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PubMed1980

Turner phenotype in mother and daughter.

Two females are described, mother and daughter, who had the Turner phenotype and spontaneous sexual development. The mother is short and had ovulatory menstrual cycles, normal breast development, X-chromatin negative buccal smear, 45,X chromosomal pattern in her peripheral blood lymphocytes, and 45,X/46,X,r(X) mosaicism in her skin, with the majority of the cells (85%) showing X monosomy. She had a successful uncomplicated pregnancy at the age of 25 years. The daughter is short and had spontaneous sexual development, including menstruation at the age of 15 years. Her buccal smear was X-chromatin negative and karyotypes from peripheral blood lymphocytes and skin fibroblasts showed a 45,X chromosome constitution. Her menstrual cycles are irregular and, most probably, anovulatory. She has a horseshoe kidney. Six women with a 45, X chromosome complement are known to have delivered normal infants with no chromosomal abnormality. Five children with 45,X mosaicism have been born to mothers with 45,X mosaicism; all had a 46,XX cell line as well. This is the first report of a 45,X female born to a mother with mosaicism composed of 2 abnormal cell lines, 1 with X monosomy and 1 with a ring X chromosome.

Adolescent↗
PubMed1984

Effects of confinement on attainment of puberty in gilts.

The present work is a review of experiments realized in order to determine the effects of confinement conditions on attainment of puberty in gilts. Few authors have compared age at first estrus or first ovulation of gilts bred in total confinement, in open front buildings and in outdoor dirt lots. Results are not always significant but lead to conclude to a detrimental effect of confinement on attainment of puberty (5 to 17 day delay). Interactions with other factors such as genotype, season of birth, age at treatment explain the differences between results. Large variations are also observed in the response of confined gilts housed in different conditions of intensity and duration of light, temperature and social environment. However, high temperature and individual penning induce a delay in age at puberty (4 to 10 days). Although the sexual development is known to depend on hormonal control, studies regarding the influence of environmental conditions on hormonal secretions are recent, rather scarce and incomplete. Significant variations in the pineal gland activity, the plasma levels of prolactin, LH and estrogens have not yet been associated with confinement, intensity and duration of light. A disruption of the corticosteroid rythm has been observed in individual compared to group penned animals. Estrus response to gonadotropin hormones is not modified but ovarian response to estrogen is reduced by confinement. Further experiments taking into account the existence of interactions between genotype, light and temperature conditions, season of birth and social relations are required in order to investigate more precisely the influence of the different types of environment on the hormonal secretions and consequently the sexual development of gilts.

Age Factors↗
PubMed1994

Cannibalistic sexual phagocytosis in Dictyostelium discoideum is modulated by adenosine via an A2-like receptor.

A unique aspect of phagocytosis during the sexual cycle of Dictyostelium discoideum is the ability of the zygote giant cell (ZGC) to attract and engulf hundreds of amoebae of the same species. The work presented here is one of two initial attempts to understand the signal transduction pathways that are involved during this event. Our data indicate that the uptake of amoebae by the ZGCs is negatively modulated by 5'-AMP and adenosine (ADO). The hierarchical inhibition of phagocytosis by the ADO analogues, N-ethylcarboxyadiadenosine and phenyl isopropyl adenosine, argue that the phagocytosis of amoebae by ZGCs is mediated by an ADO receptor, which is similar to the purinogenic class of receptor, A2. As with the A2 receptor, stimulation of cells by ADO binding causes an up-regulation of cAMP synthesis thereby increasing the intracellular levels of cAMP. During the phagocytic phase of sexual development, 5'-AMP and ADO undergo marked and successive increases in amounts supporting their natural role in modulating phagocytosis. This negative modulation of phagocytosis by ADO is similar to that found in mammalian macrophages and may represent an evolutionary precursor to that regulatory process. Furthermore, the slowing of phagocytosis has important implications to sexual development of D. discoideum.

Adenosine↗
PubMed1976

Changes in haemoglobin and haematocrit values in children aged 6 to 13 1/2 years in Mexico City.

