Puberty is a pivotal biological process that completes sexual maturation to achieve full reproductive capability.It is a major transformational period of life,whose timing is strongly affected by genetic makeup of the...Puberty is a pivotal biological process that completes sexual maturation to achieve full reproductive capability.It is a major transformational period of life,whose timing is strongly affected by genetic makeup of the individual,along with various internal and external factors.Although the exact mechanism for initiation of the cascade of molecular events that culminate in puberty is not yet known,the process of pubertal onset involves interaction of numerous complex signaling pathways of hypothalamopituitary-testicular(HPT)axis.We developed a classification of the mechanisms involved in male puberty that allowed placing many genes into physiological context.These include(i)hypothalamic development during embryogenesis,(ii)synaptogenesis where gonadotropin releasing hormone(GnRH)neurons form neuronal connections with suprahypothalamic neurons,(iii)maintenance of neuron homeostasis,(iv)regulation of synthesis and secretion of GnRH,(v)appropriate receptors/proteins on neurons governing GnRH production and release,(vi)signaling molecules activated by the receptors,(vii)the synthesis and release of GnRH,(viii)the production and release of gonadotropins,(ix)testicular development,(x)synthesis and release of steroid hormones from testes,and(xi)the action of steroid hormones in downstream effector tissues.Defects in components of this system during embryonic development,childhood/adolescence,or adulthood may disrupt/nullify puberty,leading to long-term male infertility and/or hypogonadism.This review provides a list of 598 genes involved in the development of HPT axis and classified according to this schema.Furthermore,this review identifies a subset of 75 genes for which genetic mutations are reported to delay or disrupt male puberty.展开更多
Background： Delayed puberty can result either from constitutional delay of growth and puberty （CDP） or idiopathic hypogonadotropic hypogonadism （IHH）. Gonadotropin-releasing hormone （GnRH） stimulation test has ...Background： Delayed puberty can result either from constitutional delay of growth and puberty （CDP） or idiopathic hypogonadotropic hypogonadism （IHH）. Gonadotropin-releasing hormone （GnRH） stimulation test has been generally accepted as a current method for diagnosing delayed puberty. The objective of this research was to assess the cut-offvalues and the efficacy of GnRH stimulation test in the diagnosis of delayed puberty in both males and females. Methods： A study of 91 IHH, 27 CDP patients, 6 prepubertal children, and 20 pubertal adults was undertaken. Blood samples were obtained at 0, 30, 60, and 120 rain after GnRH administration and the levels of luteinizing hormone （LH） and follicle-stimulating hormone （FSH） were rneast, red. For each paralneter, the sensitivities and specificities were estimated, and the receiver operating characteristic （ROC） curves were constructed. Resulis： The ROC curves indicated that a serunl basal LH 〈0.6 IU/L or peak LH 〈9.74 IU/L resulted in moderate sensitivity （73.8% or 80.0%） and specificity （90.9% or 86.4%） in the diagnosis of HH in males. Serum basal LH 〈0.85 IU/L or basal FSH 〈2.43 IU/L resulted in moderate sensitivity （80.0% or 100.0%） and specificity （75.0% or 50.0%） in the diagnosis of HH in females. Conclusions： Our data suggest that isolated use of the gonadorelin stimulation test is almost sufficient to discriminate between HH and CDP in males, but unnecessary in females. The most useful predictor is serum basal or peak LH to differentiate these two disorders in males, but serum basal LH or FSH in females.展开更多
