Abnormal Gonads Research Articles

The formation of improved tetraploid population of red crucian carp × common carp hybrids by androgenesis

Bisexual fertile diploid androgenetic individuals (A(0)) (2n=100) were formed by androgenesis. In this way, the diploid spermatozoa from male allotetraploid hybrids (AT) (4n=200) of red crucian carp (Carassius auratus red var.) (female) x common carp (Cyprinus carpio L.) (male) were used to fertilize the UV-treated haploid eggs of goldfish (Carassius auratus), and living androgenetic diploid fish were developed. The A(0) became sexually mature at the age of 2 years, and they fertilized with each other to form their offspring (A(1)). In this study, we observed the chromosomal number, gonadal structure and appearance of A(1) fish. The results are as follows: (1) In A(1), there were 85% tetraploids (A(1)-4n), 10% triploids (A(1)-3n) and 5% diploids (A(1)-2n), suggesting that diploid A(0) could produce diploid gametes. It was concluded that the formation of diploid gametes generated from diploid A(0) was probably related to the mechanism of pre-meiotic endoreduplication. (2) Among A(1), only A(1)-4n possessed normal ovaries and testes. The mature males of A1-4n produced white semen. Under the electron microscope, the head of diploid sperm generated by A(1)-4n was bigger than that of haploid sperm generated by red crucian carp. In the testes of the A(1)-4n, there were many mature normal spermatozoa with a head bearing plasma membrane and a tail having the typical structure of "9+2" microtubules. Between the head and the tail, there were some mitochondria. The ovaries of A(1)-4n developed well and mainly contained II, III and IV-stage oocytes. The IV-stage oocytes were surrounded by inner and outer follicular cells. The micropyle was observed on the oolemma of follicular cells. There were abundant yolks and plenty of endoplasmic reticulum in the cytoplasm of IV-stage oocytes. Because A(1)-2n and A(1)-3n were distant crossing diploid hybrids and triploid hybrids respectively, they possessed abnormal gonads, and no mature semen and eggs were observed. (3) Compared with allotetraploids, the A(1)-4n fish not only had advantages such as fast growth rate and strong resistibility but also showed some new good performances such as high ratio of body width to body length, smaller heads and shorter tails. These results indicated that androgenesis could produce bisexual fertile tetraploids and improve the shape of allotetraploid hybrids as well, which will be of great significance in both the cell genetics research and fish breeding.

Intersex genetic anomalies with malignant potential

Mutations in genes contributing to sexual determination and differentiation can cause clinical syndromes with potential for the development of malignant tumors. This article focuses on intersex disorders requiring surveillance for and/or operation to prevent or treat malignancies. Classification of intersex disorders into risk groups gives guidance to physicians about children who are vulnerable to malignant degeneration of the gonads or kidneys. The gonads most at risk are both dysgenetic and intra-abdominal, and early gonadectomies are recommended as malignancies have been reported in infancy. Predominant risk groups include syndromes of gonadal dysgenesis and Ullrich-Turner syndrome. Partial gonadectomy is feasible in true hermaphrodites commensurate with sex of rearing. Histologically normal intra-abdominal gonads may be left through puberty (androgen insensitivity syndromes). A palpably normal descended gonad in a child with a Y chromosome can be observed if the child is reared as male. Certain intersex syndromes with splice variants of the WT1 gene are susceptible to Wilms' tumors (Frasier and Denys-Drash syndromes). Prevention or early recognition of malignancy in intersex disorders requires knowledge of the risk factors including dysgenetic gonads, a Y chromosome with intra-abdominal gonads and dysgenetic syndromes with WT1 gene splice variants. This paper describes the evolution toward laparoscopic gonadectomy in intersex patients, as a means to remove abnormal gonads and associated ductal structures as dictated by the disease or syndrome.

