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PubMed1988

47,XXX: what is the prognosis?

Eleven unselected 47,XXX girls, now 15 to 22 years of age, have been observed from birth in a prospective study of children with sex chromosome anomalies. A description of their growth and development is presented. The 47,XXX infants were not generally distinguishable from chromosomally normal children in the first year of life, even though there was a slight delay in neuromotor development. By 2 years of age, developmental delays in speech and language often became evident, and speech therapy was often necessitated in the preschool years. Early school problems included speech and language deficiencies, lack of coordination, poor academic performance, and immature behavior; these persisted throughout the school years. By high school age, a 47,XXX girl was generally tall and often subject to somatic complaints. Sexual development was generally normal. Seven of the 11 propositae had a diagnosed psychiatric disorder or disturbance at some time during adolescence. Variability within this syndrome is great; one proposita is in college and another is mentally retarded. The frequency of the diagnosis of the 47,XXX karyotype by genetic amniocentesis is estimated to be 1/1000, the same incidence as in the newborn population. Expectant parents must be counseled as to the significance of this karyotype and prognostic information must be given. Suggested guidelines are included.

Adaptation, Psychological↗
PubMedDate not supplied

Spermiological findings in various disturbances of somatosexual development.

It is described to which extent the fertility potential in the following six groups of patients living in sterile marriages is lowered: in 298 patients with Klinefelter's syndrome, 38 hypogonadotropic eunuchoids, 216 bilateral and 258 unilateral cryptorchids, in 500 men with testicular hypoplasia in whom the long axis of both testicles had always been shorter than 34 mm, and in 109 men with a varicocele. The opinion is expressed that the above mentioned pathologic states of the genital organs are of primary nature and occurred at various stages of somato-sexual development.

Adult↗
PubMed2003

[Discovery of analogous balanced translocation syndrome and its clinical genetics research].

OBJECTIVE: To find out the clinical genetic law of relation between a group of special chromosomal structural abnormality including bit Y, inv(9), S+, No. 1, 9, 16 chromosomal qh+/-, and the balanced translocation. METHODS: By means of binomial distribution method, 980 cases were analyzed for balanced chromosome translocation, big Y, inv(9), S+ and qh+/-, and according to the clinical features the 980 cases were divided into 4 groups: spontaneous abortion, abnormal sexual development, labouring disease and disabled or diseased condition of the patient. RESULTS: In these 980 cases of balanced translocation, big Y, inv(9), S+ and qh+/-, the chief clinical features caused by the various different conditions have a high similarity (P > 0.20-0.50). CONCLUSION: The big Y, inv(9), S+, and qh+/- leading to the occurrence of the chief clinical features belong to the analogous balanced translocation syndrome. This fact indicates that in the process of sexual reproduction, the minute unequivalent exchange in the molecular level of gamete is possible to have genetic effect in the descendants, and may cause a corresponding clinical feature, present the abnormal sex differentiation, in varying degrees, and influence the abnormal phenotype or the health of individuals.

Abortion, Habitual↗
PubMed1995

Repeated intracerebroventricular administration of taurine lowers LH levels and postpones vaginal opening in peripubertal female rats.

UNLABELLED: We investigated the effect of repeated intracerebroventricular injections of taurine (Tau, 0.15 mumol/3 microliters distilled water), administered during postnatal days 23-29, on serum LH levels, and on the hypothalamic content of LHRH and amino acid neurotransmitters (measured by HPLC and electrochemical detection) in 30-day-old female rats (n = 18). Treatment with Tau lowered serum LH (Tau: 0.20 +/- 0.04; CONTROLS: 1.04 +/- 0.21 ng/ml RP3; mean +/- S.E.M.; P < 0.05) as well as hypothalamic LHRH levels (Tau: 82.6 +/- 9.5; controls: 128.7 +/- 14.1 pg/mg wet tissue, P < 0.05). Tau treatment doubled hypothalamic GABA levels (Tau: 31.3 +/- 2.9; CONTROLS: 15.6 +/- 1.2 nmoles/mg wet tissue, P < 0.001). In a second group of animals (n = 13), Tau treatment delayed vaginal opening by more than 2 days (P < 0.05 vs. controls). It is concluded that supplementation with Tau during the fourth postnatal week reduces LHRH/LH secretion and postpones sexual development, perhaps by increasing the activity of the hypothalamic GABAergic system.

