47XYY syndrome is a rare sex chromosome variant with an extra Y chromosome. Most patients with a 47XYY karyotype have a normal phenotype. This disorder seems to be associated with a higher risk of developing behavior ...47XYY syndrome is a rare sex chromosome variant with an extra Y chromosome. Most patients with a 47XYY karyotype have a normal phenotype. This disorder seems to be associated with a higher risk of developing behavior and cognitive problems, tall stature and infertility in adulthood. We report here a rare case of 47, XYY syndrome associated with an 11-beta-hydroxylase deficiency revealed by a stature advance along with precocious puberty after obtaining informed consent from parents. To our knowledge, this is the first case reported in the literature.展开更多
Background The clinical manifestations of nonclassical 11beta-hydroxylase deficiency are very similar to those of nonclassical 21-hydroxylase deficiency.For this study,we investigated the relationship between the clin...Background The clinical manifestations of nonclassical 11beta-hydroxylase deficiency are very similar to those of nonclassical 21-hydroxylase deficiency.For this study,we investigated the relationship between the clinical and molecular features of congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency and reviewed the related literature,which are expected to provide assistance for the clinical diagnosis and analysis of congenital adrenal hyperplasia.Methods Clinical data for 10 Chinese patients diagnosed with congenital adrenal hyperplasia in our hospital from 2018 to 2022 were retrospectively analyzed.We examined the effects of gene mutations on protease activity and constructed threedimensional structure prediction models of proteins.Results We describe 10 patients with 11beta-hydroxylase gene mutations(n=5,46,XY;n=5,46,XX),with 10 novel mutations were reported.Female patients received treatment at an early stage,with an average age of 2.08±1.66 years,whereas male patients received treatment significantly later,at an average age of 9.77±3.62 years.The most common CYP11B1 pathogenic variant in the Chinese population was found to be c.1360C>T.All mutations lead to spatial conformational changes that affect protein stability.Conclusions Our study found that there was no significant correlation between each specific mutation and the severity of clinical manifestations.Different patients with the same gene pathogenic variant may have mild or severe clinical manifestations.The correlation between genotype and phenotype needs further study.Three-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.展开更多
Background Steroid 11β-hydroxylase deficiency （11β-OHD）, an autosomal recessive inherited disease, accounts for 5%-8% of congenital adrenal hyperplasia. It was scarcely reported in China. This article reports two ...Background Steroid 11β-hydroxylase deficiency （11β-OHD）, an autosomal recessive inherited disease, accounts for 5%-8% of congenital adrenal hyperplasia. It was scarcely reported in China. This article reports two Chinese girls with 11β-OHD. Methods The two patients were sisters and presented with hypertrichosis, skin pigmentation, laryngeal prominence and virilization of external genitalia. The patients were followed up for their clinical symptoms and signs, hormone profile, and adrenal image. The genomic deoxyribonucleic acids of the patients and their parents were isolated. 11β-hydroxylase gene （CYP11B1） was amplified by polymerase chain reaction and directly sequenced. Results Hormone tests showed that serum cortisol was in the low limit of normal range, whereas the concentrations of adrenocorticotropic hormone, testosterone and progesterone were much higher than those of normal adult females. There were obvious adrenal hyperplasia and advance of bone age. After 11 months of treatment with dexamethasone, the skin pigment became regressed; the breast, uterus and ovary gradually developed and normal menstrual cycle started while the manifestations of virilization did not change. A single point mutation of CYP11B1 （R454C, GGC → TGC） in all the members of this family was detected. The sisters were homozygous and their parents were heterozygous. Conclusions The clinical manifestation of 11β-OHD is complicated. The manifestation of virilization could not regress after treatment with dexamethasone. The novel missense mutation of CYP11B1 （R454C, GGC → TGC） is the pathogenesis of 11β-OHD at least in some Chinese patients.展开更多