Pubertal development may be altered in boys with cryptorchidism and hypospadias,but existing kno wledge is inc on siste nt.Therefore,we investigated the association between cryptorchidism and hypospadias and pubertal ...Pubertal development may be altered in boys with cryptorchidism and hypospadias,but existing kno wledge is inc on siste nt.Therefore,we investigated the association between cryptorchidism and hypospadias and pubertal development in a large cohort study.Boys in the Puberty Cohort,a cohort nested within the Danish National Birth Cohort,were in eluded in this study.Information on cryptorchidism and hypospadias was retrieved from the Danish National Patient Register.From 11 years until 18 years or full pubertal developme nt,info rmatio n on physical markers of pubertal developme nt was provided biannu ally,in eluding Tanner stages,axillary hair,acne,voice break,and first ejaculation.In multivariate regression models for interval censored data,the mean(95%confidence intervals[Cis])d iff ere nces in months in obtaining the pubertal markers between boys with and without the anomalies were estimated.Among 7698 boys,196(2.5%)had cryptorchidism and 60(0.8%)had hypospadias.Boys with hypospadias experienced first ejaculation and voice break 7.7(95%Cl:2.5-13.0)months and 4.5(95%Cl:0.3-8.7)months later than boys without hypospadias?The age at attaining the Tanner stages for gonadal and pubic hair growth was also higher,though not statistically significant.Pubertal development seemed unaffected in boys with mild as well as severe cryptorchidism?In conclusion,hypospadias may be associated with delayed pubertal development,but pubertal development seems unaffected by cryptorchidism.The relation between hypospadias and later pubertal development may be due to the underlying shared in utero risk or genetic factors.展开更多
Topic: Kallmann syndrome (KS) is a congenital olfacto-genital disease. Affected persons show an absence of physical pubertal development, and their sense of smell is reduced or absent (anosmia). The prevalence is 1:40...Topic: Kallmann syndrome (KS) is a congenital olfacto-genital disease. Affected persons show an absence of physical pubertal development, and their sense of smell is reduced or absent (anosmia). The prevalence is 1:40,000 in women and 1:8000 to 1:10,000 in men. Development of gender identity corresponds to the assigned gender at birth. The cause of KS is a genetic defect. To date, only a few systematic investigations have delved into the psychological disstress and consequences of the somatic characteristics of KS. In order for affected persons to be appropriately informed, well-founded research results are necessary. The focus of the present study aims at examining the similarities and differences between the psychological disstress and consequences women and men experience through the development, on the one hand, and through its medical treatment on the other. The present text complements current findings on the psychological consequences of KS in men [1] and women, respectively [2]. Two questions lie at the center of the comparison: 1) Which similarities and which gender-specific differences are there concerning the perceived burdens? 2) Which coping strategies have been developed in dealing with the burdens and consequences caused by KS in the affected women and men? Which similarities and which gender-specific differences are there with respect to these coping strategies? Methodology: The survey has been carried out by means of topically focused narrative interviews of 16 men and 5 women. Based on the qualitative content analysis according to Mayring [3], categories have been generated and evaluated on the basis of the interview material. The results of the male and female samples have been contrasted and analyzed in gender-specific relevant key subjects [1,2]. Results: The comparison shows that the burdens women and men experience through KS go beyond the somato-medical problems, and that the psychosocial consequences are a heavy burden for the members of both groups. Men bear a heavier burden through inse展开更多
Background Internationally adopted children (IAC) can present growth impairment at arrival,which usually recovers over time.Moreover,a major prevalence of precocious puberty has been reported in this group.Methods All...Background Internationally adopted children (IAC) can present growth impairment at arrival,which usually recovers over time.Moreover,a major prevalence of precocious puberty has been reported in this group.Methods All IAC referred to a tertiary level hospital in Italy from January 2016 to June 2017,underwent a standardized screening protocol and were prospectively enrolled in the study.The analyses of possible risk