Hypomelanosis of Ito Associated With Precocious Puberty

Hypomelanosis of Ito has been associated with precocious puberty in two cases. This study reports a third case involving a female with hypomelanosis of Ito including severe mental retardation and seizure disorder with autonomic symptoms (gastroesophageal reflux and asthma). At age 5 she developed vaginal discharge, thelarche, and adrenarche. Soon after, she died of pneumonia stemming from her neurologic deficits. A postmortem examination revealed normal gonads and endocrine organs. The breasts and vulva were prematurely developed. Central nervous system findings included megalencephaly, neuronal eosinophilic inclusions, leptomeningeal neuroglial heterotopias, and cortical dysplasia. Both previously reported cases of hypomelanosis of Ito associated with precocious puberty had abnormal gonads and responded to cyproterone acetate therapy, indicating a peripheral mechanism of precocious puberty (gonadotrophin-independent). The current case, which was autopsied, lacks significant gonadal pathology, and has extensive neurologic involvement that suggests that a central mechanism of precocious puberty (gonadotrophin-dependent) can also be associated with hypomelanosis of Ito.

Molecular evidence of new variant Brucella in North Pacific common minke whales

Brucella, a causative agent of brucellosis, has been isolated recently from a variety of marine mammals. The molecular analysis of marine mammalian Brucella strains, without manifest pathology of brucellosis in the eastern North Atlantic, showed that they are distinct from terrestrial Brucella species. Previously, we reported abnormal gonads in common minke whales (Balaenoptera acutorostrata) in the western North Pacific and suggested the presence of Brucella infection in the whales in pathology and serology studies. In the present study, using polymerase chain reaction (PCR), Brucella was detected in granular testes of the whales showing caseation or calcification. The insertion of an IS 711 transposable element specific for marine mammal isolates as well as a seal isolate-specific DNA fragment were also found. Molecular characterization of Brucella based on sequence analysis of the PCR products amplified from the outer membrane protein (omp) 2 gene showed that the Brucella from North Pacific common minke whales was different from terrestrial and North Atlantic marine mammal Brucella strains. The North Pacific Brucella showed the highest similarity to North Atlantic seal strains among the known Brucella strains.

Lin-35/Rb and xnp-1/ATR-X function redundantly to control somatic gonad development in C. elegans

In screens for genetic modifiers of lin-35/Rb, the C. elegans retinoblastoma protein (Rb) homolog, we have identified a mutation in xnp-1. Mutations in xnp-1, including a presumed null allele, are viable and, in general, appear indistinguishable from the wild type. In contrast, xnp-1 lin-35 double mutants are typically sterile and exhibit severe defects in gonadal development. Analyses of the abnormal gonads indicate a defect in the lineages that generate cells of the sheath and spermatheca. xnp-1 encodes the C. elegans homolog of ATR-X, a human disease gene associated with severe forms of mental retardation and urogenital developmental defects. xnp-1/ATR-X is a member of the Swi2/Snf2 family of ATP-dependent DEAD/DEAH box helicases, which function in nucleosome remodeling and transcriptional regulation. Expression of an xnp-1∷GFP promoter fusion is detected throughout C. elegans development in several cell types including neurons and cells of the somatic gonad. Our findings demonstrate a new biological role for Rb family members in somatic gonad development and implicate lin-35 in the execution of multiple cell fates in C. elegans. In addition, our results suggest a possible conserved function for xnp-1/ATR-X in gonadal development across species.

Inter embryonic (homo- or hetero-sexual) transfer of primordial germ cells between chicken embryos.

Chicken primordial germ cells (PGCs) collected from thecirculating blood in embryonic vessels at stage 13-15 were inter-embryonically, homo- or hetero-sexually,transferred to the blood vessels of recipient embryosat the same stage of development. Approximately 30%of the embryos treated with hetero-sexual transfer of PGCs had abnormal gonads, showing ovotestis likeorgans. In this case, some of these reversed gonadswere considered to be dependent upon the ratio of thenumber of PGCs from donor to recipient embryos. Oneof the treated embryos possessed completely reversedorgans. Therefore, the introduction of exogenousembryonic vessels was thought to be also useful forproducing transgened gonads.

