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PubMed2001

Female gonadal development in XX patients with distal 9p monosomy.

OBJECTIVE: A sex determining gene(s) has been mapped to a approximately 700 kb region distal to the exons of DMRT1 on 9p. The aim of this study was to examine gonadal developmental status in XX patients hemizygous for the 9p sex determining region. DESIGN: Clinical and molecular studies were performed in an 8-year-old girl with 46,XX,del(9)(p22) (case 1) and in a 2-year-old girl with 46,XX,del(9)(p23) (case 2). METHODS: Ovarian function status was assessed by gonadotrophin-releasing hormone (GnRH) tests. Hemizygosity for the sex determining region was examined by fluorescence in situ hybridisation and microsatellite analyses for a total of 17 loci on distal 9p. RESULTS: GnRH tests indicated mild gonadotrophin hyper responses in both cases (case 1: follicle stimulating hormone 9.2-->22.7 IU/l, luteinising hormone 0.7 --> 16.6 IU/l; case 2: follicle stimulating hormone 7.6 --> 38.2 IU/l, luteinising hormone 0.6 --> 9.4 IU/l). Molecular studies showed hemizygosity for the 9p sex determining region in both cases. CONCLUSIONS: The results, in conjunction with previous reports describing sex development in XX and XY patients hemizygous for the 9p sex determining region, imply that haploinsufficiency of the 9p sex determining gene(s) primarily hinders the formation of the indifferent gonad, leading to a wide range of testicular or ovarian development.

Child↗
PubMedDate not supplied

[Genetic support for gonadal development].

The problem of the sexes appearance has concerned the mankind since the oldest times. The paper surveys the theories that appeared during the ages, from Plato to the beginning of the 20th century when the spermatozoon was differentiated from the ovule, the chromosomes were identified and their importance for determining the sex was recognized. The paper reports on the role of the HY antigen--discovered in 1955 by Eichwald and Simser--and its mode of action, corroborating the control structural gene. The differentiating disturbances of the gonads are reviewed: the disturbances in the development of the male sex, its hormonal and enzymatic bases The authors also discuss the theories trying to explain the genetic mutations that have a diminishing effect on the estrogenic synthesis or on the appearance of the resistance to estrogens, emphasizing that the estrogenic effect is essential for the embryo life. The sexual development is too complex to be due only to the sex chromosomes. Its most important stages are determined by the genes located both on the autosomal chromosomes and on the sexual ones.

Disorders of Sex Development↗
PubMed1997

Migration of primordial germ cells to the developing gonadal ridges in the tammar wallaby Macropus eugenii.

Primordial germ cells (PGCs) of the tammar wallaby Macropus eugenii have a distinctive morphology and stain positively for alkaline phosphatase. PGCs are identifiable in embryos with 12 somites, on about day 17 of the 26.5 day gestation period, when they are located in all three germ layers of the developing embryo and in the endoderm of the bilaminar and vascular (trilaminar) yolk sac membranes. PGCs are positive for alkaline phosphatase (ALP) at least between days 17 and 22 of pregnancy. In whole mounts on day 17, three groups of cells positive for ALP occur: about 40 just caudal to the neural tube, and about 20 distributed on either side of the last three somites. By day 21, there are about 150 PGCs in the newly formed gonadal ridges and 275 in the mesenteries. On days 21-22, there are PGCs in the umbilical mesoderm, the dorsal mesentery and the coelomic angles between the dorsal mesentery and the mesonephroi. On day 22, most ALP-positive PGCs are located in the dorsal mesentery, where they occur in groups. They apparently do not migrate through the hindgut endoderm, but occasional PGCs are seen in sites such as the mesonephros, the adrenals, the blood vessels of the yolk sac and in the vicinity of the dorsal aorta and dorsal nerve cord. Between day 23 and day 25, 1 day before birth, most of the 3200-4000 PGCs complete their migration to the gonadal ridges. Although there are marked differences between embryogenesis of tammars and mice, development and the pattern of migration of PGCs in this marsupial mammal are similar to that of eutherian mammals.