Amino Acids↗
PubMed2000

Identification of phthalate esters in the serum of young Puerto Rican girls with premature breast development.

Premature breast development (thelarche) is the growth of mammary tissue in girls younger than 8 years of age without other manifestations of puberty. Puerto Rico has the highest known incidence of premature thelarche ever reported. In the last two decades since this serious public health anomaly has been observed, no explanation for this phenomenon has been found. Some organic pollutants, including pesticides and some plasticizers, can disrupt normal sexual development in wildlife, and many of these have been widely used in Puerto Rico. This investigation was designed to identify pollutants in the serum of Puerto Rican girls with premature thelarche. A method for blood serum analysis was optimized and validated using pesticides and phthalate esters as model compounds of endocrine-disrupting chemicals. Recovery was > 80% for all compounds. We performed final detection by gas chromatography/mass spectrometry. We analyzed 41 serum samples from thelarche patients and 35 control samples. No pesticides or their metabolite residues were detected in the serum of the study or control subjects. Significantly high levels of phthalates [dimethyl, diethyl, dibutyl, and di-(2-ethylhexyl)] and its major metabolite mono-(2-ethylhexyl) phthalate were identified in 28 (68%) samples from thelarche patients. Of the control samples analyzed, only one showed significant levels of di-isooctyl phthalate. The phthalates that we identified have been classified as endocrine disruptors. This study suggests a possible association between plasticizers with known estrogenic and antiandrogenic activity and the cause of premature breast development in a human female population.

Breast↗
PubMed1981

Acceleration and delay of sexual maturation in female house mice previously selected for early and late first vaginal oestrus.

Female mice previously selected for early and late sexual maturation were tested to determine whether they retained flexibility in age of puberty in response to pheromonal and social cues. First vaginal oestrus in fst-maturing females could be delayed but not accelerated by social cues. Conversely, puberty in slow-maturing females could be accelerated in their sexual development, but not delayed. Two additional experiments demonstrated that mice from the fast- and slow-maturing lines retained the capacity to accelerate and delay puberty via pheromonal and social cues.

Age Factors↗
PubMed2005

Gene expression profiling reveals novel regulation by bisphenol-A in estrogen receptor-alpha-positive human cells.

Bisphenol-A (BPA) shows proliferative actions in uterus and mammary glands and may influence the development of male and female reproductive tracts in utero or during early postnatal life. Because of its ability to function as an estrogen receptor (ER) agonist, BPA has the potential to disrupt normal endocrine signaling through regulation of ER target genes. Some genes are regulated by both estradiol (E2) and BPA, but those exclusive to either agent have not been described. Using a yeast strain incorporating a vitellogenin A2 ERE-LacZ reporter gene into the genome, we found that BPA induced expression of the reporter in colonies transformed with the ERalpha expression plasmid, illustrating BPA-mediated regulation within a chromatin context. Additionally, a reporter gene transiently transfected into the endometrial cancer (Ishikawa) cell line also showed BPA activity, although at 100-fold less potency than E2. To compare global gene expression in response to BPA and E2, we used a variant of the MCF-7 breast cancer cell line stably expressing HA-tagged ERalpha. Cultures were treated for 3h with an ethanol vehicle, E2 (10(-8)M), or BPA (10(-6)M), followed by isolation of RNA and microarray analysis with the human U95A probe array (Affymetrix, Santa Clara, CA, USA). More than 300 genes were changed 2-fold or more by either or both agents, with roughly half being up-regulated and half down-regulated. A number of growth- and development-related genes, such as HOXC1 and C6, Wnt5A, Frizzled, TGFbeta-2, and STAT inhibitor 2, were found to be affected exclusively by BPA. We used quantitative real-time PCR to verify regulation of the HOXC6 gene, which showed decreased expression of approximately 2.5-fold by BPA. These results reveal novel effects by BPA and E2, raising interesting possibilities regarding the role of endocrine disruptors in sexual development.

