ; genetics ; Drugs, Chinese Herbal ; pharmacology ; Endometriosis ; blood ; metabolism ; pathology ; Endometrium ; drug effects ; metabolism ; pathology ; Estradiol Dehydrogenases ; Estrogens ; biosynthesis ; Female ; Gene Expression Regulation ; drug effects ; Humans ; In Vitro Techniques ; Middle Aged ; RNA, Messenger ; genetics ; metabolism ; Rats ; Serum ; chemistry ; Steroidogenic Factor 1 ; genetics

OBJECTIVETo investigate the alteration of the gene HSD17B4 in esophageal squamous cell carcinoma and its potential significance.

METHODSThe mRNA expression and loss of heterozygosity (LOH) of HSD17B4 in 40 primary esophageal tumors were detected by reverse transcriptase-polymerase chain reaction (RT-PCR) and microsatellite analysis with the intragenic marker D5S1384 of the gene.

RESULTSThe frequencies of allelic loss of D5S1384 and the rate of down-regulation of gene HSD17B4 were 46.2% and 62.5%, respectively.

CONCLUSIONHSD17B4 may be a candidate tumor suppressor gene associated with esophageal squamous cell carcinoma.

17-Hydroxysteroid Dehydrogenases ; biosynthesis ; genetics ; Adult ; Aged ; Carcinoma, Squamous Cell ; genetics ; Down-Regulation ; Enoyl-CoA Hydratase ; biosynthesis ; genetics ; Esophageal Neoplasms ; genetics ; Female ; Gene Expression ; Gene Expression Regulation, Neoplastic ; genetics ; Genes, Tumor Suppressor ; Humans ; Hydro-Lyases ; Loss of Heterozygosity ; Male ; Microsatellite Repeats ; Middle Aged ; Multienzyme Complexes ; biosynthesis ; genetics ; Peroxisomal Multifunctional Protein-2 ; RNA, Messenger ; biosynthesis ; genetics ; Reverse Transcriptase Polymerase Chain Reaction