Animals↗
PubMed1981

Effects of maternal anti H-Y antibodies on fetal gonadal development.

C57BL/6 inbred female mice preimmunized by serial injections of isogeneic male spleen cells were mated and the effects of the circulating anti H-Y antibodies on the fetal gonads and on their fertility were studied. Female mice receiving injections of saline formed one control group and those given female spleen cells a second control group. The experiment was carried out three times and since observations were similar and reproducible the data of all three sets were pooled. There was no significant change in the birth weights of newborns, total number of conceptions or sex ratio in the study group compared to either of the controls. There was no difference in the mean live birth rate between the study group and both the controls. Although the incidence of stillbirths in the study group was higher than that in both controls the difference was not statistically significant. In the study group there were no histopathological changes in the gonads from female pups compared to ovaries from the controls. In contrast, the gonads of male pups showed mild to severe structural disorganization in the study group, but not in the female spleen cell injected group. In spite of the morphological changes in the testes, the newborn male pups had a normal anogenital distance and testicular descent suggesting that Leydig cell function was normal.

Animals↗
PubMed1987

Influence of 12 hours of sound stimuli on gonad development and plasma luteinizing hormone in Japanese quail (Coturnix coturnix japonica) exposed to 6 hours of daily light.

Two experiments were conducted to determine the effects of sound stimulation on gonadal growth in male and female Japanese quail (Coturnix coturnix japonica) maintained under a photoperiod of 6 hr light and 18 hr dark (6L:18D) from 1 to 12 weeks of age (Experiment 1) or 1 to 14 weeks of age (Experiment 2). The quail were split into three sound environments as follows: 1) 12 hr of radio music (RS) beginning 1 hr before lights off; 2) 12 hr of vocalization from a breeding colony of quail (QV) beginning 1 hr before lights off; 3) no sound stimulation (NS). In Experiment 1, birds were killed at 8, 10, and 12 weeks of age and in Experiment 2, they were killed at 8, 10, 12, and 14 weeks of age. There were no significant differences in tests weights of the three groups at 8 and 10 wk of age (Experiment 1), but those of the RS and QV groups were larger (P less than or equal to .05) than those of the NS group at 12 weeks. Tests in the NS group appeared to grow between 8 and 10 weeks, then regress. There were no differences in testis weights at 8 and 10 weeks of age in Experiment 2. At 12 weeks, testes in the RS group were larger (P less than or equal to .05) than those of the other two groups and by 14 weeks testes of both sound stimulated groups were larger than the NS group and were also different from each other.(ABSTRACT TRUNCATED AT 250 WORDS)

Acoustic Stimulation↗
PubMed2001

Hsal 1 is related to kidney and gonad development and is expressed in Wilms tumor.

Townes-Brocks syndrome (TBS) is a human genetic disorder with features including urogenital, limb, anal and cardiac malformations associated with mutations of the TBS gene, Hsal 1. To begin to understand the role of the Hsal 1 protein (p140) in both normal development and disease pathogenesis, both message and protein expression were evaluated in specific tissues associated with TBS. DNA sequence information for Hsal 1 predicts that this homeotic, Drosophila homologue (Sal) encodes a zinc-finger protein consistent with a transcription factor. mRNA for Hsal 1 was highly expressed in fetal kidney and brain, with detectable production in thymus and heart. p140 was found in fetal ureteric bud, fetal and postnatal renal tubular epithelium, and renal blastema. In the 14-week fetal testis, the Hsal 1 protein was specifically expressed in the testosterone producing Leydig cells while in adult gonads Hsal 1 was also found in both Leydig and Sertoli cells, spermatogonia of the testis, and granulosa cells of the ovary. Evaluation of Wilms tumor revealed consistently high expression of the gene product in the epithelial and blastemal components. These spatial and temporal patterns of expression for Hsal 1, and the phenotypic effects associated with TBS, suggest that Hsal 1 plays an important role in the development and functional maintenance of the kidney and gonads. Furthermore, the Hsal 1 gene product may play a part in the pathogenesis of specific neoplasms occurring in these organs in addition to its specific role in Townes-Brocks syndrome.