Benzhydryl Compounds↗
PubMed2004

Functional dissection of the gamma-tubulin complex by suppressor analysis of gtb1 and alp4 mutations in Schizosaccharomyces pombe.

In fission yeast, gamma-tubulin (encoded by the gtb1+ gene), Alp4 (Spc97/GCP2), and Alp6 (Spc98/GCP3) are essential components of the gamma-tubulin complex. We isolated gtb1 mutants as allele-specific suppressors of temperature-sensitive alp4 mutations. Mutation sites in gtb1 mutants and in several alp4 alleles were determined. The majority of substituted amino acids were mapped to a small area on the predicted surface of the gamma-tubulin molecule that might directly interact with the Alp4 protein. The cold sensitivity of gamma-tubulin mutants was almost completely suppressed by an alpha-tubulin mutation and partially suppressed by a low concentration of thiabendazole, a microtubule assembly inhibitor. Other gtb1 mutants had increased resistance to this drug. Gel-filtration and immunoprecipitation analyses suggested that the mutant gamma-tubulin formed an altered gamma-tubulin complex with increased stability compared to wild-type gamma-tubulin. In most gtb1 mutants, sexual development was impaired, and aberrant asci that contained an irregular spore shape and number were produced. In contrast, spore formation was not appreciably damaged in some alp4 and alp6 mutants, even at temperatures where vegetative proliferation was substantially defective. These results suggested that the function of the gamma-tubulin complex or the requirement of each component of the complex is differentially regulated between the vegetative and sexual phases of the life cycle in fission yeast. In addition, genetic data indicated intimate functional connections of gamma-tubulin with several kinesin-like proteins.

Chromatography, Gel↗
PubMed2004

[Exploratory study on related factors of sexual dysfunction among breast cancer patients].

OBJECTIVE: To investigate the factors related to sexual dysfunction among breast cancer patients so as to improve the prevention and treatment of the disorder as well as the life quality of the patients. METHODS: Sixty-five breast cancer patients during the rehabilitation period were interviewed by questionnaire on the sexual function before and after treatment. RESULTS: Age and perception of sex were two important factors for the significant difference in the rate of sexual dysfunction among the patients. In the groups of 45-55 and 56-65 years, the rates of sexual dysfunction were 66.7% and 73.9%, respectively. Compared with the < 45-year group (33.3%), the findings were statistically significant (P < 0.01), and the difference was statistically significant between the incorrect perception group (70.3%) and the correct one (47.6%) (P < 0.05). Of all the factors analyzed in the research, the stage of cancer, treatment methods, vaginal dryness, decreased libido, dyspareunia and sex perception had significant correlation with newly developed sexual dysfunction (P < 0.05). CONCLUSION: The stage of cancer, treatment methods, sex perception, vaginal dryness et al had significant correlation with sexual dysfunction of breast cancer patients after treatment. To treat and prevent sexual dysfunction among breast cancer patients, oncology professionals should initiate communication about sexual difficulties, perform comprehensive assessments, and educate and counsel patients about the management of these difficulties.

Adult↗
PubMed2005

Evaluation of a two-generation reproduction toxicity study adding endpoints to detect endocrine disrupting activity using lindane.