Possible effects of polychlorinated biphenyls on sex determination in rainbow trout

AbstractAqeous exposure of newly hatched rainbow trout (Oncorhynchus mykiss) larvae to Aroclor 1260 resulted in altered sex ratios and severe gonadal abnormalities in juvenile females. The proportion of females decreased from 41.9% in combined controls to 31.6 to 36.1% in groups that accumulated 2.5 μg/g Aroclor 1260 after 3‐h immersions, although this decrease was not statistically significant (p = 0.057). A total of 18.2% of the females in the treatment group that accumulated 2.1 μg/g Aroclor 1260 had abnormal gonads as compared to 2.7% in combined controls (p = 0.001). Abnormalities were characterized by inconsistent or extremely limited development of oocytes. Although further work is required to validate these results, this study suggests that environmentally realistic tissue concentrations of Aroclor 1260 may disrupt sexual development in female trout.

Ovarian Surgery in Premenarchal Girls

<h3>Background</h3> Ovarian surgery in premenarchal girls can result in future fertility problems, either from removal of normal ovarian tissue or adhesion formation. In addition, the small size of the normal premenarchal ovary may make conservation of ovarian tissue more challenging. This study was undertaken to assess the indications, procedures and pathology in premenarchal girls undergoing ovarian surgery. <h3>Methods</h3> A retrospective chart review was performed of all premenarchal girls who underwent ovarian surgery at the University of Michigan from 1980–1996. All available charts (n=52) had information extracted concerning age at time of surgery, presenting symptoms, pre- and post-operative diagnosis, procedure and pathology report. <h3>Results</h3> Of the 52 patients 50% were less than 1 year old, 31% between 1 and 8 years old, and 19% were between 8 and 12 years old. Presenting complaints in 29 patients included structural and or endocrinological abnormalities: mass on prenatal ultrasound (9), precocious puberty (5), ambiguous genitalia and other congenital anomalies (10), vaginal bleeding (1) and groin mass (5). The other 20 patients presented with abdominal complaints, including pain (13), vomiting (9), fever (6), bowel complaints (3) and urinary retention (1). The most common preoperative diagnosis was abdominal/pelvic mass (23). Others included chromosomal abnormality (9), ovarian cyst (6), hernia (5), torsion (2), appendicitis (2), malignancy (2), small bowel obstruction (1) and hematocolpos (1). The postoperative diagnosis revealed 17 torsions and 16 ovarian masses without torsion, 9 chromosomal abnormalities, 5 hernias, 4 malignancies, and 1 small bowel obstruction. Procedures include 37 salpingo-oophorectomies, 28 unilateral and 9 bilateral, 7 oophorectomies and 7 cystectomies. One patient underwent a staging procedure. Pathology reports confirmed hemorrhagic infarctions (19), abnormal gonads (8), simple cysts (7), teratomas (6), theca lutein cysts (4) fibroma (1), stromal tumor (1), mucinous cystadenoma (1), granulosa cell tumor (1), uterine neuro blastoma (1), mixed germ cell neoplasm (1), metastatic Wilms' tumor (1), and gonadoblastoma (1). In the 7 patients with a simple cyst, three underwent a cystectomy. <h3>Conclusions</h3> Torsion was the most common diagnosis in our study group and was usually not suspected. Premenarchal ovarian surgery usually includes removal of the entire ovary, however, since malignancies are rare in this population (7.7%), a cystectomy should be considered when appropriate and technically feasible.

Host Castration by Ascogaster spp. (Hymenoptera: Braconidae)

Ascogaster reticulatus Watanabe castrates its host Adoxophyes sp. (Lepidoptera: Tortricidae). No gonads, male or female, develop in larvae that were stung as 0-d-old eggs. The parasitoid's effect on host development is time dependent. Delayed exposure of Adoxophyes sp. eggs to parasitoid attack increased the incidence of pseudoparasitism and abnormal gonads, and decreased the number of successfully eclosing A. reticulatus adults. Pseudoparasitized hosts were either completely castrated or they had abnormal gonadal growth. Comparisons of host/parasitoid interactions are made between A. reticulatus and A. quadridentata and their respective hosts, Adoxophyes sp. and Cydia pomonella L. Each parasitoid's development beyond the first stadium may depend on when its respective host commits to diapause.