factors for growth impairment and precocious puberty were performed.Results Overall,422 children were included (males 59.5%),with median age of 6.5 years (IQR 9.4-3.9),29.9% adopted from Europe,26.8% from Asia,23.9% from Africa and 19.4% from Latin America.Children were in Italy from a median of 75 days (IQR 137.0-38.7).Stunting was observed in 12.9% of children,wasting in 4.3%,underweight in 12.9%.Precocious puberty was diagnosed in 2.2% of children.17.1% IAC had diagnosis of special needs.Fetal alcohol spectrum disorders represented the 41.7% of children with special needs and 48.1% of Russian children.Independent predictive factors for stunting were age < 5 years,a diagnosis of special need and having been living in Italy for < 60 days since the arrival.Conclusion Stunting among IAC is a frequent finding especially in children < 5 years and in those with special needs,independently from their geographical origin.展开更多
文摘Puberty is a pivotal biological process that completes sexual maturation to achieve full reproductive capability.It is a major transformational period of life,whose timing is strongly affected by genetic makeup of the individual,along with various internal and external factors.Although the exact mechanism for initiation of the cascade of molecular events that culminate in puberty is not yet known,the process of pubertal onset involves interaction of numerous complex signaling pathways of hypothalamopituitary-testicular(HPT)axis.We developed a classification of the mechanisms involved in male puberty that allowed placing many genes into physiological context.These include(i)hypothalamic development during embryogenesis,(ii)synaptogenesis where gonadotropin releasing hormone(GnRH)neurons form neuronal connections with suprahypothalamic neurons,(iii)maintenance of neuron homeostasis,(iv)regulation of synthesis and secretion of GnRH,(v)appropriate receptors/proteins on neurons governing GnRH production and release,(vi)signaling molecules activated by the receptors,(vii)the synthesis and release of GnRH,(viii)the production and release of gonadotropins,(ix)testicular development,(x)synthesis and release of steroid hormones from testes,and(xi)the action of steroid hormones in downstream effector tissues.Defects in components of this system during embryonic development,childhood/adolescence,or adulthood may disrupt/nullify puberty,leading to long-term male infertility and/or hypogonadism.This review provides a list of 598 genes involved in the development of HPT axis and classified according to this schema.Furthermore,this review identifies a subset of 75 genes for which genetic mutations are reported to delay or disrupt male puberty.
文摘Background： Delayed puberty can result either from constitutional delay of growth and puberty （CDP） or idiopathic hypogonadotropic hypogonadism （IHH）. Gonadotropin-releasing hormone （GnRH） stimulation test has been generally accepted as a current method for diagnosing delayed puberty. The objective of this research was to assess the cut-offvalues and the efficacy of GnRH stimulation test in the diagnosis of delayed puberty in both males and females. Methods： A study of 91 IHH, 27 CDP patients, 6 prepubertal children, and 20 pubertal adults was undertaken. Blood samples were obtained at 0, 30, 60, and 120 rain after GnRH administration and the levels of luteinizing hormone （LH） and follicle-stimulating hormone （FSH） were rneast, red. For each paralneter, the sensitivities and specificities were estimated, and the receiver operating characteristic （ROC） curves were constructed. Resulis： The ROC curves indicated that a serunl basal LH 〈0.6 IU/L or peak LH 〈9.74 IU/L resulted in moderate sensitivity （73.8% or 80.0%） and specificity （90.9% or 86.4%） in the diagnosis of HH in males. Serum basal LH 〈0.85 IU/L or basal FSH 〈2.43 IU/L resulted in moderate sensitivity （80.0% or 100.0%） and specificity （75.0% or 50.0%） in the diagnosis of HH in females. Conclusions： Our data suggest that isolated use of the gonadorelin stimulation test is almost sufficient to discriminate between HH and CDP in males, but unnecessary in females. The most useful predictor is serum basal or peak LH to differentiate these two disorders in males, but serum basal LH or FSH in females.