OBJECTIVE:To investigated the effects of suspended moxibustion stimulating Shenshu(BL23)and Guanyuan(CV4)acupoints on the amygdala and HPA axis in our rat model and elucidated the possible molecular mechanisms of moxi...OBJECTIVE:To investigated the effects of suspended moxibustion stimulating Shenshu(BL23)and Guanyuan(CV4)acupoints on the amygdala and HPA axis in our rat model and elucidated the possible molecular mechanisms of moxibustion on kidney-Yang deficiency symptom pattern(KYDS).METHODS:Sixty male Sprague Dawley rats were randomly divided into a control group(n=12)and an experimental group(n=48).Rats in the experimental group were given intramuscular injections of hydrocortisone to establish a KYDS model.The 48 rats successfully modeled were then randomly divided into a model group(model,n=12),a carbenoxolone intraperitoneal injection group(CBX,n=12),a moxibustion group(moxi,n=12),and a moxi+CBX group(n=12).In the moxi,the Shenshu(BL23)and Guanyuan(CV 4)acupoints were treated with moxibustion for 14 d.After treatment,measures were taken of serum levels of corticosterone(CORT),adrenocorticotropic hormone(ACTH),and corticotropinreleasing hormone(CRH).The expression of mineralocorticoid receptors(MRs),glucocorticoid receptors(GRs),11beta-hydroxysteroid dehydrogenase type 1(11β-HSD1),CRH,and ACTH in the rats’amygdala,hypothalamus,or pituitary(as appropriate)was detected.Data were analyzed using one-way analysis of variance.RESULTS:Compared with those of the control group,the serum levels of CRH,ACTH,and CORT;the mRNA and protein expressions of MR,GR,and 11β-HSD1 in the amygdala;the mRNA and protein expressions of 11β-HSD1 in the hypothalamus;the CRH mRNA expression in the amygdala and hypothalamus;and the ACTH mRNA expression in the pituitary of the rats in the model group were all significantly decreased(P<0.05 or 0.01).After treatment with moxibustion,all the aforementioned observation indices except for 11β-HSD1 m RNA expression were ameliorated compared with those in the model group(P<0.05 or 0.01).CONCLUSIONS:Suspended moxibustion can effectively improve the serum levels of ACTH,CRH,and CORT and can up-regulate the mRNA and protein expressions of MR,GR,11β-HSD1,CRH,and ACTH in the amygdala and hypothalamus of KYDS rats.This may be one of the molecular mechanisms with which moxibustion alleviates KYDS.展开更多
Objective:To observe the effects of long-snake moxibustion on the hypothalamic-pituitary-adrenocortical(HPA)axis and hepatic 11β-hydroxy steroid dehydrogenase type 1(11β-HSD1)expression in rats with kidney yang defi...Objective:To observe the effects of long-snake moxibustion on the hypothalamic-pituitary-adrenocortical(HPA)axis and hepatic 11β-hydroxy steroid dehydrogenase type 1(11β-HSD1)expression in rats with kidney yang deficiency to provide a basis for later in-depth exploration of the action mechanism of longsnakemoxibustion on suchrats.Methods:Fifteen SPF-grade,male,SD rats were randomly divided into a blank control group,a model group,and a long-snake moxibustion treatment group,with five rats in each group.Hydrocortisone powder(30 mg/kg)was administered by gavage at a volume of 10 mL/kg to prepare the rat model of kidney yang deficiency.After successful modeling,the rats in the long-snake moxibustion treatment group underwent long-snake moxibustion treatment every other day along the governor vessel from Dazhui(GV14)to Shenshu(BL23),for a period of 14 days.The remaining two groups were secured in the same way as the long-snake moxibustion treatment group,although they did not receive any treatment.The body weight,rectal temperature,and spontaneous activity count of the rats,as well as serum levels of corticotropin releasing hormone(CRH)and corticosterone(CORT)were detected by ELISA before modeling,after modeling,and after treatment.The amount of 11β-HSD1 protein in rat liver was determined by immunohistochemistry and Western blot analysis.Results:Compared with the rats in the blank control group,those in the model group exhibited a significant decrease in the trend of body weight growth and in rectal temperature(P<0.05),as well as a slight yet non-significant decrease in spontaneous activity count(P>0.05);compared with the rats in the model group,the rats in the treatment group exhibited a significant increase in rectal temperature(P<0.05)and in spontaneous activity count(P<0.05).Moreover,after 14 days of treatment,compared with the rats in the blank,the rats in the model group exhibited a significant decrease in serum cORT content(P<0.05)and in the expression of 11β-HSD1 in the liver(P<0.05),as well as a slight yet non-significant decrease in serum CRH content(P>0.05);compared with the rats in the model group,the rats in the treatment group exhibited a significant increase in serum CRH content(P<0.05)and in the expression of 11β-HSD1 in the liver(P<0.05),as well as a slight yet non-significant increase in serum CORT content(P>0.05).Conclusion:Long-snake moxibustion can increase the rectal temperature and spontaneous activity count of rats with kidney yang deficiency,improve the function of the HPA axis,and increase the expression of 11β-HSD1 in the liver.展开更多
文摘47XYY syndrome is a rare sex chromosome variant with an extra Y chromosome. Most patients with a 47XYY karyotype have a normal phenotype. This disorder seems to be associated with a higher risk of developing behavior and cognitive problems, tall stature and infertility in adulthood. We report here a rare case of 47, XYY syndrome associated with an 11-beta-hydroxylase deficiency revealed by a stature advance along with precocious puberty after obtaining informed consent from parents. To our knowledge, this is the first case reported in the literature.