True hermaphrodite with bilateral ovotestes, bilateral gonadoblastomas and dysgerminomas, 46, XX/46, XY karyotype, and a successful pregnancy

The first case (to the authors' knowledge) is reported of a true hermaphrodite with bilateral ovotestes, bilateral gonadoblastomas and dysgerminomas, a 46, XX/46,XY karyotype, and a successful pregnancy. The true hermaphroditism was diagnosed during infancy. The patient was subsequently found to have a gonadoblastoma and a microscopic dysgerminoma in the gonad diagnosed as an ovotestis and excised during infancy. The successful pregnancy occurred when the patient was 29 years old. A year later a large gonadal tumor affecting the remaining gonad was excised. The gonad was found to be an ovotestis, and the tumor was a dysgerminoma arising from a gonadoblastoma. This case further emphasizes the malignant potential of the Y chromosome in patients with abnormal gonads.

Placental alkaline phosphatase in developing normal and abnormal gonads and in germ-cell tumours

The evolution of the gonads during intra-uterine development has been followed by immunohistochemical demonstration of placental-like alkaline phosphatase (PLAP) at the germ-cell level. PLAP immunopositivity was restricted to the limited period when germ cells were not surrounded by granulosa or Sertoli cells. Abnormal fetuses or neonates presenting with chromosomal anomalies frequently had disorganized gonads where germ cells retained their membrane PLAP immunopositivity. This abnormal immunopositivity is similar to that expressed by abnormal germ cells in testicular in situ carcinoma, in gonadoblastoma (case of 45,XO/46,XY mosaic) and in seminoma. The pattern of positivity for other germ-cell tumours was highly variable. We suggest that in abnormal gonads, dysgenetic or neoplastic, an early embryonic property is retained by abnormal germ cells. Its importance in the process of neoplastic induction remains to be defined.

Non-reciprocal gonadal dysgenesis in hybrids of the chironomid midge Chironomus thummi II. Gonadal-dysgenesis inducing chromosomes

Females of Chironomus thummi thummi (stock H1) were backcrossed with hybrid males of the cross Ch. thummi thummi (H1) ♀♀ x Ch. thummi piger (E) ♂♂ in order to test which of the four piger chromosomes determine the temperature sensitive non-reciprocal gonadal dysgenesis originally observed in the thummi ♀♀ x piger ♂♂ hybrids. In the backcross rudimentary gonads as well as normal gonads were found irrespective of the chromosome constitution of the individuals. The highest frequency of abnormal gonads (63%) occurred in backcross larvae which received piger chromosomes I and III. Statistical evaluation of the data showed that piger chromosome I is able to induce 44% dysgenic gonads. The gonadal-dysgenesis inducing ability of piger chromosome III is only recognizable if also piger chromosome I is present in the genome. The piger chromosomes II and IV do not have a statistically significant influence on the frequency of abnormal gonads.

Gonadal differentiation in frogs, Rana japonica and R. brevipoda, raised from UV irradiated eggs.

The gonadal differentiation of anurans, Rana japonica and R. brevipoda, was examined in animals raised from eggs which had been irradiated at the vegetal hemisphere with UV (9300 erg/mm2) at the 2-cell stage. In R. japonica about 70% of the larvae at stage I from the pressed and UV-irradiated eggs were germ cell free, but at a stage immediately after metamorphosis all animals had at least some germ cells, although their gonads often were extremely small and poorly differentiated. When male animals matured sexually, many of them had abnormal gonads. However, all of them were shown by artificial means to be capable of fertilization. In the nonpressed and irradiated group, no larvae were germ cell free and the animals immediately after metamorphosis showed nearly normal gonadal differentiation except for the presence of a few degenerate oocytes in the ovaries. The results in R. brevipoda were basically similar to those in R. japonica. In both species, sex ratios were determined at two stages, the first immediately after metamorphosis and the other when the animals matured, as based on gonad morphology and histology and on external sexually dimorphic characters as well. Sex ratios at these two stages in frogs from the pressed and irradiated eggs differed markedly in R. brevipoda. The ratio was normal at metamorphosis but high M/F ratios occurred when animals became mature. That sex reversal took place in this species as well as in R. japonica (in which sex-ratio deviation was not statistically significant) was supported by the sex ratios of the progenies of these supernumerary males.