Levels of haemoglobin (Hb), haematocrit (Ht) and mean corpuscular haemoglobin concentration (MCHC) were determined in 523 boys and 350 girls, clinically healthy, ages 6-0 to 13-5 years, middle socio-economic class living in Mexico City. In girls no significant differences according to age were observed in Hb or MCHC; however, Ht was significantly greater at 10-5 than at 10-0 years, without subsequent modifications. In boys, Hb and Ht had a first increase between 10-5 and 11-0 years and a second rise from 12-5 years on: MCHC remained unchanged. Boys were six to twelve months behind girls in regard to Ht increase; however, Ht increased when boys and girls reached similar mean weights (34 kg), heights (138 cm) and surface areas (1-15 m2); concomitantly, they had progressed to stage 2 of sexual development. Clear sex differences began to appear at age 11-5 when boys had higher Hb and Ht values than girls. These data suggest that Hb and Ht changes in these children are not related to chronological age but can be better interpreted if compared to weight, height, surface area or stage of sexual development.

Adolescent↗
PubMed1997

Bilateral absence of the ovaries and distal fallopian tubes. A case report.

BACKGROUND: Bilateral tuboovarian absence is extremely rare and is associated with infantile sexual development, primary amenorrhea and primary infertility. CASE: A 23-year-old woman presented for evaluation of primary amenorrhea. Her examination revealed hypoplastic breasts, genitalia and uterus; ovaries could not be identified. Marked estrogen deficiency was confirmed by endocrinologic testing. The karyotype was normal female. The patient was started on combined hormone replacement therapy and subsequently developed normal menses; physical maturation progressed normally. At the age of 29 she underwent diagnostic laparoscopy for evaluation of her fertility potential, at which time the absence of both ovaries and distal fallopian tubes was confirmed. CONCLUSION: Bilateral tuboovarian absence is an extremely rare cause of primary amenorrhea and is associated with infantile sexual development and primary infertility. Its etiology includes tuboovarian torsion and congenital malformation. In this case, congenital malformation appears to have been the more likely cause.

Adult↗
PubMed1981

Development of sexual dimorphism in the embryonic gonad.

Differentiation of gonads in embryonic pigs (ages 24 to 44 days) was studied by light and electron microscopy. Incipient short cord-like structures were seen in embryos of both sexes at the age of 24 days. The cords were ultrastructurally similar. Medullary cords appeared in the testis at 26 days and in the ovary at 28 days. The cords in the ovary degenerated gradually and new cortical cords started to develop at 34 days. The formation of cords in both sexes is difficult to explain with the H-Y antigen theory, according to which the antigen should organize cords only in the male. The present results indicate that new approaches are needed for further development of the H-Y antigen theory.

Animals↗
PubMed2005

Isolation and characterization of the Aspergillus nidulans eglC gene encoding a putative beta-1,3-endoglucanase.

The Aspergillus nidulans eglC gene, which encodes a putative beta-1,3-endoglucanase, was isolated from a chromosome-specific library by using an expressed sequence tag, esd0113. The EglC open reading frame encodes a 465 amino acid polypeptide, of which the amino acid sequence showed 46% similarity to that of Saccharomyces cerevisiae beta-1,3-endoglucanase. The eglC transcript level at the early stages of asexual and sexual developments was dependent on the presence of the nsdD gene that encodes a GATA-type transcription factor, confirming that the nsdD gene is necessary for full accumulation of the eglC transcript. Deletion of the eglC gene did not affect the radial growth rate, the germination rate of conidia, and both of asexual and sexual development. However, deletion of the gene led to hyphae more resistant to a cell wall-lyzing enzyme, implying that the cell wall structure of the eglC-null mutant is altered from a wild type one. Furthermore, deletion of the fadA and sfaD genes, that encode a Galpha and a Gbeta subunits of a heterotrimeric G protein, respectively, did not affect the eglC transcript level at the early developmental stages. In contrast, deletion of the flbA gene, that codes for a regulatory protein having an RGS (regulator of G protein signaling) motif, led to decrease in the eglC transcript level. The eglC transcript level was not higher in a creA mutant than in a wild type, indicating that the eglC gene is not sensitive to carbon-catabolite repression.