文摘Background The clinical manifestations of nonclassical 11beta-hydroxylase deficiency are very similar to those of nonclassical 21-hydroxylase deficiency.For this study,we investigated the relationship between the clinical and molecular features of congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency and reviewed the related literature,which are expected to provide assistance for the clinical diagnosis and analysis of congenital adrenal hyperplasia.Methods Clinical data for 10 Chinese patients diagnosed with congenital adrenal hyperplasia in our hospital from 2018 to 2022 were retrospectively analyzed.We examined the effects of gene mutations on protease activity and constructed threedimensional structure prediction models of proteins.Results We describe 10 patients with 11beta-hydroxylase gene mutations(n=5,46,XY;n=5,46,XX),with 10 novel mutations were reported.Female patients received treatment at an early stage,with an average age of 2.08±1.66 years,whereas male patients received treatment significantly later,at an average age of 9.77±3.62 years.The most common CYP11B1 pathogenic variant in the Chinese population was found to be c.1360C>T.All mutations lead to spatial conformational changes that affect protein stability.Conclusions Our study found that there was no significant correlation between each specific mutation and the severity of clinical manifestations.Different patients with the same gene pathogenic variant may have mild or severe clinical manifestations.The correlation between genotype and phenotype needs further study.Three-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.
文摘Background Steroid 11β-hydroxylase deficiency （11β-OHD）, an autosomal recessive inherited disease, accounts for 5%-8% of congenital adrenal hyperplasia. It was scarcely reported in China. This article reports two Chinese girls with 11β-OHD. Methods The two patients were sisters and presented with hypertrichosis, skin pigmentation, laryngeal prominence and virilization of external genitalia. The patients were followed up for their clinical symptoms and signs, hormone profile, and adrenal image. The genomic deoxyribonucleic acids of the patients and their parents were isolated. 11β-hydroxylase gene （CYP11B1） was amplified by polymerase chain reaction and directly sequenced. Results Hormone tests showed that serum cortisol was in the low limit of normal range, whereas the concentrations of adrenocorticotropic hormone, testosterone and progesterone were much higher than those of normal adult females. There were obvious adrenal hyperplasia and advance of bone age. After 11 months of treatment with dexamethasone, the skin pigment became regressed; the breast, uterus and ovary gradually developed and normal menstrual cycle started while the manifestations of virilization did not change. A single point mutation of CYP11B1 （R454C, GGC → TGC） in all the members of this family was detected. The sisters were homozygous and their parents were heterozygous. Conclusions The clinical manifestation of 11β-OHD is complicated. The manifestation of virilization could not regress after treatment with dexamethasone. The novel missense mutation of CYP11B1 （R454C, GGC → TGC） is the pathogenesis of 11β-OHD at least in some Chinese patients.