The biology of the stoat (Mustela erminea) in the National Parks of New Zealand IV. Reproduction

Abstract The gonads of 528 female and 821 male stoats were examined. The weights of ovaries and testes in adults peaked simultaneously in October, the season of births and of post-partum oestrus. Of 73 females, 78% had even numbers of nipples, mostly 8 or 10. The mean number of embryos in 13 pregnancies was 8.8 (6–13), and embryo weights ranged from 0.005 g to 2.9 g. Of 11 pregnant females, 8 contained fewer embryos than corpora lutea, and there was evidence of transuterine migration of blastocysts in 6. All but 2 of 451 females caught in December–July inclusive carried corpora lutea of delay. Few adult and no young females were found in oestrus in September–October, though adult males were fertile from August to February (no first-year males were fertile). There was some evidence that the breeding season started later at more southerly latitudes in both males and females. The mean number of corpora lutea per female was 9.7 (n = 439), and there was a significant inverse correlation between counts for the 2 ovaries of one individual. There was generally no significant variation in fecundity of females with age, body weight, or year. Of 11 females which were considered to have lost their litters, 10 were collected in beech (Nothofagus) forests. Four females and 9 males had abnormal gonads; the most severe abnormality was an ovarian teratoma of unknown pathology.

Developmental capacities of benign and malignant neoplasms ofDrosophila.

The developmental properties of three neoplasms found in lethal mutants ofDrosophila melanogaster were studied and compared with the development of the corresponding wild-type organs. Two of these neoplasms are found in the late larval lethal mutant,lethal (2) giant larvae 4 (l(2)gl 4) and its allele,lethal (2) giant larvae (l(2)gl). The third neoplasm occurs in the hemizygous lethal male embryos of the mutantNotch 8 (Df(1)N 8).The mutantsl(2)gl 4 andl(2)gl were shown to possess defects involving imaginal primordia of ectodermal origin, such as the imaginal discs of the adult integument and the imaginal optic primordia in the larval brain. They also have enlarged lymph glands and abnormal gonads, salivary and ring glands. Thel(2)gl 4 andl(2)gl mutations transform the imaginal discs into noninvasive, lethal neoplasms and the imaginal optic primordia in the larval brain into an invasive and lethal neuroblastoma. Both neoplasms were serially subcultured in female adult hosts where they grew rapidly and killed their hosts in 7-14 days. The neoplastic development of thel(2)gl 4 imaginal discs and brain proved autonomous at all stages that were investigated from 10 hour old embryos to mature larvae. When exposed to the hormonal conditions of metamorphosis, the neoplastic tissues,in situ as well as those that had been culturedin vivo, ceased to grow but failed to metamorphose into parts of the adult integument or brain. Furthermore, in almost all cases they failed to resume their growth in the adult fly after metamorphosis.Thel(2)gl 4 brain neuroblastoma changed after prolonged subculturein vivo so that although the cells stopped dividing temporarily at the time of metamorphosis of the host, they resumed their growth shortly thereafter and continued to divide throughout adult development and in the emerged adult. Many of thel(2)gl 4 neuroblastoma cells showed abnormal karyotypes, shapes and sizes after prolonged culturein vivo.Thel(2)gl 4 imaginal disc tissue resembles, in both structure and behavior, certain atelotypic tissue sublines which arise from wild-type imaginal discs after prolonged culturein vivo: the ultrastructure of both types of cells are similar and both cease to grow when exposed to hormonal conditions of metamorphosis. Apparently the epigenetic processes which transform wild-type imaginal discs afterin vivo subculture into atelotypic neoplasms have the same phenotypic expression as the genetic processes at work inl(2)gl 4 imaginal discs.An analysis of several other late larval and larval-pupal mutants with defective imaginal discs, such asl(2)gd andl(1)d.lg.-1 revealed that they also had defects in parts of the brain destined to form adult structures. This observation indicates that mutations that affect imaginal discs of the adult integument also affect the imaginal primordia of the adult brain.The neoplasm in the hemizygous male embryo of the embryonic lethalNotch 8 is a teratoma-like growth which is lethal and invasive; when implanted into female adult hosts it gives rise to a mass of tissue which consists of most cell types present in the larval nervous system and a number of other unidentified cell types. It too can be subculturedin vivo for many transfer generations.The relative infrequency of neoplasms in insects is analyzed and an attempt is made to explain this infrequency and the occurrence of neoplasms in specific tissues of insects at specific developmental stages. Genetic and epigenetic neoplasms ofDrosophila are compared with neoplasms of other insects and of vertebrates and it is concluded that both genetic and epigenetic neoplasms ofDrosophila share the essential features of vertebrate neoplasms.