A two-generation reproduction toxicity study in rats adding extra endpoints to detect endocrine disrupting activity was conducted using lindane by dietary administration at 0, 10, 60, and 300 ppm, for investigation of its utility. The extra endpoints included anogenital distance (AGD), nipple development, sexual maturation (vaginal opening and preputial separation), estrous cycle, spermatogenesis, sex organ weights, and blood hormone concentrations (thyroid and sex hormones). F1 offspring were examined for emotionality (open field test), motor coordination (rotarod test), as well as learning and memory (pole-climbing test). Hepatic drug-metabolizing enzyme activities were also measured. The results revealed general toxicological effects on parental animals, influence on reproductive function, and altered development of offspring; however, they did not demonstrate any distinct changes in the extra endpoints for detection of endocrine disrupting activity. Adult toxicity was observed in both F0 and F1 animals, including suppressed body weight gain and reduced food consumption in both sexes, and deaths of females at 300 ppm. Convulsions and irritability were observed during the perinatal period in pregnant F1 females given 300 ppm. Pathological examination revealed increased liver weights and centrilobular hepatocellular hypertrophy in both sexes and generations at 10 or 60 ppm and above; in addition, increased kidney weights and increased hyaline droplets in the proximal tubule epithelium, and basophilic renal tubules in males were noted at 10 ppm and above. Pituitary weights were decreased in F0 females and in F1 males and females and adrenal weights were increased in F1 males and females at 300 ppm; however, no histological changes were observed, and manifestations suggesting endocrine disrupting activity related to these changes were lacking. Hypertrophy of the thyroid follicular epithelium in F0 females at 300 ppm and in F1 males at 60 and 300 ppm, and decreases in T3 and/or T4 in both sexes and generations at 300 ppm were presumed to be secondary changes associated with the induction of hepatic drug-metabolizing enzymes. Blood hormone analysis revealed no changes in sex hormones attributable to lindane in males or females. Hepatic drug-metabolizing enzyme activities were increased dose-dependently from 10 ppm in both sexes and generations, with the rise in BROD activity being the most prominent. There were also increases in MROD, EROD, T-6beta-OH, and T4-UDP-GT activities (BROD >> EROD > MROD, T-6beta-OH, T4-UDP-GT). This suggests that while lindane most strongly induces CYP2B, it also upregulates a number of other drug metabolizing enzymes, such as CYP1A, CYP3A, and UDP-GT. As for effects on reproductive function, lack of maternal behavior, including lactation and retrieval behavior, and consequent total litter loss were observed in F1 dams at 300 ppm. There were no effects of lindane on the estrous cycle, spermatogenesis, mating, fertility, pregnancy, or parturition. Neonatal toxicity was observed in both sexes and generations, including suppressed body weight gain at 60 and 300 ppm, and decreased thymus and spleen weights without histological change at 300 ppm. The postnatal survival rate in F2 offspring was decreased due to lack of maternal behavior in dams at 300 ppm.

Administration, Oral↗
PubMed2003

The KiSS-1 receptor GPR54 is essential for the development of the murine reproductive system.

GPR54 is a G-protein-coupled receptor that displays a high percentage of identity in the transmembrane domains with the galanin receptors. The ligand for GPR54 has been identified as a peptide derived from the KiSS-1 gene. KiSS-1 has been shown to have anti-metastatic effects, suggesting that KiSS-1 or its receptor represents a potential therapeutic target. To further our understanding of the physiological function of this receptor, we have generated a mutant mouse line with a targeted disruption of the GPR54 receptor (GPR54 -/-). The analysis of the GPR54 mutant mice revealed developmental abnormalities of both male and female genitalia and histopathological changes in tissues which normally contain sexually dimorphic features. These data suggest a role for GPR54/KiSS-1 in normal sexual development, and indicate that study of the GPR54 mutant mice may provide valuable insights into human reproductive syndromes.

Animals↗
PubMed1983

Children's perceptions of sex differences in babies and adolescents: a cross-national study.

A sample of 838 children aged 5-15 in Australia, England, North America, and Sweden were interviewed about physical and sexual development. One section covered how children perceived sex differences. Criteria used for scoring were based on a biological realism scale. In identifying sex differences of newborn babies, a progression from realistic to unrealistic recognition was observed with increasing age in all countries. The Swedish younger age groups were more realistic than their English-speaking peers, with the latter catching up in the teenage years. In discerning pubertal sex differences, children tended to move from presexual ideas between 9 and 11 years and to have achieved full sexual answers between 13 and 15 years. Evidence did not support the latency period theory or the presence of castration fantasies in children. Cross-national differences are discussed and their implications explored.