基金Supported by the National Natural Science Foundation of China:Study on the Mechanism of Suspension Moxibustion with Moxa Stick in Treating Hydrocortisone Rats with Kidney-Yang Deficiency based on Hippocampus(amygdala)-HPA Axis(No.81660817)。
文摘OBJECTIVE:To investigated the effects of suspended moxibustion stimulating Shenshu(BL23)and Guanyuan(CV4)acupoints on the amygdala and HPA axis in our rat model and elucidated the possible molecular mechanisms of moxibustion on kidney-Yang deficiency symptom pattern(KYDS).METHODS:Sixty male Sprague Dawley rats were randomly divided into a control group(n=12)and an experimental group(n=48).Rats in the experimental group were given intramuscular injections of hydrocortisone to establish a KYDS model.The 48 rats successfully modeled were then randomly divided into a model group(model,n=12),a carbenoxolone intraperitoneal injection group(CBX,n=12),a moxibustion group(moxi,n=12),and a moxi+CBX group(n=12).In the moxi,the Shenshu(BL23)and Guanyuan(CV 4)acupoints were treated with moxibustion for 14 d.After treatment,measures were taken of serum levels of corticosterone(CORT),adrenocorticotropic hormone(ACTH),and corticotropinreleasing hormone(CRH).The expression of mineralocorticoid receptors(MRs),glucocorticoid receptors(GRs),11beta-hydroxysteroid dehydrogenase type 1(11β-HSD1),CRH,and ACTH in the rats’amygdala,hypothalamus,or pituitary(as appropriate)was detected.Data were analyzed using one-way analysis of variance.RESULTS:Compared with those of the control group,the serum levels of CRH,ACTH,and CORT;the mRNA and protein expressions of MR,GR,and 11β-HSD1 in the amygdala;the mRNA and protein expressions of 11β-HSD1 in the hypothalamus;the CRH mRNA expression in the amygdala and hypothalamus;and the ACTH mRNA expression in the pituitary of the rats in the model group were all significantly decreased(P<0.05 or 0.01).After treatment with moxibustion,all the aforementioned observation indices except for 11β-HSD1 m RNA expression were ameliorated compared with those in the model group(P<0.05 or 0.01).CONCLUSIONS:Suspended moxibustion can effectively improve the serum levels of ACTH,CRH,and CORT and can up-regulate the mRNA and protein expressions of MR,GR,11β-HSD1,CRH,and ACTH in the amygdala and hypothalamus of KYDS rats.This may be one of the molecular mechanisms with which moxibustion alleviates KYDS.
基金Supported by National Natural Science Foundation of China:81960900。
文摘Objective:To observe the effects of long-snake moxibustion on the hypothalamic-pituitary-adrenocortical(HPA)axis and hepatic 11β-hydroxy steroid dehydrogenase type 1(11β-HSD1)expression in rats with kidney yang deficiency to provide a basis for later in-depth exploration of the action mechanism of longsnakemoxibustion on suchrats.Methods:Fifteen SPF-grade,male,SD rats were randomly divided into a blank control group,a model group,and a long-snake moxibustion treatment group,with five rats in each group.Hydrocortisone powder(30 mg/kg)was administered by gavage at a volume of 10 mL/kg to prepare the rat model of kidney yang deficiency.After successful modeling,the rats in the long-snake moxibustion treatment group underwent long-snake moxibustion treatment every other day along the governor vessel from Dazhui(GV14)to Shenshu(BL23),for a period of 14 days.The remaining two groups were secured in the same way as the long-snake moxibustion treatment group,although they did not receive any treatment.The body weight,rectal temperature,and spontaneous activity count of the rats,as well as serum levels of corticotropin releasing hormone(CRH)and corticosterone(CORT)were detected by ELISA before modeling,after modeling,and after treatment.The amount of 11β-HSD1 protein in rat liver was determined by immunohistochemistry and Western blot analysis.Results:Compared with the rats in the blank control group,those in the model group exhibited a significant decrease in the trend of body weight growth and in rectal temperature(P<0.05),as well as a slight yet non-significant decrease in spontaneous activity count(P>0.05);compared with the rats in the model group,the rats in the treatment group exhibited a significant increase in rectal temperature(P<0.05)and in spontaneous activity count(P<0.05).Moreover,after 14 days of treatment,compared with the rats in the blank,the rats in the model group exhibited a significant decrease in serum cORT content(P<0.05)and in the expression of 11β-HSD1 in the liver(P<0.05),as well as a slight yet non-significant decrease in serum CRH content(P>0.05);compared with the rats in the model group,the rats in the treatment group exhibited a significant increase in serum CRH content(P<0.05)and in the expression of 11β-HSD1 in the liver(P<0.05),as well as a slight yet non-significant increase in serum CORT content(P>0.05).Conclusion:Long-snake moxibustion can increase the rectal temperature and spontaneous activity count of rats with kidney yang deficiency,improve the function of the HPA axis,and increase the expression of 11β-HSD1 in the liver.