Familial XY gonadal dysgenesis.

Gonadal dysgenesis is a condition characterized by streak gonads in subjects who present the phenotypic appearance of females. In pure gonadal dysgenesis, unlike Turner's syndrome, no associated somatic anomalies are found; the adult is of normal or above average stature and may have eunuchoidal proportions (Sohval, 1965). The term 'XY gonadal dysgenesis' refers to patients with pure gonadal dysgenesis who are chromosomal males (Federman, 1967). In contrast, the term 'dysgenetic male pseudohermaphroditism' refers to an incomplete form of maldevelopment of the embryonic testis in patients in whom varying degrees of masculinization and genital ambiguity are found either at birth or at the time of puberty (Table I). In this report we present a family in which three sibs have abnormal gonads and incomplete sexual development: two phenotypic females with pure gonadal dysgenesis and a phenotypic male with dysgenetic pseudohermaphroditism (Fig. 1 and 2: II.6; 11.7; II.8). These two entities have been reported in sibs on only one previous occasion (Barr et al., 1967).

Observations on mammary development in calves and lambs

The normal course of mammary development has been briefly described, in sheep from 2 months of foetal age to 4 months after birth; and in dairy cattle from the 3-month foetus to calves 6 months old. Observations were also made on a series of udders from ewes during their first pregnancy. A small group of beef calves and a number of freemartins of various ages were also examined.Development was found to be closely similar in the two species, and in both, sex differences were marked.Experimentally it was found that in males of either species castration at birth had little effect on mammary growth, while prolonged treatment with oestrogen gave rise to enlarged teats, dilated cisterns and ducts, and to a certain amount of secretion. Little gland tissue was formed in oestrogen-treated males, and there was no increase in the spreading of mammary tissue from the neighbourhood of the teat.Females of the two species showed a striking difference in their response to experimental treatment. In sheep, removal of the ovaries at birth had no apparent effect on mammary development up to 4 months, while treatment with oestrogen stimulated gland formation in both spayed and intact lambs and also restricted the normal spread of mammary tissue into the udder. In cattle, on the other hand, heifers spayed at birth showed almost complete cessation of mammary development, while implants of oestrogen, in addition to inducing gland formation, promoted the spreading of tissue into the udder pad of the spayed animal.Udder development of freemartins appeared to be similar to that of normal heifers from 5 months foetal age to about a month after birth, but thereafter was more like that of a spayed animal. Removal of the abnormal gonads shortly after birth had no effect, while oestrogen treatment induced development of teats, ducts and glands exactly as in a normal heifer.Comparing small numbers of calves of the two types, it was found that heifers of the beef breed in general showed slightly poorer mammary development than dairy heifers that had been treated in the same way, with more connective tissue and numerous leucocytes in the mammary zone.

The Nature of certain Ovum-like Bodies found in the Seminiferous Tubules

ABSTRACT During the systematic examination of a goat with, an abnormal reproductive system sent to this Department by Mr. T. H. Gillespie, Director-Secretary of the Scottish Zoological Park, certain peculiar ovum-like bodies were found within the seminiferous tubules of the ectopic testes.1 In order to decide as to the exact nature of these, it was necessary to extend the investigation so as to include an examination of other abnormal gonads. To Mr. M. S. Pease, of the School of Agriculture, Cambridge, we are indebted for an undescended testis from a rabbit in which he had found bodies exactly similar to those found by us in the case of the goat, and also for permission to include a description of his series in this paper. An undescended testis from the human was sent to this Department by Sir Edward Sharpey Schafer, and one from a cat by Mr. A. Cameron, of the Royal (Dick) Veterinary College. Without this material our work must have remained very incomplete, and in acknowledging our debt we wish to render our grateful thanks.