Abnormalities, Multiple↗
PubMed2007

MAGE-A1, GAGE and NY-ESO-1 cancer/testis antigen expression during human gonadal development.

BACKGROUND: Cancer/testis antigens (CTAs) are expressed in several cancers and during normal adult male germ cell differentiation. Little is known about their role in fetal development of human germ cells. METHODS: We examined expression of the CTAs MAGE-A1, GAGE and NY-ESO-1 in fetal gonads by single and double immunohistochemical staining. RESULTS: We found that GAGE was expressed in the primordial germ cells of the gonadal primordium, whereas MAGE-A1 and NY-ESO-1 were first detected in germ cells of both testis and ovary after sexual differentiation was initiated. The number of positive germ cells and the staining intensity of all three CTAs peaked during the second trimester and gradually decreased towards birth in both male and female germ cells. In oocytes, MAGE-A1 expression terminated around birth, whereas NY-ESO-1 expression persisted through the neonatal stage and GAGE expression was maintained until adulthood. The population of GAGE-expressing male and female germ cells partially overlapped the population of OCT4-positive cells, whereas MAGE-A1 and NY-ESO-1 were clearly expressed only by OCT4-negative cells. CONCLUSIONS: Our results suggest that MAGE-A1 and NY-ESO-1 are associated with highly proliferating germ cells, whereas GAGE proteins have a more general function in germ cells unrelated to any specific developmental stage. The recognition of differential cellular expression of GAGE, MAGE-A1, NY-ESO-1 and OCT4 may help define biologically distinct germ cell subpopulations.

Antigens, Neoplasm↗
PubMed2000

SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development.

SRY, SOX9, and DAX1 are key genes in human sex determination, by virtue of their associated male-to-female sex reversal phenotypes when mutated (SRY, SOX9) or over-expressed (DAX1). During human sex determination, SRY is expressed in 46,XY gonads coincident with sex cord formation, but also persists as nuclear protein within Sertoli cells at 18 weeks gestation. High-level SOX9 expression in the sex cords of the testis parallels that seen during mouse development, however in humans, SOX9 transcripts also are detected in the developing ovary. Low-level DAX1 expression predates peak SRY expression by at least 10 days, and persists in Sertoli cells throughout the entire sex determination period. In Dosage Sensitive Sex reversal, the anti-testis properties of DAX1 over-expression could act prior to the peak effects of SRY and continue during the period of SOX9 expression. These findings highlight expression differences for the SRY, SOX9, and DAX1 genes during sex determination in humans and mice. These results provide a direct framework for future investigation into the mechanisms underlying normal and abnormal human sex determination.

Animals↗
PubMed1991

High-resolution scanning electron micrographs of freeze-cracked cells in testes from normal and irradiated rats at different stages of gonadal development.

Newly developed techniques in high-resolution scanning electron microscopy (SEM) and for tissue-processing procedures have been applied to an investigation of structures of various cells in rat testes at different stages of gonadal maturation. A series of high-resolution SEM micrographs are presented which survey the surfaces of different types of testis cells during normal development, and which also illustrate ultrastructural features of some of their intracellular organelles. In addition, a series of high-resolution SEM micrographs are presented which compare the structural features of Sertoli cells in normal testes with those in germ-cell-depleted testes obtained from rats killed at varying times after having been irradiated in utero. We describe our observations on the structural properties of surfaces and intracellular organelles in Sertoli cells, Leydig cells, peritubular myoid cells, and some classes of germinal cells. We also consider the possible role of Sertoli cell apical cytoplasmic processes in lumen formation. Similarities are pointed out between the structure of germ-cell-depleted testes, resulting from irradiation in utero, and the structure of germ-cell-depleted testes in seasonal breeders during periods of involution. Finally, we discuss advantages and disadvantages of methods employed to reveal the fine structure of intracellular organelles in cells of the testis.

Animals↗