Amino Acid Sequence↗
PubMed2005

[Diagnostic principles of gonadal dysgenesis in adolescents].

103 patients aged 11-20 with short stature and/or with delayed puberty were studied. Among all patients classical form of gonadal dysgenesis was diagnosed in 31 patients (karyotype 45,X- 17 patients, 45,X/46,XX- 14), "mixed" gonadal dysgenesis in one patient (karyotype 45,X/46,XY)-, "pure" gonadal dysgenesis- in 5 cases (karyotype 46,XY-in 4 , 45,X -- in one). The majority of cases (66) were diagnosed as ovarian dysgenesis with the mosaic karyotype- 46,XX/45,X. In the clinical diagnostics of ovarian dysgenesis some difficulties were aroused because of slight reduction of height and delayed sexual development, mild appearance absence or somatic anomalies. The main diagnostic criteria for the various forms of gonadal dysgenesis are detection of characteristic karyotype and hypogonadotropic hypogonadism. Characteristic phenotype is more informative in the cases of classical and "mixed" forms of gonadal dysgenesis. Early diagnosis of gonadal dysgenesis is very important for effective correction of height and sexual development. Timely begin hormonal therapy may avoid complications induced bihypoestrogenia, such are: osteoporosis, cardiovascular diseases and etc. Karyotype investigation and in the cases of revealing Y chromosome material, and therefore gonadectomy must precede the beginning of hormonal therapy.

Adolescent↗
PubMed1989

Childhood sexual histories of women with somatization disorder.

The author interviewed 60 women with somatization disorder and 31 women with primary affective disorders who were matched for race, age at interview, and level of education to obtain their childhood sexual development histories. The two groups of women reported similar sexual experiences at similar ages, except that significantly more women with somatization disorder had been molested as children.

Adolescent↗
PubMed1998

Purification and characterization of laccase II of Aspergillus nidulans.

Sexual development in Aspergillus nidulans is a morphogenetic differentiation process triggered by internal and environmental signals. As a first step in analyzing the developmental pathway at the molecular level, laccase II (EC 1.10.3.2), which is specifically expressed in early stages of fruitbodies, was isolated. The enzyme was purified to apparent homogeneity from a mutant strain (SMS1) in which the sexual cycle dominates and the number of cleistothecia is increased tenfold. Laccase II was enriched 560-fold to a specific activity of 892 U (mg protein)-1. The apparent molecular mass was determined to be 80 kDa under denaturing conditions and to be 100-120 kDa under native conditions. The internal peptide sequences gained from the protein will allow the isolation of the corresponding gene as a first step in determining the key regulators of sexual development.

Amino Acid Sequence↗
PubMed1993

Calmodulin and calmodulin-binding proteins during cell fusion in Dictyostelium discoideum: developmental regulation by calcium ions.

The calcium-dependent regulatory protein calmodulin (CaM) mediates diverse cellular functions via a large number of calmodulin-binding and -dependent proteins (CaMBPs). The use of [35S]calmodulin, labeled during its expression (VU-1-CaM) in Escherichia coli, visualized over 25 CaMBPs in Dictyostelium discoideum. Seven, with M(r)s of 155,000, 91,000, 85,000, 48,000, 46,000, 38,000, and 28,000, were present only during sexual development. In addition, intracellular calmodulin levels were low during gamete formation but rose during cell fusion in response to the presence of extracellular calcium. Thus, calmodulin appears to mediate gamete formation and fusion through two distinct mechanisms: first, via unique developmentally regulated CaMBPs, and, second, via the regulation of intracellular calmodulin levels. The identification of the CaMBP spectrin in sexually developing Dictyostelium cells suggests that this cytoskeleton/plasma membrane, crosslinking protein may function during biomembrane fusion in D. discoideum as it does in other organisms.