Adolescent↗
PubMed1991

Male and female patterns in the discovery of sexuality during adolescence.

The present paper attempts to analyse the various factors which influence adolescents strategies in their efforts to cope with the problems related to pubertal and sexual development: the physiological changes, the social pressures engendered by family and cultural environment, and the personal meanings young boys and girls attribute thereto. The data came from 603 questionnaires and 60 interviews performed on Italian adolescents (both males and females, students and non-students) on the following issues: the awareness of physical maturation in the same and opposite sex; the significance of heterosexual relationships; the motivation for early sexual experiences; and their effects on personal identity. Significant differences concerning sex and level of schooling emerged with regard to the elaboration of the subject's psychosexual identity, motivation in the choice of partner and the precocity in the onset of sex life.

Adolescent↗
PubMed2003

Clinical and molecular analysis of human reproductive disorders in Brazilian patients.

Several genes that influence the development and function of the hypothalamic-pituitary-gonadal-axis (HPG) have been identified. These genes encode an array of transcription factors, matrix proteins, hormones, receptors, and enzymes that are expressed at multiple levels of the HPG. We report the experience of a single Endocrinology Unit in the identification and characterization of naturally occurring mutations in families affected by HPG disorders, including forms of precocious puberty, hypogonadism and abnormal sexual development due to impaired gonadotropin function. Eight distinct genes implicated in HPG function were studied: KAL, SF1, DAX1, GnRH, GnRHR, FSHbeta, FSHR, and LHR. Most mutations identified in our cohort are described for the first time in literature. New mutations in SF1, DAX1 and GnRHR genes were identified in three Brazilian patients with hypogonadism. Eight boys with luteinizing hormone- (LH) independent precocious puberty due to testotoxicosis were studied, and all have their LH receptor (LHR) defects elucidated. Among the identified LHR molecular defects, three were new activating mutations. In addition, these mutations were frequently associated with new clinical and hormonal aspects, contributing significantly to the knowledge of the molecular basis of reproductive disorders. In conclusion, the naturally occurring genetic mutations described in the Brazilian families studied provide important insights into the regulation of the HPG.

Genetic Markers↗
PubMedDate not supplied

Testosterone deficiency in women: etiologies, diagnosis, and emerging treatments.

Healthy young women produce approximately 300 microg of testosterone per day, of which about half is derived from the ovaries and half from the adrenal glands. In women, as in men, testosterone is thought to influence pubertal development, sexual function, bone density, muscle mass, erythropoiesis, energy, cognitive function and mood. Testosterone deficiency in women may result from a variety of conditions, including oophorectomy, adrenalectomy, adrenal disease, pituitary disease, HIV infection, premature ovarian failure, Turner's syndrome, and the use of high-dose corticosteroids and some estrogen preparations. Simple aging and natural menopause may also contribute to testosterone deficiency in some women. A consensus view of the diagnosis of female androgen deficiency syndrome (FADS) is currently being developed, and is summarized in this article, as are current approaches for treating testosterone deficiency in women. Recent clinical trials involving an experimental testosterone transdermal patch for women are highlighted. The impact of conventional ERT/HRT on testosterone levels in naturally menopausal women is discussed, with the differences between oral and transdermal routes of estrogen delivery being emphasized.

Administration, Cutaneous↗
PubMed1990

Expression of alpha and beta tubulin genes during the asexual and sexual blood stages of Plasmodium falciparum.

Malaria parasites switch to sexual development after a period of vegetative growth in the host's erythrocytes. This switch, vital for parasite transmission to mosquitoes, is little understood at the genetic level. Likely candidates for developmental control are the alpha- and beta-tubulin subunits required for microtubule assembly. We report here that the transcription of the alpha- and beta-tubulin genes in Plasmodium falciparum show a radically different pattern of transcription in the sexual and sexual phases of parasite growth. Our studies lead to the conclusion that three transcripts of the beta-tubulin gene differ by sequences in their 5'- or 3'-untranslated regions.

