Absent spermatogenesis despite early bilateral orchidopexy in 17-ketoreductase deficiency

Dumić, Miroslav; Plavšić, Vesna; Fattorini, Ivan; Ille, Jasenka

doi:10.1203/00006450-198411000-00100

Cited by 8 publications

(9 citation statements)

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“…on the other hand, dysfunction of somatic cells in the testis could also be the cause of the defective spermatogenesis of the repro23/repro23 mouse. For example, defects in testosterone secretion from Leydig cells result in spermatogenic failure [10,26]. However, a comparable number of 3 b-HsD-positive cells in the affected testis and no difference of androgen sensitive reproductive organs including the seminal vesicles were observed in the present study, suggesting that the function of Leydig cells, or rather the steroidogenesis of these cells, is unaffected in the repro23/repro23 mouse.…”

Section: Discussionmentioning

confidence: 33%

“…Abpa, Abpb, and Abpg genes encoding androgen binding proteins are also found in this region. Although the androgen function is important for spermatogenesis [10,26], these proteins are salivary androgen binding proteins which have been reported to act in assortative mating in mice [23]. Therefore, it is unlikely that these proteins are involved in spermatogenesis.…”

Section: Discussionmentioning

confidence: 99%

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Characterization and Linkage Mapping of an ENU-Induced Mutant Mouse with Defective Spermatogenesis

et al. 2009

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repro23 is an autosomal recessive mutation of the mouse generated by the N-ethyl-N-nitrosourea (ENU)-induced mutagenesis program at The Jackson Laboratory. The repro23/repro23 homozygous mouse shows male-specific infertility caused by defective spermatogenesis. In the present study, we investigated the testicular pathology of the affected mouse and performed linkage analysis to determine the chromosomal localization of the repro23 locus. Histological examination of the affected testis showed that the seminiferous epithelium of the repro23/repro23 mice contained spermatogonia and early stage spermatocytes, but no spermatids or spermatozoa. Immunohistochemical staining for Hsc70t, a spermatid specific protein, confirmed the absence of elongating spermatids. These findings indicated interruption of the spermatogenesis during meiosis in the repro23/repro23 mouse. By linkage analysis using 137 affected mice of F 2 progeny obtained from crosses between repro23/repro23 female and JF1/Ms (+/+) male mice, the repro23 locus was mapped to 2.2-Mb region of mouse chromosome 7. Although this region contains several potential candidate genes for the repro23 mutation, no gene already identified as a cause of defective speramatogenesis was in this region. Therefore, the gene responsible for the repro23 mutation is suggested to be a novel gene which plays an essential role in mammalian spermatogenesis.

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Section: Discussionmentioning

confidence: 33%

Section: Discussionmentioning

confidence: 99%

Characterization and Linkage Mapping of an ENU-Induced Mutant Mouse with Defective Spermatogenesis

et al. 2009

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“…For patients raised male with retention of testes, spontaneous fertility is unlikely. While there is a single reported case of a patient (with a history of genital reconstruction in adolescence) having fathered a child, examination of testicular histology in these patients reveals arrested spermatogenesis which is inconsistent with reproductive capacity . Studies of gonadal tissue removed from young prepubertal patients demonstrate Leydig and Sertoli cell hyperplasia .…”

Section: Conditionsmentioning

confidence: 96%

Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development

Islam

Lane

Williams

et al. 2019

Clinical Endocrinology

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Background Discordance between gonadal type and gender identity has often led to an assumption of infertility in patients with differences in sex development (DSD). However, there is now greater recognition of fertility being an important issue for this group of patients. Currently, gonadal tissue that may have fertility potential is not being stored for individuals with DSD and, where gonadectomy forms part of management, is often discarded. The area of fertility preservation has been predominantly driven by oncofertility which is a field dedicated to preserving the fertility of patients undergoing gonadotoxic cancer treatment. The use of fertility preservation techniques could be expanded to include individuals with DSD where functioning gonads are present. Methods This is a systematic literature review evaluating original research articles and relevant reviews between 1974 and 2018 addressing DSD and fertility, in vitro maturation of sperm, and histological/ultrastructural assessment of gonadal tissue in complete and partial androgen insensitivity syndrome, 17β‐hydroxysteroid dehydrogenase type 3 and 5α‐reductase deficiency. Conclusion Successful clinical outcomes of ovarian tissue cryopreservation are paving the way for similar research being conducted using testicular tissue and sperm. There have been promising results from both animal and human studies leading to cryopreservation of testicular tissue now being offered to boys prior to cancer treatment. Although data are limited, there is evidence to suggest the presence of reproductive potential in the gonads of some individuals with DSD. Larger, more detailed studies are required, but if these continue to be encouraging, individuals with DSD should be given the same information, opportunities and access to fertility preservation as other patient groups.

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“…Patients show a female phenotype at birth, grow up as girls, and suffer significant virilization at puberty. The cryptorchid testis or testis housed in the labia majora has low spermatogenesis development, testicular mixed atrophy, Sertoli cell-only testis histology, and in all cases, Leydig cell hyperplasia [14].…”

Section: -β-Hydroxysteroid Dehydrogenase Deficitmentioning

confidence: 99%

Morphological Bases of Human Leydig Cell Dysfunction

Miguel¹,

González‐Peramato²,

Nistal³

2018

Advances in Testosterone Action

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In this chapter, we describe the histophysiology of human Leydig cells, their cytological characteristics, their differentiation processes, and the physiopathological processes occurring at various times throughout life. We first focus on the normal development of fetal Leydig cells as well as the pathologies of fetal Leydig cells that can affect numbers or hyperplasic processes (e.g., hypogonadotropic hypogonadism, cryptorchidism, congenital Leydig cell hyperplasia secondary to diabetes, and isoimmunization). Next, we explain the changes occurring at puberty with the onset and differentiation of adult Leydig cells and the pathophysiology of delayed puberty. We then describe the histophysiology of adult Leydig cells and the most frequent pathologies (e.g., hypogonadotropic hypogonadism, testicular dysgenesia, mild androgen insensitivity syndrome, 5-α-reductase defect, and Klinefelter syndrome). Finally, we discuss the morphological changes of these cells in the elderly.

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Absent spermatogenesis despite early bilateral orchidopexy in 17-ketoreductase deficiency

Cited by 8 publications

References 0 publications

Characterization and Linkage Mapping of an ENU-Induced Mutant Mouse with Defective Spermatogenesis

Characterization and Linkage Mapping of an ENU-Induced Mutant Mouse with Defective Spermatogenesis

Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development

Morphological Bases of Human Leydig Cell Dysfunction

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