3',5'-Cyclic-AMP Phosphodiesterases↗
PubMed1985

[45,X/46,X,del(Yq) sex chromosome mosaicism--analysis of the phenotypic expression].

Three female patients with Turner-syndrome (sexual infantilism, short stature and somatic Turner-stigmata) have been analysed cytogenetically by means of different banding techniques. A deletion of the distal heterochromatic band Yq12 of the Y chromosome was observed in a mosaic with a 45,X-cell line, i.e. the karyotype is 45,X/46,X,del(Y)(q12). In order to get information about the phenotypic expression of the 45,X/46,X,del(Yq) mosaicism all previously published cases have been reviewed. Comparing the phenotypes of all 45,X/46,X,del(Yq) mosaic cases three different phenotype categories of sexual development can be distinguished: female individuals with sexual infantilism and Turner-stigmata, individuals with ambiguous genitals, ranging from clitoris hypertrophy of female genitals to hypospadia of males, male individuals, who are infertile (azoospermic). A comparison of the appearance of external genitals with the status of gonads of all patients revealed an unequivocal relationship between the gonad status and the resulting phenotype category. Furthermore, the role of Y-chromosomal loci determining testicular differentiation (biological function of H-Y antigen) for male development has been emphasized. The effect of the 45,X-cell line on the expression of short stature and somatic Turner-stigmata is independent of sexual development. Considering the great phenotypic variability of the 45,X/46,X,del(Yq) mosaicism it seems impossible to deduce a definitive phenotype. This problem is acute in prenatal diagnosis especially.

Adolescent↗
PubMed1994

Growth of short normal children in puberty treated for 3 years with growth hormone alone or in association with gonadotropin-releasing hormone agonist.

GH, 0.1 IU/kg/day 6 days/week, was given to 30 early pubertal short patients for 3 years. There were 16 males, aged 14.4 +/- 0.8 years, and 14 females, aged 12.2 +/- 1.2 years, at pubertal stage 2 or 3 with slow growth (4.2 +/- 1.2 cm/year) and no detected GH insufficiency or other cause for short stature. They were randomized in 2 groups: group A with GH alone, and group B with GH and a gonadotropin-releasing hormone agonist during the first 2 years. 28 of the 30 patients completed 3 years of treatment. The annual growth rate increased during the 1st year in both groups and sexes, the increase being significant (p < 0.01) in group A only. Patients of group A kept an improved growth velocity in the 2nd year, then returned to pretreatment growth rate in the 3rd year, while completing their sexual development and bone maturation. Their height, expressed as standard deviation score (SDS) for bone age, improved in the first 2 years, but decreased thereafter. Group B patients returned to pretreatment growth velocity in the 2nd year, and had no significant improvement in growth rate in the 3rd year with GH alone. Their bone maturation, slow when on the GnRH agonist, accelerated when sexual development resumed. At the end of the 3 years, height, expressed as SDS for age, improved in group A from -2.5 +/- 0.6 to -1.5 +/- 0.4 in males (p < 0.05) and from -2.8 +/- 0.5 to -2.1 +/- 0.9 in females (NS).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2006

Reproductive effects of the endocrine disruptor fenarimol on a Baltic amphipod Monoporeia affinis.

An endocrine disruptor, the fungicide fenarimol, was investigated regarding its effects on reproduction and hormone (ecdysteroid) levels in the deposit-feeding amphipod Monoporeia affinis. In addition, the influence of food shortage, both by itself and in combination with fenarimol, on reproduction was examined. Field-collected amphipods were exposed in flow-through microcosms during the period of sexual maturation and mating in four treatment series: Control with low food, fenarimol with low food, control with high food, and fenarimol with high food. Fenarimol was added at a concentration of 0.3 mg/L in two pulses/ week. Results show that fenarimol has a negative effect on fertilization rate and male mating ability. Results were supported by a tendency toward delayed male sexual development. Food shortage decreased weight in both sexes and retarded female oocyte development. Higher ecdysteroid levels were recorded in males than in females, and food shortage increased male ecdysteroid levels. No effect of fenarimol exposure on ecdysteroid levels was observed. No synergistic effects of fenarimol and food shortage could be distinguished in any variable examined. Thus, M. affinis was vulnerable to reproductive impairment by fenarimol, with effects on the next generation (i.e., a disturbed sexual development and fertilization ability). Food shortage has negative effects on M. affinis, but it does not enhance the effects of fenarimol.