文摘Pubertal development may be altered in boys with cryptorchidism and hypospadias,but existing kno wledge is inc on siste nt.Therefore,we investigated the association between cryptorchidism and hypospadias and pubertal development in a large cohort study.Boys in the Puberty Cohort,a cohort nested within the Danish National Birth Cohort,were in eluded in this study.Information on cryptorchidism and hypospadias was retrieved from the Danish National Patient Register.From 11 years until 18 years or full pubertal developme nt,info rmatio n on physical markers of pubertal developme nt was provided biannu ally,in eluding Tanner stages,axillary hair,acne,voice break,and first ejaculation.In multivariate regression models for interval censored data,the mean(95%confidence intervals[Cis])d iff ere nces in months in obtaining the pubertal markers between boys with and without the anomalies were estimated.Among 7698 boys,196(2.5%)had cryptorchidism and 60(0.8%)had hypospadias.Boys with hypospadias experienced first ejaculation and voice break 7.7(95%Cl:2.5-13.0)months and 4.5(95%Cl:0.3-8.7)months later than boys without hypospadias?The age at attaining the Tanner stages for gonadal and pubic hair growth was also higher,though not statistically significant.Pubertal development seemed unaffected in boys with mild as well as severe cryptorchidism?In conclusion,hypospadias may be associated with delayed pubertal development,but pubertal development seems unaffected by cryptorchidism.The relation between hypospadias and later pubertal development may be due to the underlying shared in utero risk or genetic factors.
基金Funding for this work was received from the German Society of Sexual Research.
文摘Topic: Kallmann syndrome (KS) is a congenital olfacto-genital disease. Affected persons show an absence of physical pubertal development, and their sense of smell is reduced or absent (anosmia). The prevalence is 1:40,000 in women and 1:8000 to 1:10,000 in men. Development of gender identity corresponds to the assigned gender at birth. The cause of KS is a genetic defect. To date, only a few systematic investigations have delved into the psychological disstress and consequences of the somatic characteristics of KS. In order for affected persons to be appropriately informed, well-founded research results are necessary. The focus of the present study aims at examining the similarities and differences between the psychological disstress and consequences women and men experience through the development, on the one hand, and through its medical treatment on the other. The present text complements current findings on the psychological consequences of KS in men [1] and women, respectively [2]. Two questions lie at the center of the comparison: 1) Which similarities and which gender-specific differences are there concerning the perceived burdens? 2) Which coping strategies have been developed in dealing with the burdens and consequences caused by KS in the affected women and men? Which similarities and which gender-specific differences are there with respect to these coping strategies? Methodology: The survey has been carried out by means of topically focused narrative interviews of 16 men and 5 women. Based on the qualitative content analysis according to Mayring [3], categories have been generated and evaluated on the basis of the interview material. The results of the male and female samples have been contrasted and analyzed in gender-specific relevant key subjects [1,2]. Results: The comparison shows that the burdens women and men experience through KS go beyond the somato-medical problems, and that the psychosocial consequences are a heavy burden for the members of both groups. Men bear a heavier burden through inse
文摘Background Internationally adopted children (IAC) can present growth impairment at arrival,which usually recovers over time.Moreover,a major prevalence of precocious puberty has been reported in this group.Methods All IAC referred to a tertiary level hospital in Italy from January 2016 to June 2017,underwent a standardized screening protocol and were prospectively enrolled in the study.The analyses of possible risk factors for growth impairment and precocious puberty were performed.Results Overall,422 children were included (males 59.5%),with median age of 6.5 years (IQR 9.4-3.9),29.9% adopted from Europe,26.8% from Asia,23.9% from Africa and 19.4% from Latin America.Children were in Italy from a median of 75 days (IQR 137.0-38.7).Stunting was observed in 12.9% of children,wasting in 4.3%,underweight in 12.9%.Precocious puberty was diagnosed in 2.2% of children.17.1% IAC had diagnosis of special needs.Fetal alcohol spectrum disorders represented the 41.7% of children with special needs and 48.1% of Russian children.Independent predictive factors for stunting were age < 5 years,a diagnosis of special need and having been living in Italy for < 60 days since the arrival.Conclusion Stunting among IAC is a frequent finding especially in children < 5 years and in those with special needs,independently from their geographical origin.