Animals↗
PubMed1984

Autoregulatory functioning of a Drosophila gene product that establish es and maintains the sexually determined state.

Sxl appears to head a regulatory gene hierarchy that controls Drosophila sexual dimorphism in response to the X chromosome/autosome balance. Only XXAA cells normally have Sxl(+) activity. It maintains both the female morphogenetic sequence and a level of X-linked dosage-compensated gene expression compatible with diplo-X cell survival. In the absence of this activity, male sexual development and dosage-compensated gene hyperactivation ensure. Loss-of-function Sxl mutations generally have female-specific lethal effects caused by upsets in dosage compensation. New female-viable Sxl mutant alleles and combinations which lack Sxl's female sex determination function, yet still provide sufficient dosage compensation function for diplo-X survival, are described here. Consequently, such mutants cause genotypic females to develop as phenotypic males. Some of these sex-transforming Sxl mutants do not require the maternally produced da(+) activity that is normally essential for the functioning of zygotic Sxl alleles. In this paper, products of these unusual alleles are shown to act in trans to induce the expression of zygotic Sxl(+) alleles that would otherwise be unable to function due to a lack of maternal da(+) activity. This result indicates a third function for Sxl(+) product: a positive autoregulatory role. Controls for the autoregulation experiments demonstrated the sex-trans-forming epigenetic effect of the da mutation for the first time in diploids. In these experiments the female-specific zygotic lethal effects that normally would have accompanied loss of maternal da(+) activity were suppressed by mutations known to block dosage-compensation gene hyperactivation-the autosomal, male-specific lethals. Three types of abnormal sexual phenotypes were produced in the experiments described here, each with important implications for the mechanism of sex determination: (1) a true intersex phenotype produced by one particular Sxl allele shows that Sxl(+) must be involved in the cellular response to the X/A balance rather than in its establishment; (2) a maternally induced, female-sterile phenotype indicates that either the process of autoregulation or the mutants used to demonstrate it are tissue specific and (3) a mosaic intersexual phenotype whose character implies that the Sxl(+ ) activity level is set early in development, both by the da( +)-mediated X/A balance signal and by autoregulation, and is maintained subsequently in a cell autonomous fashion, independent of the initiating X/A balance signal. Thus, this study supports the view that sex determination is truly determinative in the standard developmental sense, and that Sxl is the carrier of the sexually determined state.

Animals↗
PubMed1988

Testosterone treatment in adolescent boys with constitutional delay in growth and development.

The administration of androgens to adolescent boys with constitutional delay in growth has been highly controversial because of the possibility of premature epiphyseal closure and reduced final height. We have treated 15 such boys with a mean (+/- SD) age of 14.1 +/- 1.0 years and a mean initial height of 142.2 +/- 8.6 cm (range, 127.1 to 156.2). The boys received monthly intramuscular injections of testosterone enanthate (50 mg) for 1.2 +/- 0.3 years. The mean height velocity rose from the 3rd percentile for mean skeletal age to above the 90th percentile, where it remained throughout treatment. Although skeletal maturation accelerated initially in the seven boys with a skeletal age under the pretreatment group mean of 11.3 years, it advanced normally in the others. The concomitant increase in stature was sufficient to offset the advancement in skeletal age in most boys, so that the mean predicted adult height was essentially unaffected. Sexual maturation also progressed; testicular volume increased from 5.9 +/- 2.7 to 11.3 +/- 2.7 ml. After treatment, the skeletal age advanced normally and sexual development continued. Eight of the boys are now 18.1 +/- 0.5 years of age and have stopped growing; their present mean height (167.6 +/- 4.7 cm) is very close to their pretreatment predicted height of 168.0 +/- 5.6 cm. We conclude that low-dose testosterone treatment is effective in adolescent boys with delayed growth and development and that it does not appear to compromise final adult height.

Adolescent↗