Acute Disease↗
PubMed1987

The effect of photoperiod on development of sexual behavior and fertility in golden hamsters.

Male hamsters were raised on short (SD) or long (LD) photoperiods from birth, and the expression of sexual behavior at 6, 7, 10, and 14 weeks was compared. Neither mounting, intromissions, ejaculations, nor ultrasonic vocalizations differed in the two groups until 14 weeks of age, when these behaviors were performed more often by LD males. Sperm appeared in daily penile smears at an earlier age in SD than LD males, but LD males had larger flank glands and testes beginning at 6 and 7 weeks, respectively. Female siblings of the males in this study were mated around 7 weeks of age to adult males. Almost all females on both photoperiods conceived normally, and greater than 90% of the offspring delivered survived to weaning in both groups. Together, these results show that hamsters reared on SD are behaviorally and physiologically capable of reproducing for a period of time after puberty. The possibility that social influences or environmental factors other than photoperiod act on the juvenile hamster to retard reproductive development is discussed.

Animals↗
PubMed1994

Developmental expression of the genes encoding transforming growth factor alpha and its receptor in the hypothalamus of female rhesus macaques.

Studies in female rats have shown that transforming growth factor alpha (TGF alpha) stimulates release of luteinizing hormone-releasing hormone (LHRH), the neuropeptide controlling sexual maturation, and that expression of the TGF alpha gene in the hypothalamus increases during both the initiation of normal puberty and after hypothalamic lesions that induce sexual precocity. Since blockade of epidermal growth factor receptors (EGFR), which mediate TGF alpha actions, delayed the normal timing of puberty, it was postulated that TGF alpha/EGFR contributes to the neuroendocrine process that underlies the initiation of normal female puberty. The present study was undertaken to examine the hypothesis that hypothalamic expression of the TGF alpha gene and its receptor changes in relation to the stage of sexual development in nonhuman primates, and to determine whether these changes are accompanied by corresponding alterations in LHRH gene expression. DNA fragments complementary to the coding regions of the rhesus monkey TGF alpha, EGFR and LHRH genes were cloned by reverse transcription-polymerase chain reaction (RT-PCR), sequenced and used to prepare monkey-specific antisense RNA probes. A quantitative RT-PCR was developed in which the cloned sequences were utilized to prepare RNA standards for the quantitation of tissue mRNA levels. Both TGF alpha and EGFR mRNA levels in the medial basal hypothalamus and preoptic area of female monkeys were elevated during neonatal life (1 week to 6 months of age), when FSH secretion is also high, decreased during juvenile development (8-18 months of age), when secretion of both FSH and LH is low, and markedly increased during the expected time of puberty (30-36 months of age). No such changes were observed in either the cerebellum or the cerebral cortex, two brain regions irrelevant to neuroendocrine reproductive control. In contrast to the pronounced alterations in hypothalamic TGF alpha/EGFR gene expression observed during sexual development, LHRH mRNA levels did not vary significantly during this time. Hybridization histochemistry revealed the presence of both TGF alpha and EGFR mRNAs in cells scattered throughout the hypothalamus, but more predominantly in the median eminence, suprachiasmatic nuclei, optic chiasm and cells along the wall of the third ventricle. These results demonstrate that increases in TGF alpha and EGFR gene expression, specific to the neuroendocrine brain, occur during developmental phases in which gonadotropin output is also elevated--most noticeably at the time of puberty.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗
PubMed2002

Involvement of a novel gene, zyg1, in zygote formation of Dictyostelium mucoroides.

A gene, zyg1, was isolated by differential screening from Dictyostelium mucoroides-7 (Dm7) cells, as one preferentially expressed during their sexual development. The zyg1 gene encodes for a novel protein (ZYG1; deduced Mr 29.4 x 10(3)) consisting of 268 amino acids. Although the ZYG1 protein has predicted PKC phosphorylation sites, it has neither transmembrane domains nor specified signal sequences. The expression of zyg1 was initiated after 2 h of starvation and reached its maximum level at 8 h under submerged conditions. The expression pattern is quite similar to the temporal change of zygote formation during sexual development (macrocyst formation) with 1 h of precedence. The zyg1 mRNA in Dm7 cells developing on agar was retained until zygotes were formed. Zyg1-overexpressing cells derived from Dm7 cells eventually formed many loose mounds, in which giant cells were surrounded by normal-sized cells, in addition to mature macrocysts even under the conditions favouring for asexual sorocarp formation. Giant cells were found by DAPI-staining to be multinucleate, possibly because of the precocious overexpression of zyg1 mRNA. Western blottings using a specific antibody raised against the oligopeptide near the C-terminal region of ZYG1 also showed that ZYG1 was actually over-produced in the zyg1-overexpressing cells. From these results, it is evident that the zyg1 gene has an essential role in zygote formation by inducing sexual cell fusion.

Amino Acid Sequence↗
PubMed1996

Comparison of seasonal changes in reproductive parameters of adult male European fallow deer (Dama dama dama) and hybrid Mesopotamian x European fallow deer (D. d. mesopotamica x D. d. dama).

In a study, aimed at comparing seasonal reproductive development of European fallow deer (Dama dama dama) with Mesopotamian (D. d. mesopotamico) x European F1 hybrids, five adult males of each genotype, which had been raised together since birth, were maintained as a bachelor group. Morphometric (body weight, neck circumference and testis diameter), endocrine (plasma testosterone concentrations) and seminal (ejaculate volume, spermatozoa per ejaculate and spermatozoa motility) parameters were recorded at fortnightly or monthly intervals for a 15-month period, and antler status was noted daily during the general periods of casting and velvet stripping. In addition, two bucks of each genotype were blood sampled via indwelling jugular catheters every 30 min for 24-h periods on five occasions (2-3 months intervals) during the year, and plasma was analysed for concentrations of testosterone and LH. Parameter profiles of the two genotypes were compared by global and time series ante-dependence covariance analysis to investigate overall profile similarity and the seasonal nature of any observed differences. Plasma hormone profiles from high-frequency blood sampling were subjected to PULSAR analysis to determine pulse frequency and amplitude. Throughout the study hybrid males were approximately 30% heavier than European males. However, both genotypes exhibited dramatic but parallel patterns of body weight change (global P = 0.054). Neck circumference was correlated with body weight throughout (P < 0.05), with similar regression slopes between the genotypes at any sampling time (P > 0.10). Covariance adjustment to a common initial body weight was performed to eliminate the effects of large body weight differences on muscle hypertrophy and regression. While profiles of corrected neck circumference were significantly different at the global level (P < 0.01), analysis by time revealed differences occurring only during the latter period of muscular regression in spring. However, profiles of other parameters, including testis diameter, plasma testosterone concentrations, spermatozoa per ejaculate and percentage motile spermatozoa, exhibited significant displacement between genotypes (global P < 0.05) evident as 2-4 weeks advancement in the sexual development (late summer/autumn) and quiescence (spring) phases for hybrid males relative to European males. Furthermore, mean dates of antler casting and velvet stripping were significantly earlier by 2-3 weeks for hybrid males than European males (P < 0.05). High frequency blood sampling revealed markedly seasonal patterns of secretion of testosterone and LH, with hybrid males exhibiting an apparent earlier onset of high-amplitude testosterone 'surges' in February (late summer) compared to those occurring in April (autumn) for European males. When viewed collectively, the data indicate strongly that the Mesopotamian influence is evident in the earlier attainment of sexual development and fertility in late summer and autumn, and earlier onset of sexual quiescence in spring. This is in accord with anecdotal information on earlier reproductive patterns in purebred Mesopotamian fallow deer.

Animals↗